Xeroderma pigmentosum (medical condition): A rare pigmentary disease that is caused by an enzyme deficiency.
See also:
Xeroderma pigmentosum:
»Introduction: Xeroderma pigmentosum
»Symptoms of Xeroderma pigmentosum
Xeroderma pigmentosum: [MIM*278700] an eruption of exposed skin occurring in childhood and characterized by photosensitivity with severe sunburn in infancy and the development of numerous pigmented spots resembling freckles, larger atrophic lesions eventually resulting in glossy white thinning of the skin surrounded by telangiectases, and multiple solar keratoses that undergo malignant change at an early age; results from several rare autosomal recessive complementation groups in which DNA repair processes are defective, so that they are more liable to chromosome breaks and cancerous change when exposed to ultraviolet light. Severe ophthalmic and neurologic abnormalities are also found.De Sanctis-Cacchione syndrome.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.
Xeroderma pigmentosum: a rare genetic condition characterized by an eruption of exposed skin occurring in childhood and photosensitivity with severe sunburn; inherited as a recessive autosomal trait in which DNA repair processesm are defective so they are more likely to chromosome breaks and cancers when exposed to ultraviolet light.
Source: WordNet 2.1
Xeroderma pigmentosum: An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities. --2004
Source: Diseases Database
Xeroderma pigmentosum: rare pigmentary atrophic autosomal recessive disease manifested as an extreme photosensitivity to ultraviolet light as the result of a deficiency in the enzyme that permits excisional repair of utraviolet damaged DNA.
Source: CRISP
Xeroderma pigmentosum: A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.
Source: MeSH 2007
These medical condition or symptom topics may be relevant to medical information for Xeroderma pigmentosum:
Xeroderma pigmentosum is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Xeroderma pigmentosum, or a subtype of Xeroderma pigmentosum,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when if affects 1 person per 2,000.
They list Xeroderma pigmentosum as a "rare disease".
Source - Orphanet
Xeroderma pigmentosum (medical condition): See Xeroderma pigmentosum (disease information).
»Introduction: Xeroderma pigmentosum
»Symptoms of Xeroderma pigmentosum
These medical disease topics may be related to Xeroderma pigmentosum:
Source - NIH
Source - MeSH 2007
Source - MeSH 2007
Source - CRISP
Source - WordNet 2.1
Source: CRISP
Source: CRISP
The following list attempts to classify Xeroderma pigmentosum into categories where each line is subset of the next.
Source: WordNet 2.1
Source: Diseases Database
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