Xeroderma pigmentosum is caused by the DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, or XPC gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all. [1]
Xeroderma pigmentosum is inherited in an autosomal recessive pattern. [1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.#N#People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers . Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.
Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient.:574 In extreme cases, all exposure to sunlight must be forbidden, no matter how small; as such, individuals with the disease are often colloquially referred to as "children of the night".
The ICD-10-CM Alphabetical Index links the below-listed medical terms to the ICD code Q82.1. Click on any term below to browse the alphabetical index.
This is the official approximate match mapping between ICD9 and ICD10, as provided by the General Equivalency mapping crosswalk. This means that while there is no exact mapping between this ICD10 code Q82.1 and a single ICD9 code, 757.33 is an approximate match for comparison and conversion purposes.