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色素性干皮病(XP)是一种常染色体隐性遗传性疾病,以严重光敏性皮炎为主要症状,合并皮肤癌的发生率很高。机体对于经紫外线照射引起的DNA损伤的修复机能有缺陷是本病的发病机理。XP共分10型。A型及D型除有特征性皮肤症状外,经常合并各种神经症状。特别是A型XP从幼儿到儿童期常伴有智力发育不全、深反射消失、四肢痛性痉挛、听力和构音障碍、瞳孔对光反应迟钝、眼震、震颤和共济失调等,随着年龄增长症状加重。作者报告一例不典型神经症状的A型XP。病例报告:患者女性,11岁。父母近亲结婚。病人出生时有轻度黄疸,一周后出现日光过敏性皮炎,面部发红和起水疱。1岁时发现色素沉着及日光过敏性皮炎于春秋季节反复发生冬季好转。18个
Pigmented dry skin disease (XP) is an autosomal recessive genetic disease, with severe photosensitive dermatitis as the main symptom, the incidence of skin cancer is high. The body’s mechanism of repair of DNA damage caused by UV irradiation is defective. XP is divided into 10 types. A type and D type in addition to the characteristic skin symptoms, often with various neurological symptoms. In particular, type A XP from childhood to childhood are often accompanied by mental retardation, deep reflex disappear, limb cramps, hearing and dysarthria, pupillary light reaction, nystagmus, tremor and ataxia, etc., with Increased symptoms of aging. The authors report a case of atypical neurological symptoms of type A XP. Case Report: Patient Female, 11 years old. Married parents and relatives. Patients with mild jaundice at birth, a week after the sun allergic dermatitis, facial redness and blisters. 1 year old found that pigmentation and sunlight allergic dermatitis in the spring and autumn repeated winter turnaround. 18 pcs