Successful treatment of non-melanoma skin cancer in three patients with Xeroderma Pigmentosum by modified ALA-PDT.

Xeroderma pigmentosum(XP) is a rare autosomal recessive genodermatosis. Individuals with XP are characterized by severe skin sensitivity to sunlight, and more susceptible to the development of skin malignancies in sun-exposed regions. We report the experience of modified 5-aminolaevulinic acid photodynamic therapy (M-PDT) in the treatment of three children with XP. They all developed multiple freckle-like hyperpigmented papules and plaques on the face from an early age. Multiple cutaneous squamous cell carcinoma (cSCC) and actinic keratosis (AK) were developed in case 1 and case 2, and basal cell carcinoma (BCC) was observed in case 3. Sanger sequencing of targeted gene identified that case 1 and case 3 carried compound heterozygous mutations, and case 2 carried a homozygous mutation in the XPC gene. After multiple courses of M-PDT, the lesions were removed with mild adverse reactions, nearly painless and satisfactory safety.