A Chinese patient with Madelung's disease and alcoholic cardiomyopathy: a case report and literature review.

BACKGROUND: Madelung's disease is a rare disorder characterized by massive deposits of excess subcutaneous fat around the neck, shoulders, arms, and other parts of the body. It has a high prevalence among middle-aged alcoholic men in Mediterranean countries and a low incidence in Asian populations. Although patients with Madelung's disease are often associated with a variety of alcohol-induced metabolic disorders, the comorbidity of alcoholic cardiomyopathy is rarely reported, probably because of its low incidence or neglect by clinicians. CASE REPORT: A 67-year-old man with a 10-year history of soft fat masses in the neck developed chest tightness and shortness of breath on exertion for the past 2 years. Laboratory tests revealed elevated γ-glutamyl transferase, glucose intolerance, hyperuricemia, hyperlipidemia, and anemia. Computed tomography of the neck showed symmetric nonencapsulated fat deposits, mainly in the anterior cervical regions. Echocardiography showed left heart enlargement and severe global left ventricular systolic dysfunction with an ejection fraction of 31%. Coronary angiography revealed 40-50% stenoses of the left anterior descending and right coronary arteries. After the exclusion of other causes of dilated cardiomyopathy, the patient was finally diagnosed with type I Madelung's disease and alcoholic cardiomyopathy. He underwent lifestyle changes, including reducing his alcohol intake, and received full pharmacological treatment for heart failure. One and a half years later, his cardiac function was partially restored, and all metabolic abnormalities improved except for elevated liver enzymes. CONCLUSIONS: Alcohol use disorder should be assessed in patients with newly diagnosed Madelung's disease. Screening for alcoholic cardiomyopathy in alcoholic patients with Madelung's disease is necessary for early detection of cardiac abnormalities and intervention to improve the prognosis of this group of patients.

Lipomatoses.

Lipomatoses are benign proliferation of adipose tissue. Lipomas (benign fat tumors) are the most common component of lipomatosis. They may be unique or multiple, encapsulated or not, subcutaneous or sometimes visceral. In some cases, they form large areas of non-encapsulated fat hypertrophy, with a variable degree of fibrosis. They can develop despite the absence of obesity. They may be familial or acquired. At difference with lipodystrophy syndromes, they are not associated with lipoatrophy areas, except in some rare cases such as type 2 familial partial lipodystrophy syndromes (FPLD2). Their metabolic impact is variable in part depending on associated obesity. They may have functional or aesthetic consequences. Lipomatosis may be isolated, be part of a syndrome, or may be visceral. Isolated lipomatoses include multiple symmetrical lipomatosis (Madelung disease or Launois-Bensaude syndrome), familial multiple lipomatosis, the painful Dercum's disease also called Adiposis Dolorosa or Ander syndrome, mesosomatic lipomatosis also called Roch-Leri lipomatosis, familial angiolipomatosis, lipedema and hibernomas. Syndromic lipomatoses include PIK3CA-related disorders, Cowden/PTEN hamartomas-tumor syndrome, some lipodystrophy syndromes, and mitochondrial diseases, especially MERRF, multiple endocrine neoplasia type 1, neurofibromatosis type 1, Wilson disease, Pai or Haberland syndromes. Finally, visceral lipomatoses have been reported in numerous organs and sites: pancreatic, adrenal, abdominal, epidural, mediastinal, epicardial… The aim of this review is to present the main types of lipomatosis and their physiopathological component, when it is known.

Perineal Benign Symmetric Lipomatosis in a Female Patient: A Case Report.

BACKGROUND Benign symmetric lipomatosis (BSL), also known as Madelung's disease, is a rare disease generally characterized by fat deposits painlessly and symmetrically distributed in the body. In former studies, the incidence of BSL is highest in male patients and more frequent in the Mediterranean area. Asian females seem to be rarely affected. BSL often occurs in the neck or upper-back of patients, and is related to various metabolic disorders. Unusual clinical appearances may add difficulties in diagnosis. CASE REPORT In this report, we present a case of BSL in a 33-year-old woman's perineal region, with no clear BSL risk factors (sex, medical history, sites, and comorbidities), which increased the difficulties in diagnosis. The patient's quality of life was seriously affected by the continuous growth of fat tissue. Based on MRI and B-ultrasonic examinations, she underwent excision at our outpatient facility. Combined with the patient's clinical appearance, imaging results, and pathological tests, we could finally determine the diagnosis of BSL. After 18 months of follow-up, this patient recovered well with no recurrence. CONCLUSIONS Difficulties in diagnosis can seriously affect doctors' treatment approaches. BSL rarely occurs in the lower body, and our patient showed no clear risk factors. Therefore, imaging and pathological examinations can be essential tools for dermatological and plastic surgeons to diagnose and treat rare BSL.

