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Diseases » Ichthyosis » Glossary

Glossary for Ichthyosis

AIDS: A term given to HIV patients who have a low CD4 count (below 200) which means that they have low levels of a type of immune cell called T-cells. AIDS patients tend to develop opportunistic infections and cancers. Opportunistic infections are infections that would not normally affect a person with a healthy immune system. The HIV virus is a virus that attacks the body's immune system.
Alopecia-contractures-dwarfism-mental retardation: A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures.
Atopic dermatitis: Skin disorder characterized by chronic inflammation, and pruritis. Often hereditary and associated with allergic rhinitis and asthma.
Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
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.
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.
Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
Cracked skin: Cracking skin areas
Dry skin: Dryness of the skin.
Eczema: Eczema is a chronic skin condition characterized by skin inflammation and irritation. The severity of extent of the condition is highly variable. It may be caused by allergies, irritants or other factors such as stress.
Erythroderma: Condition with thickening and flaking skin
Exfoliative dermatitis: Form of dermatitis where skin flakes or falls off.
Flaking skin: Where a persons skin lifts loosely in flakes
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.
Hypothyroidism: Too little thyroid hormone production.
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.
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 congenital - biliary atresia: A very rare syndrome characterized mainly by dry, rough, scaly skin from birth and an abnormal biliary tract.
Ichthyosis hystrix gravior: A rare disorder characterized by thickening of the out layer of skin as well as quill-like projections.
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).
Kawasaki disease: A childhood illness that generally affects the skin, mouth and lymph nodes.
Keratitis: Any inflammation of the cornea of the eye
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 follicularis spinulosa decalvans: A rare inherited skin disorder affecting mostly males and characterized by hardening of skin around hair follicles which leads to scarring and loss of hair. The skin on the face, neck, forearms and other areas can also be affected.
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.
Leprosy: A chronic, progressive infectious disease caused by Mycobacterium leprae which causes skin sores and also affects the eyes, mucous membranes and peripheral nerves.
Lymphoma: Cancer involving lymph nodes and the immune system.
Meleda Disease: A very rare inherited skin disorder primarily involving dry thick skin patches that develop on the palms of hands and soles of feet. The type and severity of symptoms is variable.
Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
Non-Hodgkin's Lymphoma: A type of lymphoma, a cancer affecting lymph nodes and the immune system.
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.
Rayner-Lampert-Rennert syndrome: A rare syndrome characterized mainly by ichthyosis (dry, scaly skin), mental retardation, dwarfism and kidney disease.
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.
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 skin: Toughness or scaliness of the skin
Senter syndrome: A rare genetic ectodermal disorder characterized by ichthyosiform erythroderma and sensorineural deafness.
Shwachman-Diamond Syndrome:
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.
Skin conditions: Any condition that affects the skin
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.
Tough skin: Excessive toughening or scaling of skin.
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).
Zellweger-like syndrome, without peroxisomal anomalies: A rare syndrome characterized by unusual facial appearance, very low muscle tone, mental retardation and metabolic defects.
Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.