Glossary for Skin texture changes

Medical terms related to Skin texture changes or mentioned in this section include:

• ADULT syndrome: A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities.
• Ablepharon macrostomia syndrome: A rare disorder involving a number of mainly physical abnormalities.
• Accessory navicular bone: An abnormal bone that develops in the arch in the middle of the foot. Often there are no symptoms but if the bone is large it may rub against shoes and cause problems.
• Acquired hypothyroidism: Acquired hypothyroidism is a condition where the thyroid gland makes too little or no thyroid hormone. Acquired hypothyroidism can be caused by both thyroid disease (primary hypothyroidism) and hypothalamic-pituitary disease (central hypothyroidism)
• Acquired total lipodystrophy: A rare acquired disorder that involves adipose tissue abnormalities and is characterized by loss of adipose tissue through the body. The disorder is very similar to the congenital form but the liver involvement is more severe.
• Acrogeria (Gottron Type): An extremely rare, mild form of progeria.
• Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome: A rare condition characterized by the association of acromegaly, cutis verticis gyrate and corneal leukoma.
• Acromegaly: An abnormal enlargement of the limbs due to increased secretion of growth hormone after the cessation of puberty
• Actinic keratosis: Gradual thickening of outer skin layers caused by excessive exposure to sunlight. Also called senile keratosis, senile wart or solar keratosis.
• Adenoid cystic carcionoma: Adenoid cystic carcinoma of the breast is a rare neoplasm. It has a biological course of slow progression and near absence of Iymph node metastasis.
• Adrenal Cancer: A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids. Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal Cortex Diseases: Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue.
• Adrenal Cortex Neoplasms: A tumor that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids.
• Adrenal adenoma, familial: A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids . Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal gland hyperfunction: Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal gland tumor or by excessive stimulation of the gland. Pituitary hormones stimulate adrenal gland activity.
• Adrenal incidentaloma: A tumor of the adrenal gland that is discovered incidentally while performing an imaging examination for reasons other than an adrenal tumor. The tumor may be asymptomatic or can causes excessive secretion of adrenal hormones and resulting symptoms. The tumor may also be malignant or benign.
• Adrenocortical carcinoma: A condition which is characterized by malignancy which affects the adrenocortex.
• African milk bush poisoning: The African milk bush originated from African and is a shrubby plant with small flowers. The milky sap contains diterpene esters which can cause symptoms if it is eaten or if the sap comes into contact with the skin or eyes. It can cause severe skin irritation and the high toxicity of the sap can cause death if sufficient quantities are eaten.
• Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
• Aleukemic leukemia cutis: A rare form of leukemia where the skin is involved before the leukemic cells appear in the blood. It is usually an early sign of leukemia.
• Allergic skin rash:
• Allergic skin reaction:
• Alopecia-contractures-dwarfism-mental retardation: A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures.
• Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
• Amelo-onycho-hypohidrotic syndrome: A rare disorder characterized primarily by tooth and nail abnormalities and reduced sweating ability.
• Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
• Amyloidosis IX: A rare disorder where a substance called amyloid is deposited in the skin resulting in itchy, discolored bumps or nodules in the skin. No other body organs are involved.
• Angiokeratoma - mental retardation - coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
• Anorexia Nervosa: A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases.
• Aplastic anemia: A blood disorder where the bone marrow produces insufficient new blood cells.
• Arterial tortuosity syndrome: A rare disorder which affects the connective tissue that makes up blood vessels resulting in various arterial abnormalities. Connective tissue abnormalities also affect the skin and joints.
• Asteatotic dermatitis: An itchy eczema-like skin condition involving areas of superficial cracking and mild peeling of the skin. Older people who bathe excessive in hot soapy water and live in houses with a high temperature and low humidity are the most prone to this condition. Usually the limbs are affected but the trunk may also be involved.
• Athlete's foot: A condition which is characterized by a chronic superificial infection of the foot caused by a fungi
• Athyrotic hypothyroidism sequence: A rare congenital disorder characterized by a thyroid gland defect.
• Autoimmune thyroid diseases: Autoimmune diseases of the thyroid gland.
• Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
• Barakat syndrome: A rare condition characterized by deafness, kidney disease and insufficiency parathyroid hormone production.
• Basal cell carcinoma: Basal cell carcinoma is a slow-growing form of skin cancer.
• Basaran-Yilmaz syndrome: A very rare syndrome characterized by reduced body hair, thickened skin on various parts of the body and the presence of white nails at birth.
• Berardinelli-Seip congenital lipodystrophy: A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities.
• Berardinelli-Seip congenital lipodystrophy, type 1: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 1 is distinguished from type 2 by the origin of the genetic defect. Type 1 is caused by a defect on the AGPAT2 gene on chromosome 9q34.3. Type 1 seems to be less severe with some cases of type 2 resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
• Berardinelli-Seip congenital lipodystrophy, type 2: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 2 is distinguished from type 2 by the origin of the genetic defect. Type 2 is caused by a defect on the BSCL2 gene on chromosome 11q13. Type 2 seems to be more severe with some cases resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
• Blisters: Blistering of the skin.
• Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency: A rare inherited connective tissue disorder caused by a deficiency of a blood coagulation factor.
• Boeck scabies: Severe scabies caused by the infestation of huge numbers of mites (in the millions in some cases) under the skin. The scabies tend to live for up to four days as opposed to the normal one day and the condition can be quite contagious.
• Bone-Marrow failure syndromes: A disorder where the bone marrow fails to produce enough new blood cells.
• Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
• Breast cancer: A condition which is characterized by the presence of malignant tissue within breast tissue
• Breast cancer stages: 0, I, II, III, IV: Cancer stage is based on the size of the tumor, whether the cancer is invasive or non-invasive, whether lymph nodes are involved, and whether the cancer has spread beyond the breast.

  Stage 0- is used to describe non-invasive breast cancers, such as DCIS and LCIS. In stage 0, there is no evidence of cancer cells or non-cancerous abnormal cells breaking out of the part of the breast in which they started, or of getting through to or invading neighboring normal tissue.

  Stage 1- describes invasive breast cancer (cancer cells are breaking through to or invading neighboring normal tissue) in which the tumor measures up to 2 centimeters and no lymph nodes are involved.

  Stage 2- Stage 2 is divided into subcategories known as 2A and 2B.

  Stage 2A- No tumor can be found in the breast, but cancer cells are found in the axillary lymph nodes (the lymph nodes under the arm).

  Stage 2B- the tumor is larger than 2 but no larger than 5 centimeters and has spread to the axillary lymph nodes.

  Stage 3- Stage III is divided into subcategories known as IIIA, IIIB, and IIIC.

  Stage 3A- no tumor is found in the breast. Cancer is found in axillary lymph nodes that are clumped together or sticking to other structures, or cancer may have spread to lymph nodes near the breastbone.

  Stage 3B- the tumor may be any size and has spread to the chest wall and/or skin of the breast

  Stage 3C- there may be no sign of cancer in the breast or, if there is a tumor, it may be any size and may have spread to the chest wall and/or the skin of the breast, and the cancer has spread to lymph nodes above or below the collarbone.

  Stage 4- the cancer has spread to other organs of the body -- usually the lungs, liver, bone, or brain.

• Bébé Collodion syndrome: A rare birth abnormality where an infant is born covered in a tight, yellow, shiny membrane. The membrane peels off and may reform several times. As the membrane dries it can leave crack which can result in infection, dehydration or inability to control body temperature. The tight skin can also affect breathing and feeding ability or impair blood supply to limbs. In mild cases the underlying skin may be normal. 10% of cases resolve themselves within a few weeks of birth.
• CHILD syndrome ichthyosis: A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects.
• Callus: Thickening of skin on hands or feet.
• Cellulitis: inflammation of the subcutaneous fat
• Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
• Chemical allergy: A chemical allergy refers to an adverse reaction by the body's immune system to a chemical. The specific symptoms that can result can vary amongst patients depending on the type and duration of the exposure and individual response.
