Madelung's Disease Evolving to Liposarcoma: An Uncommon Encounter

Life (Basel). 2024 Apr 17;14(4):521. doi: 10.3390/life14040521.

Abstract

(1) Background: Madelung's disease-known also as Benign Symmetric Adenolipomatosis (BSA) or Multiple Symmetric Lipomatosis (MSL), is a rare subcutaneous tissue disease characterized by the proliferation of non-encapsulated fat tissue with mature adipocytes. Patients develop symmetrical fatty deposits of varying sizes, (located particularly around the neck, shoulders, upper and middle back, arms, abdomen, and thighs), having clinical, esthetic, and psychiatric repercussions. (2) Methods: We report a case diagnosed with BSA upon admission to the Neurological and Internal Medicine Departments of the Emergency Clinical Hospital of Galati. (3) Results: This patient developed compressive phenomena and liposarcoma with liver metastasis, followed by death shortly after hospital presentation. The histopathology examination confirmed right latero-cervical liposarcoma and round cell hepatic metastasis. The specific metabolic ethiopathogenic mechanism has not been elucidated, but the adipocytes of BSA are different from normal cells in proliferation, hormonal regulation, and mitochondrial activity; a rare mitochondrial gene mutation, together with other interacting genetic or non-genetic factors, have been considered in recent studies. A thorough literature search identified only three cases reporting malignant tumors in BSA patients. (4) Conclusions: The goal of our paper is to present this rare case in the oncogenic synergism of two tumors. In the management of this BSA disorder, possible malignant transformation should be considered, although only scarce evidence was found supporting this.

Keywords: Launois–Bensaude syndrome; Madelung’s disease; alcoholism; benign symmetric adenolipomatosis; cervical compression; liposarcoma; malignant transformation; multiple symmetric lipomatosis.

Publication types

  • Case Reports

Grants and funding

The APC was funded by the Dunarea de Jos University of Galati, Romania as academic support, with no influence on the research, content of the manuscript, or publication.