以皮肤损害为首发表现的结节性硬化症 1 例报告并多学科讨论
Tuberous sclerosis complex with skin lesions as the initial presentation: A case report and multidisciplinary discussion.
机构信息
Department of Dermatology, Xiangya Hospital, Central South University, Changsha 410008.
Department of Urology, Xiangya Hospital, Central South University, Changsha 410008.
出版信息
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jul 28;47(7):973-980. doi: 10.11817/j.issn.1672-7347.2022.210452.
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.
我们报告了一例以面部血管纤维瘤为首发表现的结节性硬化症病例，并进行了多学科讨论。患者为年轻女性，因美容目的入住皮肤科。检查后发现她有多系统受累，包括压迫肝脏的大型肾血管平滑肌脂肪瘤。她从未有过任何主观症状。经结节性硬化症多学科团队咨询后，患者口服依维莫司治疗，并定期随访。建议皮肤科医生应注意结节性硬化症患者的全身受累情况。早期干预可以延长患者的生命并提高其生活质量。多学科合作进行终身疾病管理是提高结节性硬化症诊断和治疗水平、改善患者预后的关键。
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