• Chemical poisoning - 1-Pentanethiol: 1-Pentanethiol is a chemical used mainly in pesticides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - 2-Hexanone: 2-Hexanone is a chemical used mainly in paints, solvents and coated fabrics. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Acetic Anhydride: Acetic Anhydride is a chemical used mainly in various industrial processes as well as the production of pharmaceutical products such as aspirin and acetyl salicylic acid. It is also used in the production of heroin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Acetophenone: Acetophenone is a chemical used mainly as a fragrance, food flavoring agent and as a solvent for plastics and resins. It is also found naturally in small quantities in foods such as bananas, apples and beef. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Amitrole: Amitrole is a herbicide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Anisole: Anisole is a chemical used mainly as a solvent and food additive and also in perfumes and detergents. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Boric Acid: Boric Acid is a chemical used mainly in foods (preservative, emulsifier, neutralizer), antiseptics, pesticides and contact lens cleaners. Ingestion and other exposures to the chemical can cause various symptoms. Application of boric acid directly to damaged skin can cause the chemical to be absorbed rapidly into the body and lead to death. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Carbinoxamine: Carbinoxamine is a therapeutic treatment for allergic rhinitis. It is marketed under names such as Histex, Pediatiex and Carboxine. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Chlorobenzene: Chlorobenzene is a chemical used mainly as a solvent and in the production of various other chemicals. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Cyclohexanol: Cyclohexanol is a chemical used mainly as an industrial solvent and used in the manufacture of products such as plastic, nylon, soap, varnish, paint, lacquer, degreasers, detergent and insecticides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Cyclohexanone: Cyclohexanone is a chemical used mainly as an industrial solvent, in processes involving oxidative reactions and in the manufacture of certain resins, nylons, insecticides, herbicides, paints, varnish, polishes, degreasers and pharmaceuticals. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Ethylamine: Ethylamine is a chemical used mainly in the manufacture of dyes, rayon, rocket propellant, as a fuel additive and in leather-tanning and cellulose treatment. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Ethylene Dichloride: Ethylene Dichloride is a chemical used mainly in fat solvents and as a fumigant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Hexane: Hexane is a chemical used mainly in the manufacture of products such as glue, paint, shoes and furniture. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Isopropyl Alcohol: Isopropyl Alcohol is a chemical used mainly as a rubbing alcohol and also in perfumes, paint thinners, disinfectants, cleaners and fuels. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Kerosene: Kerosene is a chemical used mainly in paints, pesticides, lighter fluid, illuminating fuel and heating. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Methyl Tert-Butyl Ether: Methyl Tert-Butyl Ether is a chemical used mainly in automotive gasoline but is also used as a solvent and chemical reagent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Methylene Chloride: Methylene Chloride is a chemical used mainly in paint removers, nail polish remover, fumigants and fire extinguishers. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - N-Methyl-2-Pyrrolidone: N-Methyl-2-Pyrrolidone is a chemical used mainly in paint strippers, wire coating processes, petroleum industry and in the microelectronics industry. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Nitromethane: Nitromethane is a chemical used mainly in racing fuel and as an industrial and cleaning solvent. It is also used in the manufacture of various products: explosives, coatings, pesticides, coatings and pharmaceuticals. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Phenmedipham: Phenmedipham is used as a herbicide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Tetrachloroethane: Tetrachloroethane is a chemical used mainly as a dry cleaning solvent but is also used as a degreaser and in paint strippers and spot removers. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Tetrachloroethylene: Tetrachloroethylene is a chemical used mainly as a fabric dry cleaner, degreaser, worming treatment for animals and in the manufacture of freons. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Tetrahydrofuran: Tetrahydrofuran is a chemical used mainly as a plastic solvent and in the processing of varnish, ink, paint and glue. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - acetic acid: Acetic acid is a chemical used for medicinal purposes such as superficial ear infections, jellyfish stings and bladder irrigation. Acetic acid is a also a component of vinegar which is used as a cooking ingredient. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical-related eczema: Chemical-related eczema is a form of eczema that results from exposure to a chemical. Eczema is a type of skin inflammation or irritation that manifests as a skin rash. The amount of skin involved may vary considerable from a single small patch to widespread large areas of the body. The eczema may result from irritation due to the chemical or from an allergic response to the chemical.
• Chickenpox - Teratogenic Agent: There is strong evidence to indicate that the development of Chickenpox during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• Chondrodysplasia punctata: An inherited skeletal abnormality where bone calcifications near joints and other disorders result in growth retardation, short limbs, cataracts and an abnormal nose shape. Also called chondrodystrophia calcificans congenital or congenital stippled epiphyses.
• Chondrodysplasia punctata with steroid sulfatase deficiency: A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The skeletal disorder involves abnormal bone calcification near the joints also results in shortened limbs.
• Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
• Chrome contact allergy: Chrome contact allergy usually refers to an allergic response to chromium salts which are found in a wide range of products such as leather, paint and cement. Sensitization usually occurs in a workplace settings.
• Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
• Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chronic vitamin A toxicity: Chronic excessive ingestion of vitamin A can cause symptoms.
• Clammy skin: Moist, cool and pale skin.
• Clayton-Smith Donnai syndrome: A very rare syndrome characterized by scaly skin and facial and finger anomalies.
• Cleft lip palate pituitary deficiency: A very rare disorder characterized by a cleft lip and palate as well as deficient pituitary gland activity which affects hormone levels. The clefts and the pituitary abnormality are considered to be midline defects.
• Cobalt allergy: Cobalt chloride allergy usually refers to an allergic response to cobalt which is found in things such as belt buckles, buttons, zips and wet cement. Symptoms usually occur when the article comes into contact with the skin and hence usually results in skin symptoms. Exposure to cobalt can also occur in an occupational setting.
• Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
• Compulsive face picking: A form of obsessive compulsive disorder where a person compulsively picks at the skin on their own face. Sufferers can feel the pain they inflict on themselves but the feelings of gratification and stress relief prevent them from stopping. The severity and extent of damage to the skin is variable. Stress and anxiety can trigger the compulsive skin picking.
• Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects: A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects.
• Congenital disorder of glycosylation type 1F: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IF is caused by a defect on chromosome 17p13.1-p12 and involves a defect on the MPDU1 gene.
• Congenital disorder of glycosylation type 1M: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Im is caused by a defect on chromosome 9q34.11 and involves a defect in the TMEM15 gene.
• Congenital ichthyosis, microcephalus, quadriplegia: A rare birth disorder characterized by scaly skin, small head and paralysis of legs and arms.
• Congenital short bowel: A rare birth defect where the bowel is abnormally short. A short bowel can impair the body's ability to absorb enough nutrients and hence result in malabsorption.
• Connective tissue disorders: Any condition affecting connective tissues.
• Connective tissue dysplasia, Spellacy type: A very rare syndrome caused by an inherited collagen disorder and characterized by skin abnormalities, skeletal and eye anomalies and joint problems.
• Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Contact dermatitis: Skin reaction to an irritant
• Corneal dystrophy - ichthyosis - microcephaly - mental retardation: A very rare syndrome characterized by vision loss, scaly skin, small head and mental retardation.
• Cracked mouth corner: Cracked skin at the corner of the mouth
• Cracked skin: Cracking skin areas
• Craniosynostosis mental retardation clefting syndrome: A rare disorder characterized by premature fusion of the skull bones (craniosynostosis), mental retardation a cleft lip and/or palate.
• Cretinism athyreotic: A rare form of congenital hypothyroidism that causes mental and physical growth retardation in infants or children. Prompt thyroid hormone therapy is essential in order to prevent progressive neurological and motor deterioration.
• Cushing syndrome, familial: A hormonal disorder caused by high levels of the cortisol hormone due to the abnormal development of the adrenal gland.
• Cushing-like symptoms: Symptoms similar to those of Cushing's disease
• Cutaneous diphtheria: Skin infection from Diphtheria
• DOC 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Daentl-Townsend-Siegel syndrome: A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull.
• Daentl-Towsend-Siegel syndrome: A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull.
• Dahlberg syndrome: A rare condition characterized by hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and short end bones in fingers and toes.
• Deal-Barratt-Dillon syndrome: A very rare syndrome characterized mainly by scaly skin, jaundice, diarrhea and Fanconi syndrome (bone marrow fails to make sufficient new blood cells).
• Dehydration: Loss and reduction in body water levels
• Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Dermatillomania: A form of obsessive compulsive disorder where a person compulsively picks at their own skin. Sufferers can feel the pain they inflict on themselves but the feelings of gratification and stress relief prevent them from stopping. The severity and extent of damage to the skin is variable. Stress and anxiety can trigger the compulsive skin picking.
