Department of Paediatrics College of Medicine, University of Lagos/ Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria.
Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Am J Med Genet A. 2019 Aug;179(8):1423-1425. doi: 10.1002/ajmg.a.61194. Epub 2019 May 29.
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by mostly benign tumors of the brain, skin, heart, kidney, and eye. Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC. Because disease manifestations develop over time, early diagnosis and intervention are imperative for patients. TSC is not well described in patients from sub-Saharan Africa or of black African ancestry. Here, we report on a 4-year-old Nigerian boy with skin lesions and cardiac anomalies associated with TSC. Furthermore, we note that in areas with limited resources for genetic diagnoses, the common skin manifestations found in TSC may be especially useful clinical markers.
结节性硬化症（TSC）是一种常染色体显性遗传综合征，其特征是大脑、皮肤、心脏、肾脏和眼睛等部位存在良性肿瘤。分别编码错构瘤蛋白和结节蛋白的 TSC1 和 TSC2 基因突变导致 TSC。由于疾病表现会随时间发展，因此早期诊断和干预对患者至关重要。结节性硬化症在撒哈拉以南非洲或非洲裔黑人患者中的描述并不完善。在此，我们报告了一名 4 岁尼日利亚男孩，他患有皮肤损伤和心脏异常，与 TSC 相关。此外，我们注意到在资源有限的遗传诊断地区，TSC 常见的皮肤表现可能是特别有用的临床标志物。
