Madelung’s disease – progressive, excessive, and symmetrical deposition of adipose tissue in the subcutaneous layer: case report and literature review

Abstract

Madelung’s disease is a rare disorder described for the first time in the year 1846 by Brodie. It is characterized by the occurrence of progressive, excessive, and symmetrical deposits of adipose tissue in the subcutaneous layer. Most often, these changes concern the neck, the nape of the neck, arms, and upper back, giving the patients a specific, pseudoathletic appearance. Madelung’s disease is also known as multiple symmetrical lipomatosis, benign symmetrical lipomatosis, and Launois-Bensaude syndrome. The most commonly affected ones are men who drink alcohol in excessive amounts. The fat masses emerging in the course of the disease are painless but can lead to adverse repercussions. Patients may experience dysphagia, dysphonia, difficulty in breathing, and limited mobility of the neck. The reasons for the willingness to take up treatment are also often esthetic reasons. The disease is usually accompanied by numerous metabolic disorders. The etiology of the disease has not been sufficiently explained so far, which creates diagnostic and therapeutic difficulties. Currently used treatment is limited to surgical resection of the resulting lesions or liposuction. Unfortunately, the effectiveness of these activities is limited. Most patients experience recurrence after treatment. This paper discusses the essence of Madelung’s disease, numerous aspects of etiology, the manner of diagnosis, and treatment based on current literature data.

A case report of Multiple Symmetric Lipomatosis (MSL) in an East Asian Female

“…Patients with MSL present features of symmetrical fat localization on their neck, shoulder, trunk, upper arms, and occiput [ 1 , 3 , 13 – 15 ]. MSL is often confused with simple obesity by its similar clinical features and symptoms, hence it is important to identify key hallmarks to differentiate the two conditions [ 9 ].…”

“…Due to unknown reasons, cases of the disease have been more frequently reported in specific geographical areas (e.g., the Mediterranean region) [ 4 , 7 ]. However, the condition has only rarely been reported in Asian females [ 8 , 9 ]. In this report, we present a case of an Asian female with MSL.…”

<p>Cbl Proto-Oncogene B (CBLB) c.197A>T Mutation Induces Mild Metabolic Dysfunction in Partial Type I Multiple Symmetric Lipomatosis (MSL)</p>

“…[6][7][8][9] The cause of the disease remains unknown, but alcohol abuse is an important risk factor in MSL development and avoidance of alcohol consumption may prevent disease progression. [9][10][11] Furthermore, other factors, like diabetes, hyperlipidemia, fatty liver, obstructive sleep apnea syndrome (OSAHS), or other metabolic diseases, were also reported to be associated with MSL development, 12 although Harsch IA and we showed normal metabolic parameters in MSL patients. 13,14 Molecularly, gene mutation or deletion was associated with MSL development.…”

Human Adipose-Derived Stem Cells in Madelung’s Disease: Morphological and Functional Characterization

“…Currently, MD diagnosis is reached through anamnesis, clinical examination, X-ray computed tomography, or magnetic resonance imaging. Moreover, though other studies report a lack in comorbidities, the disease has been frequently associated with alcoholism, liver disorders, diabetes, and dyslipidemia [5]. The only available treatment for this disease is surgery, through fat tissue excision, liposuction, or a combination of both but is sadly not definitive due to its high recurrence rate.…”

“…To overcome this problem, new therapeutic strategies targeting pathogenetic mechanisms are requested. Indeed, several studies tried to elucidate the biology underneath the pathology without reaching a definitive conclusion [5,6]. In fact, it has been reported that MD tissues and cells show aberrant growth, mitochondrial energy metabolism, brown fat tissue alterations, and adipogenic index, ascribing these phenomena to specific proteins, such as Uncoupling Protein (UCP)-1 (a brown adipocyte marker) [7,8], calcyphosine-like (CAPSL) protein [9], or microRNAs such as miR-125a-3p and miR-483-5p, all associated with adipogenesis or fatty acid oxidation in peroxisomes [10].…”