Tuberous sclerosis complex with connective tissue disease:a case report and literature review / 中华风湿病学杂志

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.