Ettinger M, Berneburg M
Universitätsklinik für Dermatologie, Franz-Josef-Strauß Allee 11, 93053, Regensburg, Deutschland.
Hautarzt. 2017 May;68(5):359-363. doi: 10.1007/s00105-017-3978-4.
Xeroderma pigmentosum is a rare autosomal recessive disorder which is caused by germinal mutations responsible for the repair of ultraviolet (UV) radiation-induced DNA lesions. It is characterized by hypersensitivity to UV radiation, poikiloderma, ocular surface disease, and in some patients pronounced sunburn and neurological disease. Patients have a very high risk of developing ocular and skin cancer on exposed body sites. No cure is available for these patients except complete protection from all types of UV radiation.
着色性干皮病是一种罕见的常染色体隐性疾病,由负责修复紫外线(UV)辐射诱导的DNA损伤的生殖细胞突变引起。其特征为对紫外线辐射过敏、皮肤异色症、眼表疾病,部分患者还会出现明显的晒伤和神经疾病。患者在暴露的身体部位发生眼部和皮肤癌的风险非常高。除了完全避免各种类型的紫外线辐射外,这些患者目前无治愈方法。