Disease

ERCC4 associated xeroderma pigmentosum1, 2, 3

Gene

ERCC4

Inheritance AR
Current Treatments avoid exposure to UVA and UVB (found in sunlight) and UVC (found in some artificial light sources). Oral isotretinoin, oral niacinamide, topical imiquimod and topical fluorouracil
Evidence for Treatment guideline4
Non-Molecular Testing Availability no
Disease Frequency (per 100,000) 0.25
Genes Included in Disease Frequency DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Xeroderma+Pigmentosum&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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