Overview
Diagnosis
Xeroderma pigmentosum is diagnosed based on a combination of clinical features and genetic testing. A healthcare professional may suspect XP if a child shows extreme sensitivity to sunlight, severe sunburns after minimal exposure, or early development of freckles and pigmentation changes. Laboratory tests can confirm the diagnosis through DNA repair assays that detect defective nucleotide excision repair. Genetic testing can identify mutations in one of the genes responsible for XP, confirming the diagnosis and helping guide family counseling.
Treatment
There is no cure for xeroderma pigmentosum, but treatment focuses on preventing skin and eye damage. Strict protection from ultraviolet (UV) light is essential, including the use of sunscreen, protective clothing, hats, and UV-blocking glasses. Regular dermatologic and ophthalmologic checkups are needed to detect and treat precancerous or cancerous lesions early. Surgical removal of skin cancers may be required. Vitamin D supplementation is often advised due to limited sun exposure. Genetic counseling is recommended for affected families.
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