• Dermato-cardio-skeletal syndrome Borrone type: A rare progressive syndrome characterized by skin, heart and skeletal abnormalities.
• Dermatocardioskeletal syndrome, Boronne type: A very rare syndrome characterized mainly by thick skin, thick gums, acne, short fingers and a heart defect.
• Dermatoleukodystrophy: A very rare progressive brain disease associated with thick wrinkled skin. Only two reported cases with both dying within three years of birth.
• Dermo-odontodysplasia: A very rare syndrome characterized mainly by tooth, skin, hair and nail abnormalities.
• Developmental delay - hypotonia extremities hypertrophy: A very rare syndrome characterized mainly by poor muscle tone, developmental delay.
• Devil's trumpet poisoning: The Devil's trumpet is a shrubby plant with purple stems and large white or yellow flowers. The fruit is covered by a spiny shell. The plant originated in china and is often used as an ornamental outdoor plant. The plant contains tropane alkaloids which can be poisonous if eaten in large quantities.
• Diabetic hypoglycemia: Low blood sugar attack from insulin or diabetes medications
• Diarrhea: Loose, soft, or watery stool.
• Diphtheria: Infectious bacterial respiratory disease
• Discoid eczema: Discoid eczema is a common form of skin inflammation and irritation characterized by its round or oval shape. The size of the lesions may vary from a few millimetres to centimetres across. The cause is unknown but minor injuries such as insect bites may be triggers. The lesions tend to occur most often on the limbs.
• Disorder of Cornification 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Disorder of Cornification 8, Curth-Macklin Type: A rare inherited skin disorder involving variable degrees of scaling, thickening and hardening of the skin which can occur anywhere on the body. Mild cases can involve on the palms and soles whereas severe cases may involve the whole body.
• Dry scaly skin:
• Dry skin: Dryness, cracking or scaling of the skin.
• Dykes-Markes-Harper syndrome: A very rare syndrome characterized mainly by dry, scaly skin, enlarged liver and spleen and a incoordination.
• Dyshidrotic dermatitis: A skin disorder (eczema) that affects the soles of the feet, the palms of the hands and the sides of the fingers. There is no known cause but contributing factors include stress, hot or cold weather, pre-existing atopic condition, metal implants, smoking, and aspirin and oral contraceptive use.
• Dystrophic epidermolysis bullosa: A rare inherited skin blistering condition which can vary in severity depending on how it is inherited. Recessively inherited are more severe than dominantly inherited cases and can cause the loss of patches of skin and scarring which can impair limb function.
• EDS V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
• EDS X: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
• EDS10: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
• EEC syndrome: A rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
• Ectodermal dysplasia: A group of rare inherited conditions which affect the ectodermal skin layer which includes the skin, hair, teeth and nails.
• Ectodermal dysplasia - arthrogryposis - diabetes mellitus: A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities.
• Ectodermal dysplasia - mental retardation - CNS malformation: A rare syndrome characterized mainly by mental retardation, central nervous system disorders and skin, hair and nail abnormalities.
• Ectodermal dysplasia - mental retardation - central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
• Ectodermal dysplasia - neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
• Ectodermal dysplasia anhidrotic: A rare inherited condition involving skin, hair, teeth and nail abnormalities. The condition is characterized by the absence of sweat and sebaceous glands, underdeveloped hair and teeth, characteristic face and other physical deformities.
• Ectodermal dysplasia mental retardation syndactyly: A rare syndrome characterized by mental retardation, webbed fingers and hair, nail and teeth abnormalities.
• Ectodermal dysplasia, hypohidrotic, autosomal dominant: A very rare inherited disorder that affects the development of skin, hair, nails, teeth and sweat glands during the fetal stage.
• Ectodermal dysplasia, hypohidrotic, autosomal recessive: A rare genetic multisystem disorder characterized by hair, teeth, nail and skin abnormalities and absence of certain sweat glands.
• Ectodermal dysplasia/ skin fragility syndrome: An extremely rare syndrome characterized by fragile skin which blisters and peels, abnormal nails and thickened skin on palms and soles. Skin blistering and peeling starts at birth.
• Ectrodactyly ectrodermal dysplasia: A rare genetic disorder characterized by missing digits and hair, teeth and nail abnormalities. The severity of the hand and foot malformations is variable.
• Eczema: Skin rash usually from allergic causes.
• Eczema vaccinatum: A rare condition where a person who has eczema and is exposed to vaccinia through vaccination. The condition can occur even if the inoculation doesn't occur directly onto eczematous skin. The virus can also be transferred to an eczema sufferer from a recently vaccinated person. Severe untreated cases can result in death.
• Eczematous rash: A rash that is a superficial inflammatory process involving primarily epidermis
• Ehlers Danlos syndrome type 4, autosomal dominant: A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4.
• Ehlers danlos syndrome: An inherited disorder of the connective tissue causing it to become weak and fragile. Connective tissue is found in skin, muscles, tendons and ligaments and hence all of these may be affected by weakness
• Ehlers-Danlos Syndrome, Dysfibronectinemic type: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
• Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
• Ehlers-Danlos syndrome caused by tenascin-X deficiency: A rare genetic disorder which is similar to Ehlers-Danlos syndrome and involves a deficiency of tenascin-X which affects connective tissue. The main symptoms are loose joints, partially dislocated joints and fragile, hyperextensible skin.
• Ehlers-Danlos syndrome type 3: A rare genetic connective tissue disorder characterized by lax joints, hyperextensible skin and mild connective tissue fragility - a mild form of the condition.
• Ehlers-Danlos syndrome type II: A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and poor wound healing - a milder form of Type 1 with hypermobility limited to hands and feet.
• Ehlers-Danlos syndrome type III: A rare genetic connective tissue disorder characterized by lax joints, hyperextensible skin and mild connective tissue fragility - a mild form of the condition.
• Ehlers-Danlos syndrome type IV: A rare genetic connective tissue disorder characterized by small joint hypermobility, easy bruising and characteristic facial appearance - a vascular or ecchymotic form of the condition.
• Ehlers-Danlos syndrome type IX: A rare genetic connective tissue disorder involving a defective copper metabolism and characterized by mildly hyperextensible skin, lax joints, bladder problems and chronic diarrhea.
• Ehlers-Danlos syndrome type V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
• Ehlers-Danlos syndrome type VI: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities.
• Ehlers-Danlos syndrome type VII: A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and joint dislocations.
• Ehlers-Danlos syndrome type VIII: A rare genetic connective tissue disorder characterized by lax joints, hyperextensible skin and mild connective tissue fragility - a mild form of the condition.
• Ehlers-Danlos syndrome type X: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
• Ehlers-Danlos syndrome with Platelet Dysfunction from Fibronectin Abnormality: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
• Ehlers-Danlos syndrome with periventricular heterotopia: The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome.
• Ehlers-Danlos syndrome, 6B: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.
• Ehlers-Danlos syndrome, arthrochalasic type: A rare genetic connective tissue disorder characterized by hyperextensible and fragile skin and hypermobile joints which leads to dislocations, osteoarthritis and fractures - previously known as EDS types 7A and 7B.
• Ehlers-Danlos syndrome, cardiac valvular form: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility.
• Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
• Ehlers-Danlos syndrome, dermatosparaxis type: A rare genetic connective tissue disorder characterized by skin hyperextensibility hypermobile joints and fragile skin which loses its elasticity - previously known as EDS type 7C.
• Ehlers-Danlos syndrome, dermatospraxis type: A rare genetic connective tissue disorder characterized by skin hyperextensibility hypermobile joints and fragile skin which loses its elasticity - previously known as EDS type 7C.
• Ehlers-Danlos syndrome, hypermobile type: A rare genetic connective tissue disorder characterized by generalized joint hypermobility and smooth hyperextensible skin as well as joint pain and discolations.
• Ehlers-Danlos syndrome, hypermobility type: A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and - previously known as EDS type 3.
• Ehlers-Danlos syndrome, kyphoscoliosis type: A rare genetic connective tissue disorder caused by deficiency of the lysyl hydroxylase enzyme and is characterized by progressive scoliosis and muscle weakness and fragile sclera - previously known as EDS type 6.
• Ehlers-Danlos syndrome, progeroid form: A connective tissue disorder caused by an enzyme (xylosylprotein 4-beta-galactosyl transferase) deficiency.
• Ehlers-Danlos syndrome, tenascin-X deficiency: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility.
