Tuberous Sclerosis Complex Presenting as Periungual Fibromas: A Rare Case Report and Literature Review

Tuberous sclerosis complex (TSC) is a rare autosomal-dominant disorder involving multiple organs including skin, brain, heart, lung, kidney and liver. It usually occurs as early as birth or even in utero, with rare cases diagnosed in their adulthood. Here, we present a rare adult case of TSC presenting as periungual fibromas (PF).

A 67-year-old gentleman showed recurrence of multiple periungual polypoid tumors on all the toes of the right foot when presenting to our department. On physical examination, there were polypoid and verrucous protrusions on the nail fold side of the proximal toe. Computed tomography scan indicated multiple subependymal nodules and renal cyst. Pathological analysis for the polypoid tissues showed fibroepithelial-like lesions, epidermal hyperkeratosis, and acanthosis. Therefore, the patient was diagnosed with TSC presenting as PF.

We reported a rare case of TSC diagnosed in the adulthood based on the presence of PF, subependymal nodules, and renal cyst.