Macrodystrophia Lipomatosa Extending Into the Abdominal Wall and Breast: A Case Report

Abstract BackgroundMacrodystrophia lipomatosa is a rare nonhereditary congenital gigantism, characterized by overgrowth of mesenchymal and fibro-adipose tissue, affecting one or more digits of the extremities. Here, we report a rare case of macrodystrophia lipomatosa of the entire right lower limb with extension of hypertrophied fatty tissue into the abdominal wall and breast. Case presentationA 32 years old woman was born with abnormally elongated and thickened right leg, and the condition aggravated gradually. The disease was multiple, including the right leg, right abdominal wall, and the left breast were also involved. The patient mainly complained that she was unable to walk but with the knee flexed. Physical examination revealed that the elongation and thickening was proportional to the left leg, and the involved joints were malformed and dysfunction. X-ray and Computed tomography angiography (CTA) showed the bones and vessels were elongated and thickened, and the joints were hypertrophic and swollen. Amputation, volume reduction and liposuction was performed on the lesions. Histological examination could see abnormal fibro-fatty tissue hyperplasia, the adipocytes were invasive, and part of muscles presented fat degeneration. The lesions showed no recurrence for one year after surgery.ConclusionAfter reviewing the literature of the macrodystrophia lipomatosa, we believed that our case was rare because the hypertrophied fatty tissue extended into the abdominal wall and breast, which was different from former studies and had not been documented worldwide. This novel case will further deepens the understanding of this disease, and will be useful for clinicians in diagnosing it.