• Ehlers-Danlos syndrome, type 10: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
• Ehlers-Danlos syndrome, vascular type: A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4.
• Ehlers-Danlos, syndrome, periodontitis type: A rare genetic connective tissue disorder characterized by lax joints, hyperextensible skin and mild connective tissue fragility - a mild form of the condition.
• Environmental allergen related eczema: Environmental allergen related eczema is a form of eczema that results from exposure to an environmental allergen such as moulds, pollens or dust mite. Environmental allergens are more likely to cause allergic conditions such as hay fever and asthma but can cause eczema in some cases or exacerbate pre-existing cases. Eczema is a type of skin inflammation or irritation that manifests as a skin rash. The amount of skin involved may vary considerable from a single small patch to widespread across large areas of the body.
• Eosinophilic fasciitis: A rare disorder where the skin on the limbs become painfully inflamed and looses it's elasticity.
• Epidermolysa bullosa simplex and limb girdle muscular dystrophy: A rare syndrome involving fragile skin that blisters easily as well as muscle weakness and wasting in the head and limbs. The severity of the blistering and muscle weakness is variable with some sufferers dying during infancy.
• Epidermolysis Bullosa Dystrophica, Pretibial: A rare inherited skin blistering disorder characterized by the development of blisters on the skin and mucous membranes even with minor skin trauma. The skin condition also involves itching which usually doesn't respond to conventional therapies. The blistered areas become scarred. The condition is caused by a defect in the collagen gene. The skin sensitivity may improve with age.
• Epidermolysis Bullosa Pruriginosa: A rare inherited skin blistering disorder characterized by the development of skin blistering and scarring mainly on the shins. The condition is caused by a defect in the collagen gene. The skin sensitivity may improve with age.
• Epidermolysis bullosa acquisita: An acquired autoimmune skin condition characterized by blisters which cause scarring on the skin of joints and sometimes the skull.
• Epidermolysis bullosa dystrophica, dominant type: A relatively mild form of the skin disease characterized by fragile, blistered skin.
• Epidermolysis bullosa intraepidermic: A rare inherited skin disorder characterized by separation of the layers within the skin which results in fragile, blistered skin. The blisters usually heal without scarring and the skin that is most often placed under trauma (feet and hands) is the most affected.
• Epidermolysis bullosa simplex with mottled pigmentation: A variant of a skin blistering disease which also involved a skin pigmentation anomaly.
• Epidermolysis bullosa with pyloric atresia: A rare inherited blistering skin disorder which also involves a defect where the digestive system is closed off in the pyloric area. Death generally occurs even if the defect is corrected.
• Epidermolysis bullosa, generalized atrophic benign: A rare inherited skin disorder characterized by fragile skin which blisters easily and often results in scars after healing. The condition is generally quite mild compared to other skin disorders involving fragile blistering skin.
• Epidermolysis bullosa, junctional: A rare inherited skin disease which is characterized by fragile skin which readily forms skin blisters and can result in fatal complications.
• Epidermolysis bullosa, junctional, with pyloric atrophy: A rare inherited skin disease which is characterized by fragile skin which readily forms skin blisters as well as obstruction of the passage from the stomach to the intestine (pylorus). Death usually occurs within weeks of birth.
• Epidermolysis bullosa, lethal acantholytic: A very rare inherited disorder characterized by extremely fragile skin and mucous membranes which blisters and peels. The majority of the skin blisters and peels within a week of birth. Severe fluid loss and death follows soon after.
• Epidermolytic Hyperkeratosis: A rare inherited skin disorder characterized by blistering, redness, scaling and ultimately thickening of the skin that occurs from birth. The severity of the condition is variable.
• Erythema: Skin redness caused by congestion of capillaries such as in blushing.
• Erythroderma: Condition with thickening and flaking skin
• Erythrodermic eczema: Erythrodermic eczema is a severe condition that results from worsening eczema.
• Exfoliative dermatitis: Form of dermatitis where skin flakes or falls off.
• Familial hypopituitarism: Impaired pituitary gland hormone-producing activity that tends to run in families. The failure of the pituitary gland in turn affects other hormone-producing glands which rely on the hormones from the pituitary gland for their activity. Symptoms are determined by the degree and type of hormone deficiency involved.
• Familial hypothyroidism: Impaired thyroid activity that tends to run in families.
• Fanconi-ichthyosis-dysmorphism: A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months.
• Fenton-Wilkinson-Toselano syndrome: A rare syndrome characterized mainly by ataxia, light sensitivity and short stature.
• Fibronectin-Deficient EDS: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
• Fibrosis of skin: Thickening and tightening of the skin.
• Flaky skin: A condition where a persons skin lifts loosely in flakes
• Follicular ichthyosis: A genetic skin disorder which causes the skin to become red, dry and scaly. It can occur anywhere on the body where there are hair follicles.
• Fontaine-Farriaux-Blanckaert syndrome: A rare syndrome characterized by premature fusion of skull bones as well as various other abnormalities.
• Food Additive Adverse reaction - citric acid intolerance: An intolerance to citric acid is an adverse reaction (not an immune response) by the body to citric acid or foods containing citric acid. Citric acid can be found naturally in foods but is also frequently used as an additive to various foods. The adverse reaction results from the body's inability to metabolize the food. The amount of citric acid required to trigger the onset of symptoms and the nature and severity of symptoms may vary considerably between patients.
• Forbes-Albright syndrome: A rare condition where a hormone secreting pituitary or hypothalamic tumor causes galactorrhea and amenorrhea.
• Fowler-Christmas-Chapple syndrome: A rare syndrome characterized by the association of polycystic ovaries with the abnormal functioning of the urinary valve.
• Fox-Fordyce disease: A rare disorder where sweat trapped in the sweat glands results in itching inflammation of the involved tissue
• Freire-Maia odontotrichomelic syndrome: A rare syndrome characterized by tooth, hair and limb abnormalities.
• Freire-Maia syndrome: An extremely rare syndrome characterized by tooth, hair and limb abnormalities. The abnormalities can be quite severe in some cases. The parents may have been related in the reported cases.
• Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
• Fucosidosis type II: A form of the biochemical disorder called fucosidosis where an enzyme deficiency (alpha-fucosidase) results in the accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. Symptoms start later and progress slower than in type I and is distinguished by warty skin growths.
• Functioning pancreatic endocrine tumor: Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase.
• GM1 gangliosidosis: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
• Gangliosidosis generalized GM1, type 1: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
• Garret-Tripp syndrome: A rare syndrome characterized mainly by extra digits, a lack of hair and scaly skin on the scalp, face and neck.
• Gaucher disease - perinatal lethal form: A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease.
• Geleophysic dwarfism: A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities.
• Geroderma osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplastica hereditaria: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplasticum: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Ghosal syndrome: A very rare syndrome characterized mainly by difficult to treat anemia and skeletal abnormalities.
• Granulomatous hypophysitis: A rare disorder caused by the inflammation of the pituitary gland. It can occur as a result of other infections such as tuberculosis and sarcoidosis.
• Grix-Blankenship-Peterson syndrome: A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities.
• Gronblad-Strandberg-Touraine syndrome: A group of inherited, progressive connective tissue disorders affecting the skin, eyes and cardiovascular system. The condition is characterized by calcium deposits in the connective tissue which affects its ability to function. Some cases remain undiagnosed to the mildness of symptoms.
• Growth Hormone Receptor Deficiency: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• HAIR-AN Syndrome: A very rare syndrome that affects females only and is characterized mainly by insulin resistance, dark velvety patches of skin and increased male hormone production in females.
• Hand eczema: Hand eczema is characterized by inflammation and irritation of the skin on the hands. It is usually the result of frequent hand contact with an irritating substance such as dishwashing detergent. Hand eczema tends to occur more often in patients who have a history of atopic eczema.
• Hashimoto's thyroiditis: A progressive disease of the thyroid which leads to degeneration and hypothyroidism
• Hay-Wells syndrome, recessive type: A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lower jaws.
• Herbal Agent overdose - Nutmeg: Nutmeg can be used as a herbal agent to treat delayed menstruation. The herbal agent can cause various overdose symptoms if excessive quantities are taken.
• Hereditary hypothyroidism: Hereditary hypothyroidism is a condition in which there is a defect in the thyroid gland which leads to increased production of TSH reduced production of thyroid hormone.
• Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
• Hunter-Carpenter-Macdonald syndrome: A very rare syndrome characterized by various abnormalities including small head, facial anomalies, mental retardation and hair, skin and nail anomalies. Fetal exposure to alcohol is believed to be a factor in the syndrome.
• Hutchinson Gilford Syndrome: A rare genetic disorder characterized by alopecia and senile-like appearance.
• Hyalinosis, infantile systemic: A rare genetic disorder involving abnormal deposits of hyaline throughout various body tissues. Manifestations include progressive joint contractures, skin abnormalities and pain.
• Hydroa vacciniforme: A rare skin disorder characterized the development of crusting skin eruptions following exposure to the sun.
• Hyperadrenalism: Excessive levels of adrenal hormones in the body. Symptoms depend on which hormone is involved and the degree of involvement. Adrenal hormones are aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine.
• Hyperhidrosis: The excessive perspiration from ones skin
• Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features: A very rare disorder characterized by thickened skin, mental retardation, increased body hair and a characteristic face.
• Hypoglycemia: Low blood sugar levels
• Hypopigmented lesions in children:
• Hypothyroid goitre: Goitre is the enlargement of the thyroid gland and hypothyroid state is characterized by increased TSH levels and decreased T3 and T4 levels circulating in the body.
• Hypothyroidism: The decreased activity of the thyroid gland
• Hypothyroidism - dermoid cyst - cleft palate: A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities.
• Hypothyroidism due to iodide transport defect: Low thyroid hormone levels in infants due to abnormal iodide transport in the body caused by a genetic defect. The severity of the condition varies depending on the extent of the defect and the length of time taken to diagnose the condition. Symptoms tend to become worse, the longer the condition is undiagnosed.
• I cell disease: A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).
• Ichthyosiform Erythroderma, Corneal Involvement and Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
• Ichthyosiform erythroderma, nonbullous congenital: A rare inherited skin disorder characterized by redness, scaling and ultimately thickening of the skin that occurs from birth. The severity of the condition is variable.
• Ichthyosis - alopecia - eclabion - ectropion - mental retardation: A very rare syndrome characterized mainly by scaly skin, hair loss, mental retardation and outwardly turned eyelids and lips.
• Ichthyosis - deafness - mental retardation - skeletal anomaly: A rare disorder characterized by deafness, mental retardation, scaly skin and skeletal anomalies.
• Ichthyosis - mental retardation, Devriendt type: A very rare syndrome characterized mainly by dry, rough, scaly skin and mental retardation.
• Ichthyosis Vulgaris: A skin disorder characterized by dry scaly skin which often forms in areas such as the abdomen, chest, elbows and knees. Cold weather can exacerbate the condition. The condition is usually inherited in a dominant manner but in rare cases it may be acquired.
• Ichthyosis and male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
• Ichthyosis bullosa of Siemens: A rare inherited form of the genetic skin blistering disorder called ichthyosis bullosa. The condition is characterized by widespread reddening, blistering and peeling of fragile skin that starts at birth. Symptoms tend to improve with age
• Ichthyosis congenital - biliary atresia: A very rare syndrome characterized mainly by dry, rough, scaly skin from birth and an abnormal biliary tract.
• Ichthyosis hystrix, Curth Macklin type: A rare inherited skin disorder involving variable degrees of scaling, thickening and hardening of the skin which can occur anywhere on the body.
• Ichthyosis male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
• Ichthyosis mental retardation asymptomatic spasticity: A rare syndrome characterized mainly by mental retardation, spasticity and dry scaly skin.
• Ichthyosis mental retardation dwarfism renal impairment: A rare genetic condition characterized by dwarfism, mental retardation, kidney dysfunction and ichthyosis (skin disorder characterized by fish-like scales).
• Ichthyosis microphthalmos: A rare genetic disorder characterized by dry scaly skin and small eyes.
• Ichthyosis prematurity syndrome: A very rare syndrome characterized mainly by premature birth with a thick layer of skin that peels to leave dry, scaly, thickened skin.
• Ichthyosis tapered fingers midline groove up: A very rare syndrome characterized by scaly skin and facial and finger anomalies.
• Ichthyosis vulgaris, dominant: A chronic skin condition where dry, rough skin forms in areas such as the abdomen, chest, elbows and knees. The condition usually starts between the ages of 1 and four years and is exacerbated in cold weather.
• Ichythosiform Erythroderma with Leukocyte Vacuolation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Infantile hypothyroidism: A condition in infancy or early childhood due to an in-utero deficiency of thyroid hormones that can be caused by genetic or environmental factors, such as thyroid dysgenesis or hypothyroidism in infants of mothers treated with thiouracil during pregnancy.
• Inflammatory breast cancer: Inflammatory breast cancer is a rare and aggressive form of invasive breast cancer, where the skin of the breast becomes red, inflamed and pitted in appearance.
• Invasive breast cancer: Invasive breast cancers usually are epithelial tumors of ductal or lobular origin. Features such as size, status of surgical margin, estrogen receptors (ER) and progesterone receptors (PR), nuclear and histologic grade, DNA content, S-phase fraction, vascular invasion, tumor necrosis, and quantity of intraductal component are all important in deciding on a course of treatment for any breast tumor.
• Irritant contact eczema: Irritant contact eczema is a form of eczema that occurs when an irritating substance comes into direct contact with the skin. Eczema is a type of skin inflammation or irritation that manifests as a skin rash. This form of eczema often occurs in occupational settings.
• Jimsonweed poisoning: The Jimsonweed is a herb that bears single large white or lavender flowers and seeds surrounded by a spiny shell. The plant contains tropane alkaloids (mainly the seeds and leaves) which can cause symptoms if eaten in large quantities.
• Johnston Aarons Schelley syndrome: A very rare lethal syndrome characterized mainly by contractures and thickened skin.
• Jones-Hersh-Yusk syndrome: A rare congenital disorder characterized by missing toes, cleft palate, blistered skin and absent patches of skin at birth.
• Judge-Misch-Wright syndrome: A very rare syndrome characterized mainly by thickened skin on palms and soles as well as around the mouth.
• Jung-Wolff-Back-Stahl syndrome: A very rare syndrome characterized mainly by brain abnormalities, mental retardation and facial and skull anomalies.
• Juvenile Scleroderma: Scleroderma that occurs in children. Scleroderma is a connective tissue disease that can affect the skin, blood vessels, the immune system and sometimes even the organs may be involved. The disorder may be localized or affect large areas of the body.
• Kanzaki disease: A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration.
• Kawanism: Kava can be used as a herbal agent to treat anxiety, restlessness, stress and sleeping problems due to anxiety. The herbal agent contains chemicals including alpha-pyrone which can cause various symptoms if it is taken for long periods of time.
• Keratitis Ichthyosis Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
• Keratosis: A localized thickening or overgrowth of the upper skin layer such as in a callus or wart.
• Koone-Rizzo-Elias syndrome: A rare congenital disorder characterized by mental retardation, spasticity and dry, scaly skin.
• Lamellar ichthyosis: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes.
• Lamellar ichthyosis, autosomal dominant form: A very rare dominantly inherited disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes.
• Lamellar ichthyosis, type 1: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. Type 1 is distinguished by the location of the genetic defect - chromosome 14q11.2.
• Lamellar ichthyosis, type 2: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. Type 2 is distinguished by the location of the genetic defect - chromosome 2q34.
• Lamellar ichthyosis, type 3: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal large dark, plate-like scales. Type 3 is distinguished by the location of the genetic defect - chromosome 19p12-q12. This type also affects the ears and face to a greater degree than other types.
• Lamellar ichthyosis, type 5: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. Type 5 is distinguished by the location of the genetic defect - chromosome 17p13.2-p13.1.
• Laron Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Pituitary Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Type Pituitary Dwarfism 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron-type Dwarfism Phenotypic Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Latex allergies: When a person has an allergic reaction to latex
• Lax Skin: Skin lacks elasticity and hangs in loose folds.
• Lenz Majewski hyperostotic dwarfism: A rare genetic disorder characterized by dense, thick bones and symphalangism.
• Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
• Lichen planus: Skin rash
• Lichen sclerosis: Disease causing leathery or dry skin in genital areas.
• Lichen simplex chronicus: Lichen simplex chronicus refers to thickened itchy skin that results from persistently rubbing or scratching an area of skin.
