Tri-filial presentation of familial tuberous sclerosis with renal tumors

Abstract

Tuberous sclerosis is a rare neuro-cutaneous syndrome with autosomal dominant penetrance. Only some organs are involved, e.g., skin (earthy skin thickenings, ash leaf patches), cerebral cortex (hamartomatous nodules) and kidneys, (angiolipoma, adenocarcinoma). These hamar-tomatous swellings resemble potatoes and hence, referred to as tubers. We herein report on three patients (all familial), father, son and granddaughter, with this rare involvement, from the eastern part of India. The father and son had involvement of only the skin (i.e. nose) and kidneys while the disease penetrated further in the subsequent filial generations with son and granddaughter having skin, brain and bilateral kidney involvement. This kind of tri-filial progression has not till date, been reported from this region, making it an interesting case presentation