Tuberous Sclerosis with Macrodactyly

Abstract

Tuberous sclerosis with macrodactyly is a very uncommon presentation. We report a 15-year-old girl with a thick, loose hyperpigmented area on the dorsum of the left hand with macrodactyly. A skin biopsy specimen from the dorsum of the left hand revealed dense collagenization in the dermis. Radiographs showed marked irregular thickening of the cortex of the metacarpals and phalanges of the left index and middle fingers.