THIRD EDITION
Factsheet
Condition:
Xeroderma pigmentosum
Inheritance:
Autosomal recessive
Genetic Etiology:
Genetically heterogeneous; mutation in various genes involved in DNA repair.
Frequency:
Approximately 1/1,000,000
Clinical features:
Skin changes, including pigmentation and dryness, occur with sun exposure; approximately 50% have severe sunburn on UV exposure. Abnormalities of anterior portion of eye, including inflammation, carcinoma, and melanoma, are common. Approximately 30% have neurological abnormalities, including microcephaly and cognitive impairment.
Management:
Avoidance of sun exposure; supportive care.
Genetic counseling:
Parents of affected child have 25% recurrence risk; molecular genetic testing for some of the genes responsible for XP is available.