Wang Senfen, Liu Yuanxiang, Wei Jinghai, Zhang Jian, Wang Zhaoyang, Xu Zigang
Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Department of Dermatology, Shenzhen Children's Hospital, Shenzhen, China.
Pediatr Dermatol. 2017 Sep;34(5):572-577. doi: 10.1111/pde.13204. Epub 2017 Aug 2.
BACKGROUND/OBJECTIVES: Tuberous sclerosis complex (TSC) is a genetic disorder and facial angiofibromas are disfiguring facial lesions. The aim of this study was to analyze the clinical and genetic features of TSC and to assess the treatment of facial angiofibromas using topical sirolimus in Chinese children.
Information was collected on 29 patients with TSC. Genetic analyses were performed in 12 children and their parents. Children were treated with 0.1% sirolimus ointment for 36 weeks. Clinical efficacy and plasma sirolimus concentrations were evaluated at baseline and 12, 24, and 36 weeks.
Twenty-seven (93%) of the 29 patients had hypomelanotic macules and 15 (52%) had shagreen patch; 11 of the 12 (92%) who underwent genetic analysis had gene mutations in the TSC1 or TSC2 gene. Twenty-four children completed 36 weeks of treatment with topical sirolimus; facial angiofibromas were clinically undetectable in four (17%). The mean decrease in the Facial Angiofibroma Severity Index (FASI) score at 36 weeks was 47.6 ± 30.4%. There was no significant difference in the FASI score between weeks 24 and 36 (F = 1.00, p = 0.33). There was no detectable systemic absorption of sirolimus.
Hypomelanotic macules are often the first sign of TSC. Genetic testing has a high detection rate in patients with a clinical diagnosis of TSC. Topical sirolimus appears to be both effective and well-tolerated as a treatment of facial angiofibromas in children with TSC. The response typically plateaus after 12 to 24 weeks of treatment.
背景/目的：结节性硬化症（TSC）是一种遗传性疾病，面部血管纤维瘤是毁容性面部病变。本研究旨在分析中国儿童TSC的临床和遗传特征，并评估局部应用西罗莫司治疗面部血管纤维瘤的疗效。
收集29例TSC患者的信息。对12名儿童及其父母进行基因分析。儿童使用0.1%西罗莫司软膏治疗36周。在基线以及第12、24和36周评估临床疗效和血浆西罗莫司浓度。
29例患者中有27例（93%）有色素减退斑，15例（52%）有鲛鱼皮斑；12例接受基因分析的患者中有11例（92%）在TSC1或TSC2基因中存在基因突变。24名儿童完成了36周的局部西罗莫司治疗；4例（17%）面部血管纤维瘤在临床上无法检测到。36周时面部血管纤维瘤严重程度指数（FASI）评分的平均下降率为47.6±30.4%。第24周和第36周之间FASI评分无显著差异（F = 1.00，p = 0.33）。未检测到西罗莫司的全身吸收。
色素减退斑通常是TSC的首发症状。基因检测在临床诊断为TSC的患者中具有较高的检出率。局部应用西罗莫司似乎是治疗TSC儿童面部血管纤维瘤的有效且耐受性良好的方法。治疗12至24周后反应通常趋于平稳。
