Bladder perivascular epithelioid cell tumours (PEComas) associated with tuberous sclerosis complex (TSC) are rare, with only one other case report in the literature to date. We present our case of a bladder PEComa in a young adult female with TSC arising de novo. Histopathology showed features in keeping with an angiomyolipoma and confirmatory immunohistochemical stains were positive for both melanocytic and smooth muscle markers. She was well at the 6-month follow-up post-surgical resection. Given the rarity of such lesions in the bladder, we discuss the diagnostic and prognostic challenges, clinical implications and a brief review of the literature to date.
Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.
Rare association of turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex