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Delayed Diagnosis of Tuberous Sclerosis Complex: A Case Report
Selcen Kundak1, Himmet Yalabik1
1Department of Dermatology, İzmir Şehir Hastanesi, Sağlık Bilimleri Üniversitesi, Izmir, TUR.
Abstract:
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder with variable clinical expression. We report the case of a 26-year-old woman who presented with characteristic cutaneous findings, including facial angiofibromas, periungual fibromas, and a fibrous cephalic plaque. Further evaluation revealed renal angiomyolipomas and retinal astrocytic hamartomas. Despite a history of childhood seizures, the diagnosis was delayed until adulthood. This case highlights the role of dermatological examination in identifying TSC, particularly in patients with subtle or asymptomatic systemic involvement.
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