Macrodystrophia Lipomatosa- A Rare Congenital Anomaly: A Case Report and Review of Literature.

ABSTRACT

Macrodystrophia lipomatosa is a rare presentation and only few cases are reported in scientific literature. We report a case of Macrodystrophia lipomatosa in a 7 year young girl from a tertiary care hospital Mumbai. Case presentation A 7 year old female was presented to outpatient department with progressive enlargement of right lower limb with increase in size of right great toe since birth. On clinical examination there was non tender fluctuant soft tissue swelling with good functional limb. Scannogram showed reduction of the medial compartment of right knee joint and the right lower limb length was slightly longer compared to the left side with presence of soft tissue swelling on medial distal thigh and knee region. MRI showed un-encapsulated subcutaneous fatty tissue involving the entire right lower limb along its medial aspect up to the great toe with fatty infiltration of the vastus medialis muscle suggestive of macrodystrophia lipomatosa. Arterial and venous colour Doppler study of right lower limb was normal. Conclusion: Macrodystrophia lipomatosa is a rare congenital, non hereditary condition with localized macrodactyly and proliferation of mesenchymal element and marked increase in fibroadipose tissue. X-ray and MRI are investigation of choice. Doppler study shows normal vascularity.