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

Publication date: Jul 06, 2023

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.

Concepts Keywords
Genodermatosis Basal cell carcinoma
Photodiagnosis M-PDT
Severe Mutation
Sunlight Xeroderma pigmentosum


Type Source Name
disease MESH melanoma
pathway KEGG Melanoma
disease MESH skin cancer
disease MESH Xeroderma Pigmentosum
drug DRUGBANK Alpha-Linolenic Acid
disease MESH malignancies
disease MESH freckle
disease MESH squamous cell carcinoma
disease MESH actinic keratosis
disease MESH basal cell carcinoma
pathway KEGG Basal cell carcinoma

Original Article

(Visited 1 times, 1 visits today)

Leave a Comment

Your email address will not be published. Required fields are marked *