• Lipidosis with triglyceride storage disease: A very disorder involving abnormal storage of fat (triglycerides in parts of the body). The condition causes blood abnormalities as well as skin, eye and hearing problems.
• Lipoid proteinosis of Urbach and Wiethe: A rare congenital lipoid storage disease where lipids, carbohydrates and proteins are deposited onto blood vessel walls and other tissues.
• Locally advanced breast cancer:
• Loffredo-Cennamo-Cecio syndrome: A very rare syndrome characterized mainly by scaly skin and small eyes.
• Lymphatic Filariasis: Parasitic worm infection of the lympatic system
• Lymphomatous thyroiditis: Progressive thyroid gland enlargement due to autoimmune disease.
• Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance: A rare disorder characterized by osteoporosis, wrinkled skin, aged appearance and abnormal bone development.
• Male Breast Cancer: Cancer of the breast in males.
• McCune-Albright Syndrome: A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material.
• Medication related hypothyroidism: Drug-induced hypothyroidism is an underactive thyroid gland due to a reaction from medication.
• Medullary carcionoma: Medullary carcinoma of the breast is a variant of breast cancer. These tumors have a similar presentation to other breast cancers but are distinguished by a characteristic histologic appearance.
• Melanoma: Melanoma is the most dangerous type of skin cancer. It is the leading cause of death from skin disease. It involves cells called melanocytes, which produce a skin pigment called melanin. Melanin is responsible for skin and hair color.
• Menkes Disease: Genetic disease of copper deficiency.
• Mental retardation - arachnodactyly - hypotonia - telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
• Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
• Mental retardation, X-linked - seizures - psoriasis: A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder.
• Metaplastic carcinoma: Metaplastic carcinoma of the breast is a rare neoplasm containing a mixture of epithelial and mesenchymal elements.
• Metastatic breast cancer: Metastatic breast cancer is the term used to describe cancer that has spread from the original site in the breast to other organs or tissues in the body.
• Microcephalic osteodysplastic primordial dwarfism types 1 and 3: Microcephalic osteodysplastic primordial dwarfism types 1 and 3 were originally regarded as separate conditions but it was recently concluded that they were different expressions of the same condition. The main differences between the two forms is a difference in the radiological bone anomalies. The condition is characterized mainly by bone abnormalities, short stature and a small head.
• Micropapillary carcinoma: Invasive micropapillary carcinoma (IMPC) is a rare subtype of epithelial tumor of the breast. It has a high incidence of axillary lymph node metastasis, in keeping with an angioinvasive phenotype. IMPC was considered an aggressive subtype of breast carcinoma.
• Mild allergic skin rash:
• Moynahan syndrome III: A rare syndrome characterized mainly by short stature, defective tooth enamel, clubfoot, skin problems and a variety of other anomalies. Blisters tend to occur during the warmer months of the year.
• Mucha-Habermann syndrome: A rare skin disorder characterized by recurring skin lumps, blisters and bleeding under the skin.
• Muckle-Wells syndrome: An inherited condition characterized by amyloidosis (protein deposits), deafness, hives and limb pain.
• Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
• Mucopolysaccharidosis type 6: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (Arylsulfatase ?) needed to break it down.
• Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
• Mucopolysaccharidosis type I Hurler/Scheie syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down.
• Multiple endocrine abnormalities - adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
• Multiple sclerosis - ichthyosis - factor 8 deficiency: A very rare syndrome characterized mainly by multiple sclerosis, scaly skin and a blood anomaly.
• Multiple system atrophy: A rare disorder where nerve degeneration causes progressive neurological problems involving the central and autonomic nervous system. The rate of progression is variable.
• Mycetoma: A severe fungal infection of the skin, underlying tissue and bone.
• Mycosis fungoides: Mycosis fungoides is a rare form of T-cell lymphoma of the skin. The disease is typically slowly progressive and chronic.
• Mycosis fungoides, familial: A rare form of lymphatic cancer (T-cell lymphoma) that primarily affects the skin and tends to occur with higher than normal frequency within a family. The skin is affected first, then the lymph nodes become inflamed and usually cancerous. The cancer can then spread to organs such as the liver, lungs and bone marrow. Survival depends on how early treatment starts. Patients diagnosed in the early stages can survive more than 12 years whereas once the cancer has spread to other organs, death usually occurs within three years.
• Myopathy, limb-girdle, with bone fragility: A rare inherited disorder characterized by easy bone fracturing, poor healing of fractures and progressive weakness of the limb-girdle muscles. The fractures tend to occur before the muscle problems. The slow-healing fractures sometimes resulted in osteomyelitis and limb amputation.
• Myxedema: The most severe form of hypothyroidism characterized by swelling of extremities and face.
• Necrotizing fasciitis: A severe, progressive skin infection which causes progressive destruction of skin and underlying tissue. It is caused by certain bacteria and has a high mortality rate.
• Neoplastic porphyria tarda: A rare condition where a liver tumor causes a deficiency of the enzyme hepatic uroporphyrinogen decarboxylase. The deficiency causes a build up of porphyrins in the liver and the skin which causes damage to the skin and various other symptoms.
• Nephrogenic Fibrosing Dermopathy: A rare disorder characterized by thickening and hardening of the skin as well as other symptoms. The course of the disease may be mild or aggressive and occurs in patients with underlying disorders kidney disease.
• Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
• Neuritis: Inflammation of a nerve.
• Neurodermatitis: Lichen simplex chronicus refers to thickened itchy skin that results from persistently rubbing or scratching an area of skin.
• Neuroectodermal endocrine syndrome: A very rare syndrome characterized mainly by hormonal, hair, skin and brain abnormalities.
• Neuropathy, Hereditary Sensory, Type IV: A rare disorder characterized mainly by insensitivity to pain and inability to sweat.
• Nickel contact allergy: Nickel contact allergy usually refers to an allergic response to nickel which is found in most jewellery. Even high carat gold has some nickel content which may pose problems for some people. Symptoms usually only involve the skin that is in contact with the jewellery. Nickel may also be found in watch straps, belt buckles and jeans studs.
• Nicotine addiction: Nicotine addiction is the uncontrollable desire to continue smoking. Smoking products contain nicotine which is a chemical that can lead to addiction if used over a period of time. Cessation causes withdrawal symptoms which can vary in nature and severity.
• Nodular melanoma: Nodular melanoma is the most aggressive form of melanoma. It grows in vertical direction from the outset and grows very fast (months). Nodular melanoma has no known precursor. It is a small black, or if amelanotic, pink nodule that simply enlarges. The lesions tend to bleed.
• Nodular primary localized cutaneous amyloidosis: A rare skin condition caused by abnormal, localized deposits of amyloid in the skin. The skin lumps or plaques can occur on nearly any part of the body. The skin lesions are harmless and treatment is usually only done for aesthetics.
• OHSS: Excessive stimulation of the ovaries that usually occurs as a complication of in vitro fertilization but may also occur spontaneously. The degree of excessive ovarian stimulation may vary from mild to severe.
• OI, Type I: A genetic condition characterized mainly by fragile bones that fracture easily and blue sclerae. The fractures tend start during early childhood (when walking starts) and becomes worse after menopause or in old age. Fractures tend to heal normally. Type I is the mildest form of osteogenesis imperfecta and results from a reduced amount of normal collagen in the body. Other forms of osteogenesis imperfect tend to involve the presence of abnormal collagen.
• OLEDAID: A rare syndrome characterized mainly by a weak immuned system, bone problems, lymphoedema and hair, teeth and nail abnormalities. Death usually occurs during the first few years of life due to overwhelming infections.
• Oculo tricho dysplasia: A very rare syndrome characterized mainly by eye, tooth and hair abnormalities
• Oculopalatocerebral syndrome: A rare inherited syndrome characterized mainly by short stature, small head, mental retardation, cleft palate and eye problems.
• Oily skin: The occurrence of what appears like skin which is coated in an oily layers
• Onychotrichodysplasia and neutropenia: A very rare syndrome characterized mainly by nail, hair and blood abnormalities.
• Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
• Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
• Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
• Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
• Osteogenesis imperfecta, type 2: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
• Osteogenesis imperfecta, type 2A: A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes.
• Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
• Osteogenesis imperfecta, type IIB: A rare, recessively inherited, lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIB has a different origin of the genetic mutation but the clinical features are similar. Type IIB involves a defect on the CRTAP gene on chromosome 3p22. The main difference is that type IIA tends to involve a small head and white or light blue eyes.
