Macrodactyly in the context of tuberous sclerosis complex (TSC) is a known but rare
manifestation. We report the case of a boy diagnosed with TSC at 2 years and 4 months of
age, presenting with bilateral macrodactyly of the first three fingers of both hands, with
underlying radiographic changes, in whom molecular analysis identified a frameshift
mutation on the TSC1 gene (encoding hamartin), leading to a premature stop codon. We
reviewed the literature for reported cases of TSC patients with the same manifestation. In …

A 19-year-old man presented with gradually progressive thickening of the fourth finger of his
right hand, which was first noticed at 7 years of age. There was no pain or difficulty in moving
the finger. The patient had been previously diagnosed with tuberous sclerosis complex
(TSC). On physical examination, the distal aspect of the fourth digit of the right hand
appeared thicker than the other fingers. The overlying skin was loose and hyperpigmented,
with a thickened velvety appearance and a doughy consistency. There was a mild flexion …