Unusual presentation of Madelung's disease: case report
DOI:
https://doi.org/10.63688/2awsr520Keywords:
Madelung disease, multiple symmetric lipomatosis, lipectomy, adipose tissue, case reportAbstract
Introduction: Madelung disease (MD), also known as multiple symmetric lipomatosis, is a rare disorder characterized by progressive, diffuse, symmetric, unencapsulated deposits of mature adipose tissue. It predominantly affects middle-aged men and is frequently associated with chronic alcohol consumption. Its presentation in non-alcoholic women is exceptional and poses diagnostic challenges.
Methods: We report the case of a 44-year-old non-alcoholic woman with cervicothoracic adipose masses present for 28 years and accelerated growth since 2020. Evaluation included medical history, physical examination, laboratory tests, computed tomography, and histopathological analysis. Staged surgical debulking was performed, beginning with posterior cervical lipectomy, followed by outpatient clinical monitoring.
Results: Physical examination revealed multiple soft, mobile, painless cervicothoracic masses, including an approximately 20-cm upper interscapular lesion, associated with cosmetic deformity and local discomfort. Computed tomography demonstrated bilateral, symmetric, unencapsulated adipose tissue accumulations in the posterior and lateral cervical regions, supraclavicular fossae, and interscapular region, without destructive invasion. Histopathology confirmed unencapsulated mature adipose tissue arranged in lobules separated by thin fibrous septa, without atypia, lipoblasts, or necrosis. Three months after surgery, the cervicodorsal deformity had decreased.
Conclusions: MD should be considered in patients presenting with symmetric cervicothoracic adipose masses, including women without alcohol consumption. Clinical, radiological, and histopathological correlation enables diagnosis and guides treatment. Surgical debulking can improve deformity; however, prolonged follow-up is necessary because of the risk of recurrence.
Downloads
References
1. Chen CY, Fang QQ, Wang XF, Zhang MX, Zhao WY, Shi BH, et al. Madelung's disease: lipectomy or liposuction? Biomed Res Int. 2018;2018:3975974. https://doi.org/10.1155/2018/3975974
2. Busetto L, Sträter D, Enzi G, Coin A, Sergi G, Inelmen EM, et al. Differential clinical expression of multiple symmetric lipomatosis in men and women. Int J Obes Relat Metab Disord. 2003;27(11):1419-1422. https://doi.org/10.1038/sj.ijo.0802427
3. Chan ES, Ahuja AT, King AD, Lau WY. Head and neck cancers associated with Madelung's disease. Ann Surg Oncol. 1999;6(4):395-397. https://doi.org/10.1007/s10434-999-0395-7
4. Serrano C, Arregui M, Carrasco I, Hindi N, Martínez-Trufero J, Martínez-García J, et al. SEOM-GEIS Spanish clinical guidelines for the management of soft-tissue sarcomas (2024). Clin Transl Oncol. 2025;27(4):1460-1471. https://doi.org/10.1007/s12094-024-03842-5
5. Caponnetto F, Manini I, Bulfoni M, Zingaretti N, Miotti G, Di Loreto C, et al. Human adipose-derived stem cells in Madelung's disease: morphological and functional characterization. Cells. 2021;10(1):44. https://doi.org/10.3390/cells10010044
6. Nisoli E, Regianini L, Briscini L, Bulbarelli A, Busetto L, Coin A, et al. Multiple symmetric lipomatosis may be the consequence of defective noradrenergic modulation of proliferation and differentiation of brown fat cells. J Pathol. 2002;198(3):378-387. https://doi.org/10.1002/path.1212
7. Liu Q, Lyu H, Xu B, Lee JH. Madelung disease epidemiology and clinical characteristics: a systemic review. Aesthetic Plast Surg. 2021;45(3):977-986. https://doi.org/10.1007/s00266-020-02083-5
8. Pinto CIC, Carvalho PJMC, Correia MMO. Madelung's disease: revision of 59 surgical cases. Aesthetic Plast Surg. 2017;41(2):359-368. https://doi.org/10.1007/s00266-016-0759-x
9. Hayes AJ, Nixon IF, Strauss DC, Seddon BM, Desai A, Benson C, et al. UK guidelines for the management of soft tissue sarcomas. Br J Cancer. 2025;132(1):11-31. https://doi.org/10.1038/s41416-024-02674-y
10. Mejía Granados DM, de Baptista MB, Bonadia LC, Bertuzzo CS, Steiner CE. Clinical and molecular investigation of familial multiple lipomatosis: variants in the HMGA2 gene. Clin Cosmet Investig Dermatol. 2020;13:1-10. https://doi.org/10.2147/CCID.S213139
11. Al Ghazal P, Grönemeyer LL, Schön MP. Lipomatoses. J Dtsch Dermatol Ges. 2018;16(3):313-327. https://doi.org/10.1111/ddg.13460
12. Jiao C, Liu W, Qiao Y, Qi S, Shen Y. A case report on Madelung's disease and comprehensive review of the literature. Orphanet J Rare Dis. 2024;19(1):302. https://doi.org/10.1186/s13023-024-03303-w
13. Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, et al. Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation. JCI Insight. 2024;9(4). https://doi.org/10.1172/jci.insight.174097
Downloads
Published
Issue
Section
License
Copyright (c) 2026 Mario Gabriel Salas Martínez, Anthony Bryan Cevallos Falcones, Jorge Luis Guzmán León, Christian Abraham Orellana Franco, Erick Cristóbal Mora Yépez (Autor/a)

This work is licensed under a Creative Commons Attribution 4.0 International License.
Los artículos publicados en la revista se distribuyen bajo la licencia Creative Commons Atribución 4.0 Internacional (CC BY 4.0). Esta licencia permite a terceros descargar, copiar, distribuir, adaptar y reutilizar una obra, incluso con fines comerciales, siempre que se otorgue el crédito adecuado al autor original.