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Tuberous sclerosis complex with skin lesions as the initial presentation: A case report and multidisciplinary
Sihan Deng1, Wei Shi2, Yi Cai3
1Department of Dermatology, Xiangya Hospital, Central South University, Changsha 410008. dengsihan1@126.com.
Summary
Facial angiofibroma can be the first sign of tuberous sclerosis complex (TSC). Early diagnosis and multidisciplinary care, including treatments like everolimus, improve quality of life for TSC patients.
Area of Science:
- Dermatology
- Genetics
- Oncology
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder.
- Facial angiofibromas are common dermatological manifestations of TSC.
- TSC can affect multiple organs, often without early symptoms.
Observation:
- A young female presented with facial angiofibromas for cosmetic reasons.
- Examination revealed extensive systemic involvement, including a significant renal angiomyolipoma.
- The patient was asymptomatic despite the widespread disease.
Findings:
- Multidisciplinary team consultation confirmed tuberous sclerosis complex.
- The patient received oral everolimus and regular follow-up.
- The case highlights the importance of recognizing dermatological signs for systemic disease detection.
Implications:
- Dermatologists play a crucial role in identifying potential systemic TSC.
- Early intervention and lifelong management are vital for improving patient outcomes.
- Multidisciplinary collaboration enhances diagnosis, treatment, and prognosis in tuberous sclerosis complex.
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