Institute of Photomedicine, Shanghai Skin Disease Hospital, Tongji University School of Medicine, 1278 Baode Road, Shanghai 200443, China.
Department of Dermatology, Hunan Aerospace Hospital, Changsha Hunan, China.
Photodiagnosis Photodyn Ther. 2023 Sep;43:103694. doi: 10.1016/j.pdpdt.2023.103694. Epub 2023 Jul 6.
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.
着色性干皮病（XP）是一种罕见的常染色体隐性遗传皮肤病。XP 患者的皮肤对阳光极度敏感，更容易在暴露于阳光的部位发展为皮肤恶性肿瘤。我们报告了对 3 例 XP 儿童患者进行改良 5-氨基酮戊酸光动力疗法（M-PDT）治疗的经验。他们在早期均在面部出现多发性雀斑样色素沉着性丘疹和斑块。1 例和 2 例患者发生了多发性皮肤鳞状细胞癌（cSCC）和光化性角化病（AK），3 例患者观察到基底细胞癌（BCC）。靶向基因的 Sanger 测序发现，1 例和 3 例患者携带复合杂合突变，2 例患者 XPC 基因存在纯合突变。经过多次 M-PDT 治疗，皮损消退，不良反应轻微，几乎无痛，安全性满意。
