Xeroderma pigmentosum: A rare pigmentary disease that is caused by an enzyme deficiency. More detailed information about the symptoms, causes, and treatments of Xeroderma pigmentosum is available below.
See full list of 42 symptoms of Xeroderma pigmentosum
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See full list of 7 causes of Xeroderma pigmentosum
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Research the causes of these diseases that are similar to, or related to, Xeroderma pigmentosum:
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The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Xeroderma pigmentosum include:
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Types of Xeroderma pigmentosum
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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)
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 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 it affects 1 person per 2,000.
They list Xeroderma pigmentosum as a "rare disease".
Source - Orphanet
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