1例以皮肤损害为首发症状的结节性硬化症并多学科讨论

Tuberous sclerosis complex with skin lesions as the initial presentation:A case report and multidisciplinary discussion

报告1例以面部血管纤维瘤为首发症状的结节性硬化症病例并进行多学科讨论。患者为年轻女性,以皮肤美容为目的就诊于皮肤科。完善辅助检查后发现该患者全身多器官受累,其中包括巨大的肾血管平滑肌脂肪瘤压迫肝脏。患者无任何自觉症状。经中南大学湘雅医院结节性硬化症多学科团队会诊后,给予患者口服依维莫司治疗,并定期随访。皮肤科医师需要关注以皮肤损害为首发症状的结节性硬化症患者全身各器官受累的情况,以早期治疗内脏病变,延长患者的生命,改善患者的生活质量。多学科协作对该病进行终身的疾病管理是提高结节性硬化症的诊治水平,改善患者预后的关键。

We reported a case of tuberous sclerosis complex with facial angiofibroma as the initial presentation and conducted a multidisciplinary discussion.The patient,a young female,was admitted to the Department of Dermatology for cosmetic purpose.After the examination,she was found to have multiple system involvement,including a large renal angiomyolipoma pressing on the liver.She never had any subjective symptom.After consultation by the multidisciplinary team of tuberous sclerosis complex,the patient was treated with everolimus orally and followed up regularly.It is suggested that dermatologists should pay attention to the systemic involvement of patients with tuberous sclerosis complex.Early intervention can prolong the life of patients and improve their life quality.Multidisciplinary collaboration for lifelong disease management is the key to enhance the diagnosis and treatment for tuberous sclerosis complex and enhance the prognosis of patients.