Definition
Xeroderma pigmentosum (OMIM #278700, #278720, #278730, #278740, #278750, #610651) is a genetic disease in which a defect in the DNA repair system prevents DNA damage caused by UV radiation from being detected and repaired, resulting in a high risk of tumor development in skin exposed to sunlight.
Key Data
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Synonym | XP, melanosis lenticularis progressiva |
Genes | DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC |
Gene products | DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC |
Function | Detection of UV-induced DNA damage and global genome repair |
Heredity | Autosomal recessive |
Prevalence | 1:1,000,000 in the USA and Europe, slightly elevated incidence in the Middle East, Japan, and North Africa |
Genotype-phenotype correlation | A genotype-phenotype correlation study is currently underway. |
Penetrance | High |
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Diagnosis
An integrated examination of the typical clinical symptoms and family history and/or molecular genetic evidence of biallelic pathogenic variants in DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, or XPC
Method
Genetic evidence can be confirmed by single-gene testing. The use of panel examinations consisting of multiple genes together with exome or genome sequencing may also be helpful.
Basic Variant After Localization
Differential Diagnoses
Clinical Presentation
Clinical Presentation
Predisposition to Cancer
Therapeutic Considerations
Surveillance Recommendations
Surveillance Recommendations
Evidence-based standards are lacking for early detection, particularly during childhood. The AACR consensus recommendations are listed for you as follows.
Additional Information
Open Clinical Trials / Registries
There are currently no open clinical trials/registries for patients with Xeroderma Pigmentosum that we can recommend to you for more information.