Tuberous sclerosis complex with connective tissue disease:a case report and literature review
10.3760/cma.j.issn.1007-7480.2019.03.009
- VernacularTitle:结节性硬化症合并结缔组织病一例报告及文献复习
- Author:
Rui LIU
1
;
Qiang WANG
;
Lei GU
;
Miaojia ZHANG
Author Information
1. 南京医科大学第一附属医院风湿免疫科 210029
- Keywords:
Tuberous sclerosis;
Connective tissue diseases;
Multiple system damage
- From:
Chinese Journal of Rheumatology
2019;23(3):185-187
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical characteristics of tuberous sclerosis complex (TSC) with connective tissue disease and to improve the understanding of TSC. Methods The clinical manifestations and laboratory examinations of TSC were analyzed. A case of TSC was reported and the related literatures were reviewed. Results A 50-year-old female presented with multisystem damage such as skin, kidney, respiratory system, central nervous system, hematological system and positive anti-nuclear antibody. Chest CT showed pulmonary lymphangiomyomatosis and cranial MRI showed bilateral ventricular subependyous nodules. Genetic testing revealed a mutation in the TSC2 gene, which was diagnosed as TSC. Conclusion TSC is an autosomal dominant hereditary neurocutaneous syndrome. As the clinical manifestations are diverse, misdiagnosis is often. Rheumatologists should pay attention to it.
