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Case Reports
Journal Article
Tuberous Sclerosis with Disseminated Malignancy.
Journal of the Association of Physicians of India 2016 November
Tuberous sclerosis is characterized by typical skin and clinical manifestations with predilection to neoplasia. We describe the case of a 42-year old female who presented with a mass and pain in right lumbar region with constitutional symptoms and generalized body aches since last one year. She had adenoma sebaceum, subungual fibromas and hepatomegaly. CT chest, abdomen and MRI revealed mass in the right renal fossa with wide spread extensions in the abdomen, left renal angiomyolipomas (AMLs) and intracerebral lesions. Her clinical and radiological findings were suggestive of tuberous sclerosis with multiple mass lesions. She had past history of being operated for right renal AML twelve years ago. In current admission she developed refractory seizures and required mechanical ventilation. Biopsies from the renal fossa mass and liver revealed epithelioid variant angiomyolipomas. It is an uncommon variant which can present with features of malignancy or local recurrence or distant metastasis occasionally. Our case emphasizes the importance of being acquainted with skin lesions which can help in early diagnosis and management of tuberous sclerosis.
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