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Xeroderma Pigmentosum - Medical Condition Information

Xeroderma Pigmentosum

XP
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📋Overview

Xeroderma pigmentosum (XP) is a rare inherited disorder characterized by extreme sensitivity to ultraviolet (UV) light due to defective DNA repair mechanisms. It is caused by mutations in genes responsible for nucleotide excision repair, leading to an inability to correct UV-induced DNA damage. This results in early onset of severe sunburns, freckling, pigmentation changes, and a markedly increased risk of skin cancers. XP is the modern and preferred term for this condition.

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Medical codes (for reference)

UMLS CUI: C0043346
ICD-10-CM
Q82.1
MeSH
D014983
SNOMED CT (US)
44600005

Codes are provided for reference and interoperability. They are not a diagnosis.

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