儿童结节性硬化症25例临床分析

The Clinical Analysis of 25 Cases in Children with Tuberous Sclerosis Complex

目的分析儿童结节性硬化症皮损与疾病过程的关系，提高早期诊断率。方法回顾性分析25例儿童结节性硬化症的临床资料。结果25例均有皮肤表现，包括色素脱失斑（24／25）、面部血管纤维瘤（15／25）、牛奶咖啡斑（13／25）、鲨鱼皮斑（9／25）、头部纤维性斑块（10／25）、指（趾）甲纤维瘤（2／25）、口内纤维瘤（2／25）。15例出生时即有皮损，其中色素脱失斑6例、牛奶咖啡宽1例、色素脱失斑和牛奶咖啡斑同时存在4例、色素脱失斑和头部纤维性斑块同时存在2例、指（趾）甲纤维瘤2例。面部血管纤维瘤在1-4岁出现，青春期时增多增大。结论结节性硬化症在婴幼儿期或胎儿期即可发病。大多数皮损有各自的发病年龄和发展规律。色素脱失斑是最早和最常见的皮肤表现，早期发现3处以上时应高度怀疑本病。

Objective To summarize clinical features of skin lesions in children with tuberous sclerosis complex（TSC） and study the relationship between lesions and disease in order to improve early diagnosis. Methods Retrospective analysis was performed on clinical data of 25 patients with TSC. Results All patients had cutaneous lesions, including hypomelanotic macules （ 24/25 ）, angiofibromas （ 15/25 ）, coffee spots （ 13/25 ）, shagreen patches （ 9/25 ）, fibrous cephalic plaques （ 10/25 ）, ungual fibromas （2/25）, and intraoral fibromas （2/25）. 15 patients had lesions at birth, including hypomelanotic macules（6/15 ）, milk coffee spots（ 1/15 ）, hypomelanotic macules combined with milk coffee spots （4/15）, hypomelanotic macules combined with fibrous cephalic plaque （2/15）, ungual fibromas （2/15）. Angiofibroma usually appeared at 1 to 4 years old, and became apparent in adolescence. Conclusion TSC can occur in infants or fetuses. The lesion type and the development of lesions vary with the onset age. Hypomelanotic macule is the most common and earliest lesion. Therefore, TSC should be suspected if there are three or more depigmented macules.