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 |
| Therapy |
Semantics
| 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 |