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

TL;DR

A rare case of Madelung’s disease in the scrotum mimicked liposarcoma, highlighting the need for thorough imaging and molecular testing to avoid misdiagnosis.

Contribution

Demonstrates atypical imaging features of scrotal Madelung’s disease that mimic malignancy, emphasizing diagnostic challenges and the need for molecular confirmation.

Findings

Madelung’s disease in the scrotum presented with fibrous septa and nodular features resembling liposarcoma on MRI.

Histopathology and molecular testing confirmed benign lipomatosis without MDM2 amplification, ruling out liposarcoma.

The patient remained recurrence-free after 12 months, underscoring the importance of accurate diagnosis.

Abstract

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.

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