What cancer risk do XP patients face?

XP patients have 10,000-fold increased risk of UV-induced skin cancers (BCC, SCC, melanoma); median skin cancer onset is age 8 years vs 60 years in general population; strict photoprotection dramatically reduces but does not eliminate risk.

Which XP complementation group has the worst neurological prognosis?

XPA: severe neurological involvement (sensorineural hearing loss, progressive microcephaly, intellectual disability); XPC: most common in Europe, skin cancer predominant, mild neurology; XPD (Cockayne/COFS overlap): severe early neurological disease.

What photoprotection measures are required in XP?

UV-protective clothing (UPF >50), complete UV-blocking sunscreen (SPF 50+ with UVA protection), UV-filtering window film on all home/car windows, UV-blocking goggles outdoors; LED and fluorescent bulbs emit UV and require UV filters indoors.

What is the role of oral isotretinoin for chemoprevention in XP?

Oral retinoids (isotretinoin 0.5-1 mg/kg/day) reduce new actinic keratosis and SCC formation; sustained use with careful monitoring of toxicity; vismodegib for multiple BCCs; topical 5-fluorouracil or imiquimod for field cancerization treatment.

How is XP differentiated from Cockayne syndrome?

XP: primarily UV-induced mutagenesis causing skin cancer and variable neurology; Cockayne: transcription-coupled NER defect causing severe progeroid syndrome (dwarfism, calcifications, retinal degeneration), no skin cancer; overlap syndromes (XPCS) have features of both.

Xeroderma Pigmentosum Cancer Risk and UV Protection Assessment

Calculates skin cancer risk in xeroderma pigmentosum by complementation group (XPA-XPG), sun protection compliance score, cumulative UV exposure estimate, and neurological involvement frequency.

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Frequently Asked Questions

What cancer risk do XP patients face?

Which XP complementation group has the worst neurological prognosis?

What photoprotection measures are required in XP?

What is the role of oral isotretinoin for chemoprevention in XP?

How is XP differentiated from Cockayne syndrome?