• Osteosclerosis - ichthyosis - premature ovarian failure: A very rare syndrome characterized mainly by increased bone density, scaly skin and premature menopause.
• Osteosclerosis with ichthyosis and premature ovarian failure: A very rare syndrome characterized mainly by increased bone density, scaly skin and premature menopause.
• POEMS syndrome: A very rare disorder that has widespread effects on the body: P - polyneuropathy, O - organopathy, E - endocrinopathy, M - monoclonal gammopathy, S - skin changes.
• Pachydermoperiostosis: A rare genetic ectodermal disorder characterized by thick coarse skin and limb clubbing.
• Panhypopituitarism: A rare condition where all pituitary hormones are absent or reduced. The condition may be congenital or acquired through such things as pituitary tumors. The pituitary gland regulates the activity of other endocrine glands as well as controlling growth. Other endocrine glands include adrenal, parathyroid, thyroid, pancreas, ovaries and testes. Symptoms can vary greatly depending on the degree of deficiency of the various hormones.
• Pediculosis: Medical name for infection with lice (see head lice)
• Peptidic growth factors deficiency: A very rare syndrome characterized mainly by diabetes, skin abnormalities, small jaw and muscle contractures.
• Perinatal-lethal Gaucher disease: A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after.
• Peripheral vascular disease: Disease of arteries supplying the legs or sometimes arms
• Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
• Picardi-Lassueur-Little syndrome: A very rare disorder characterized by patches of hair loss involving the scalp, armpits, eyebrows and genitals. The hair loss on the scalp is accompanied by scarring of the skin. Hair follicles become eruptive and spiny usually months to years after hair loss.
• Pituitary cancer, childhood: Cancer (malignant) of the pituitary gland in children. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Pituitary tumors, adult: A benign or cancer tumor that develops in the tissue of the pituitary gland in adults. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Pityriasis (pityriasis versicolour): A superficial infection of the skin by the yeast Pityrosporum obiculare, which causes small, depigmented patches.
• Poikiloderma of Kindler: A rare disorder characterized by fragile skin which blisters easily even after a mild trauma as well as photosensitivity and striated skin pigmentation (diffuse poikiloderma striate.
• Poikilodermatomyositis - mental retardation: A very rare syndrome characterized mainly by mental retardation , muscle inflammation and weakness and pigmentation abnormalities.
• Polycystic ovaries urethral sphincter dysfunction: A rare syndrome characterized by the association of polycystic ovaries with the abnormal functioning of the urinary valve.
• Polycystic ovary syndrome: Polycystic ovary syndrome (PCOS) is an endocrine disorder that affects approximately 5% of all women.
• Pompholyx (dyshidrotic eczema): Pompholyx is an itchy skin condition characterized by small fluid-filled blisters. The condition tends to predominantly affect the fingers, toes, palms and soles. This form of eczema is relatively uncommon.
• Porphyria cutanea tarda, familial type: A rare metabolic condition involving a deficiency of the enzyme uroporphyrinogen decarboxylase.
• Porphyria cutanea tarda, sporadic type: A rare metabolic condition involving a deficiency of the enzyme uroporphyrinogen decarboxylase in the liver only. Type II involves a deficiency of the same enzymes activity in various tissues throughout the body.
• Pre-invasive breast cancer:
• Primary cutaneous amyloidosis: A rare disorder where a substance called amyloid is deposited in the skin resulting in discolored bumps or nodules in the skin. No other body organs are involved.
• Primary hypothyroidism: Primary hypothyroidism is a condition in which a defect in the thyroid gland leads to reduced production of thyroid hormone.
• Progeria: A rare fatal genetic disorder characterized by extremely premature aging.
• Progeria short stature pigmented nevi: A very rare inherited disorder characterized by premature aging, short stature, and immune system deficiency. The type and severity of symptoms is variable.
• Progressive neurodegeneration - joint laxity - cataract: A rare syndrome caused by an enzyme deficiency (Delta-1-pyrroline 5-carboxylate synthetase).
• Protoporphyria: An inherited disorder where an enzyme defect causes excess protoporphyrin to build up in the skin. The protoporphyrin reacts to light and causes a painful burning sensation on the skin.
• Prurigo: Itchy nodules created by repeated scratching.
• Prurigo nodularis of Hyde: A relatively uncommon skin disorder involving the development of firm itchy skin nodules. The nodules usually start on the arms and legs but can affect any part of the body in varying numbers. The exact cause is unknown but it is often associated with conditions such as atopic dermatitis, linear IgA disease, liver failure, kidney failure, internal malignancies and Becker's nevus.
• Pruritic urticarial papules plaques of pregnancy: A very rare skin disorder that affects women in the later stages of pregnancy. Itchy, bumpy hives and plaques develop usually on the abdominal area.
• Pseudoprogeria syndrome: A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation.
• Pseudoxanthoma elasticum: A group of inherited, progressive connective tissue disorders affecting the skin, eyes and cardiovascular system. The condition is characterized by calcium deposits in the connective tissue which affects its ability to function. Some cases remain undiagnosed to the mildness of symptoms.
• Psoriasis: Chronic skin rash condition, usually red or silver and blistery.
• Rabson-Mendenhall syndrome: A very rare genetic disorder involving severe insulin resistance which is where the body fails to be able to use insulin which is needed to control blood sugar levels.
• Rambaud-Galian syndrome: A very rare syndrome characterized by the progressive deposition of a substance called hyaline in blood vessels of the digestive tract and kidneys. Calcification of the brain is also present.
• Rapp-Hodgkin syndrome: A rare genetic multi-system disorder characterized by skin, teeth, hair and/or nail abnormalities, reduced ability to sweat and oral clefts.
• Rayner-Lampert-Rennert syndrome: A rare syndrome characterized mainly by ichthyosis (dry, scaly skin), mental retardation, dwarfism and kidney disease.
• Reflex sympathetic dystrophy syndrome: A condition characterized by pain and reduced range of motion in the shoulder and hand of the affected arm.
• Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Riboflavin deficiency: Dietary deficiency of riboflavin (vitamin B2)
• Riedel syndrome: A rare condition that occurs when fibrous tissue forms in the thyroid area and progressively destroys the thyroid gland.
• Rieger anomaly - partial lipodystrophy: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay. Additional symptoms are also variably present.
• Rodent ulcer: Facial ulcer not actually related to rodents
• Rombo syndrome: A very rare syndrome characterized mainly by
• Rosacea: Inflammatory rash affecting cheeks, nose, forehead, chin
• Rough skin: The appearance of rough skin
• Ruzicka-Goerz-Anton syndrome: A rare genetic syndrome characterized by rough scaly skin, deafness, mental retardation and skeletal anomalies.
• SIBIDS syndrome: A rare disorder characterized mainly by sulfur-deficient brittle hair as well as osteosclerosis.
• Scaly eruptions: The occurrence of scaly like eruptions that are located on the skin
• Scaly rash: A rash that scales
• Scaly skin: Toughness or scaliness of the skin
• Scleroderma: A rare, progressive connective tissue disorder involving thickening and hardening of the skin and connective tissue. There are a number of forms of scleroderma with some forms being systemic (involving internal organs).
• Scleromyxedema: A rare connective tissue disorder which causes the skin to become progressively thick and hard. The severity of symptoms is variable with lungs and circulation affected in some patients. The degree of resulting disability, disfigurement and response to treatment is variable.
• Sclerosing bone dysplasia - mental retardation: A rare disorder characterized by abnormal hardening (sclerosis) of the bone and mental retardation.
• Seborrhoea: Excessive sebum production by the sebaceous glands.
• Secondary hypothyroidism: Secondary hypothyroidism is a condition in which the activity of the thyroid gland is decreased, due to failure of the pituitary gland or hypothalamus
• Senter syndrome: A rare genetic ectodermal disorder characterized by ichthyosiform erythroderma and sensorineural deafness.
• Sequeiros-Sack syndrome: A very rare syndrome characterized mainly by nail abnormality, thin skin and sparse scalp hair.
• Sheehan Syndrome: A rare condition that occurs in women who suffer a severe uterine hemorrhage during childbirth. The resulting blood loss may damage the pituitary gland and result in hypopituitarism.
• Shock, Neurogenic: Shock is a life-threatening condition involving insufficient blood flow to the body tissues. Neurogenic shock is caused problems with the nervous system.
• Short stature - contractures - hypotonia: A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures.
• Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
• Sick building syndrome: A condition that occurs in workers who work in buildings with poor hygiene conditions with respect to ventilation, humidity and dust.
• Simpson-Golabi-Behmel syndrome: A rare genetic disorder characterized by accelerated growth and other defects.
• Sjogren's Syndrome: Autoimmune disease damaging the eye tear ducts and other glands.
• Sjogren's syndrome, juvenile, secondary to autoimmune disease: An autoimmune disorder that affects the glands involved in tear and saliva production as well as gastrointestinal tract moisture. It can occur as a secondary condition associated with other autoimmune disorders such as systemic lupus and rheumatoid arthritis.
• Sjogren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
• Sjogren-Larsson-like syndrome: A very rare syndrome characterized by a thickened scaly skin similar to that observed in sufferers of Sjogren-Larsson syndrome.
• Sjögren syndrome, primary: An autoimmune disease where the body's immune system attacks parts of the body that produce moisture such as the eyes, mouth and gastrointestinal tract. Sjögren syndrome can occur on its own (primary) or with another connective tissue disease (secondary) such as rheumatoid arthritis, systemic lupus, systemic sclerosis and polymyositis/dermatomyositis. The condition can be mild or severe.
• Sjögren syndrome, secondary: An autoimmune disease where the body's immune system attacks parts of the body that produce moisture such as the eyes, mouth and gastrointestinal tract. Sjögren syndrome can occur on its own (primary) or with another connective tissue disease (secondary) such as rheumatoid arthritis, systemic lupus, systemic sclerosis and polymyositis/dermatomyositis. The condition can be mild or severe.
• Skin allergy: A skin allergy is an adverse response by the body's immune system to an allergen. The response may occur when the allergen comes into contact with the skin or when it is inhaled or ingested. A skin allergy manifests in skin symptoms such as hives and itchy skin. The severity of the response is variable.
• Skin problems: Any condition that affects the skin
• Skin symptoms: Symptoms affecting the skin.
• Skin thickening: Thickening of the skin texture.
• Skin thinning: The thinning of the skin
• Skin turgor, decreased: The occurrence of a decrease in the skin turgor
• Sores: Sores affecting the skin.
• Spastic paraplegia - neuropathy - poikiloderma: A very rare syndrome characterized mainly by progressive stiffness and weakness of the legs, peripheral nerve degeneration and a skin disorder called poikiloderma. The eyelashes and eyebrows are usually gone by the age of three.
• Spinal shock: A state of spinal shock accompanied by temporary paralysis of the lower extremities often associated with spinal injury.
• Squamous Cell Skin Cancer: Aggressive skin cancer arising due to sun exposure; lesions are locally invasive to surrounding tissues and may metastasise
• Stiff skin syndrome: A rare inherited disorder characterized mainly by very stiff, thick skin that can affect the ability to move joints.
• Stoll-Alembik-Finck syndrome: A very rare syndrome characterized mainly by muscle, skin, sweating, tooth and facial abnormalities.
• Storm syndrome: A rare progressive genetic disorder characterized by premature aging and heart disease which results in premature death.
• Stress-related eczema: Stress-related eczema is chronic skin inflammation and irritation which is triggered by stress. The severity and extent of the skin involved is variable. Stress may trigger a flare up or may exacerbate existing eczema.
• Stuve-Wiedemann dysplasia: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Stuve-Wiedemann syndrome: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Sub clinical hypothyroidism: Sub clinical hypothyroidism, also referred to as mild hypothyroidism, is defined as normal serum free T4 levels with slightly high serum TSH concentration.
• Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
• Sunburn: A skin inflammatory reaction due to overexposure to sun
• Superficial spreading melanoma: Superficial spreading melanoma is usually characterized as the most common form of cutaneous melanoma in Caucasians.
• Swollen skin: It is caused by build up of fluid in the interstial tissues
• Temperature-related eczema: Temperature-related eczema is chronic skin inflammation and irritation which is triggered by changes in temperature, excessive heat, excessive cold or humidity extremes. The severity and extent of the skin involved is variable. Excessive temperatures may trigger a flare up or may exacerbate existing eczema.
• Tertiary hypothyroidism: Tertiary hypothyroidism results from a malfunction of the hypothalamus, the part of the brain that controls the endocrine system.
• Tetramelic deficiencies - Ectodermal dysplasia - deformed ears - other abnormalities: An extremely rare syndrome characterized by tooth, hair and limb abnormalities. The abnormalities can be quite severe in some cases. The parents may have been related in the reported cases.
• Thin skin: A condition which is characterized by skin which is thin
• Thrombocytopathy - asplenia - miosis: A very rare syndrome characterized by a lack of spleen function, reduced blood platelets and contracted pupils.
• Thumb absent - short stature - immune deficiency: A very rare syndrome characterized mainly by an absent thumb, short stature and immune deficiency.
• Thyroid disorders: Any disorder of the thyroid gland.
• Thyroid hormone plasma membrane transport defect: Thyroid problems caused by a defect in the transport of a thyroid hormone called T4 (thyroxine) within the body. The thyroid produces excessive hormones to try to compensate for that inability of the body to utilize the hormone.
• Thyroid symptoms: Symptoms affecting the thyroid gland
• Thyrotropin deficiency, isolated: An inherited deficiency of thyroid hormone (thyrotropin) which causes mental retardation, growth and other problems.
• Tough skin: Excessive toughening or scaling of skin.
• Toxic epidermal necrolysis: A skin condition causing widespread blisters to erupt over greater than 30% of the body.
• Tranebjaerg-Svejgaard syndrome: A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder.
• Tricho odonto onycho dermal syndrome: A very rare syndrome characterized by hair, tooth, nail and skin abnormalities.
• Trichodysplasia xeroderma: A rare disorder involving the skin and hair.
• Trichothiodystrophy - sun sensitivity: A rare condition characterized by short brittle hair
• Triglyceride storage disease with impaired long-chain fatty acid oxidation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities.
• Trihydroxycholestanoylcoa oxidase isolated deficiency: A rare metabolic disorder where an enzyme (Trihydroxycholestanoyl-CoA oxidase) deficiency disturbs the formation of bile acids.
• Trueb-Burg-Bottani syndrome: A very rare genetic syndrome characterized by hair, teeth and nail abnormalities as well as webbed fingers.
• Varicella - Teratogenic Agent: There is strong evidence to indicate that the development of Varicella during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
• Varicose eczema: Varicose eczema is a chronic skin condition that involves the skin on or near varicose veins in the legs - usually the skin on the ankles are affected. Varicose veins occur when the valves in particular blood vessels malfunction and allow the blood to flow backwards. The condition is more likely to occur in people who are overweight.
• Variegate porphyria: A rare metabolic disorder characterized by a deficiency of a certain enzyme which results in a build-up in the body of porphyrins or their precursors. This form of hepatic porphyria causes the sufferer to have acute attacks as well as skin sensitivity.
• Vertebral body fusion overgrowth: A condition that is characterised by increased keratinization of the skin with a x-linked genetic trait
• Vitamin A deficiency: Dietary deficiency of vitamin A
• Weak skin: Weakening of the skin texture.
• Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.
• Wiskott-Aldrich Syndrome: An inherited immune system disorder that affects only males and is characterized by recurring infections, eczema and reduced level of blood platelets (thrombocytopenia).
• Wrinkly skin syndrome: A very rare genetic disorder characterized by wrinkly skin that occurs primarily on the palms and soles but can occur on other parts of the body. The condition is also associated with various other abnormalities.
• X-linked ichthyosis: A rare genetic skin disorder occurring in males only and resulting from an inborn error of metabolism (deficiency of the enzyme steroid sulfatase).
• Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency: A variant of the connective tissue disorder called Ehlers-Danlos. It is caused by a deficiency of galactosyltransferase I.
• Yaws: A rare infections disease caused by the spiral-shaped bacteria Treponema pertenue. The disease consists of three phases: skin lesions are followed by bone, joint and widespread skin symptoms and finally by inflammation and destruction of cartilage in the nose, pharynx and palate. Transmission can be through direct contact with infected skin, insect bites or sex.
• Zellweger-like syndrome, without peroxisomal anomalies: A rare syndrome characterized by unusual facial appearance, very low muscle tone, mental retardation and metabolic defects.
• Zinc deficiency: When there is a deficiency of zinc in an individuals body

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