Madelung's disease involving the scrotum: a case report and diagnostic pitfalls with liposarcoma

Madelung's disease is a rare metabolic disorder characterized by diffuse, symmetrical adipose tissue proliferation, strongly associated with chronic alcohol consumption. Scrotal involvement is exceedingly rare and can mimic malignancy.

We report a 59-year-old man with a history of chronic alcohol intake who presented with progressive bilateral scrotal enlargement. Unlike previously reported cases of scrotal Madelung's disease, which typically demonstrate homogeneous and unencapsulated fat proliferation, MRI in this patient revealed atypical imaging features, including multiple internal fibrous septa and distinct nodular-like foci within fat-containing scrotal masses, raising suspicion of liposarcoma. Complete surgical excision was performed. Histopathology confirmed benign lipomatosis with CDK4(+), MDM2(+), Ki-67 (+,2%), and negative MDM2 amplification on fluorescence in situ hybridization (FISH), arguing against well-differentiated liposarcoma. The patient remained recurrence-free at 12-month follow-up.

This case emphasizes the critical role of multimodal medical imaging, rigorous histopathological evaluation, and molecular testing in establishing an accurate diagnosis and guiding appropriate management, while highlighting that Madelung's disease may occasionally present with atypical imaging features, such as nodules and septa which closely mimic a malignant lesion.