Macrodystrophia lipomatosa of the index and middle fingers with median nerve fibrolipomatous hamartoma: a case report

Abstract

Macrodystrophia lipomatosa is a rare congenital, non-hereditary disorder characterized by localized fibrofatty overgrowth, most commonly affecting the digits. We report a case of a 10-year-old boy with unilateral progressive enlargement of the right index and middle fingers since birth, causing cosmetic deformity and functional limitation. Radiographs showed osseous and soft-tissue hypertrophy, while MRI demonstrated diffuse fibrofatty proliferation with characteristic signal intensity and associated fibrolipomatous hamartoma of the median nerve. MRI was crucial in establishing the diagnosis and defining disease extent.