Shedding Light on Multiple Symmetric Lipomatosis: An Overlooked Syndrome in the Evaluation of Obesity.

BACKGROUND Multiple symmetric lipomatosis (MSL), also known as Launois-Bensaude syndrome, is a rare syndrome that is frequently misinterpreted as simple obesity. It has seldom been reported. Both conditions can coexist; however, unlike common obesity, in which total body fat is well distributed, patients affected by MSL present with symmetrical, painless fat masses that predominantly appear in the face, neck, occipital region and supraclavicular fossa. Launois-Bensaude syndrome's etiology is still poorly understood but an association with alcohol use has been documented. CASE REPORT A 49-year-old woman was referred to our department due to class II obesity (body mass index of 39.8 kg/m²). She had a history of arterial hypertension and daily wine consumption (2 glasses on average). She complained of weight gain after menopause and she reported having tried multiple times to lose weight by herself without success. On physical examination, the patient had an unusual pattern of fat distribution: exuberant symmetrical fat masses that were localized in her arms and thighs and spared her face, neck, forearms, and lower legs. She claimed that these masses had a rapid onset and then stabilized. The clinical history and the patient's phenotype were compatible with a non-classic type of Launois-Bensaude syndrome. CONCLUSIONS We concluded that our patient's condition encompasses more than just simple obesity; it involved a distinct form of adiposopathy that led to a completely different clinical approach. A detailed physical examination seems to be key for clinical suspicion of this rare syndrome, which can be a true pitfall in obesity evaluation.

Analysis of Madelung disease based on sc-RNA sequencing: A case report and literature review.

Madelung disease (MD) was first described by Brodie in 1846 as a rare multiple lipoma. It is a benign tumor characterized by symmetrical diffuse adipose tissue deposition in the proximal extremities and neck. Until now, the etiology and pathogenesis of the disease have not been fully explained, resulting in difficulties in diagnosis and treatment; moreover, palliative treatment, such as surgical resection of adipose tissue or liposuction, is still the mainstream treatment for MD. However, the effectiveness of palliative surgery is limited, and most patients still relapse or metastasize after treatment. Therefore, we analyzed the relationship between tumor cells and immune cells in MD using single-cell RNA sequencing for the first time and combined an analysis of our results with a review of previous literature reports. Our study provides a new perspective on the pathogenesis of MD and provides a vital clinical basis for targeted therapy. DATA AVAILABILITY: The authors declare that all the data supporting the findings of this study are available within the article and its Supplemental information files.

Multiple symmetrical lipomatosis: A literature review and case report of a patient with Madelung's disease.

<b><br>Introduction:</b> Madelung's disease is a rare condition characterised by the symmetric growth of fatty tumours (lipomas) around the neck, shoulders, upper arms and trunk.</br> <b><br>Case report:</b> We present a description of a male patient with extensive adipose tissue overgrowth around the neck. Once the possibility of malignancy was excluded, the patient's history and clinical and radiological findings led to the diagnosis of Madelung's disease. A two-stage surgery was planned and the patient underwent lipectomy of the lipomas around the neck.</br> <b><br>Conclusions:</b> This article analyses the clinical data with Madelung's disease; discusses its aetiology, clinical manifestations, diagnosis and treatment methods; and provides help with clinical diagnosis and treatment.</br>.

Is There any Link between Madelung Disease and Ischemic Stroke? A Case Report.

A 70-year-old man presented to the Emergency Department with left hemiparesis, slurred speech, and elevated blood pressure. A brain computed tomography scan revealed an ischemic lesion in the right frontal and parietal lobes. At clinical examination bilateral pseudo gynecomastia was detected together with the presence of multiple elastic, adipose bulging masses on the neck, trunk, and upper limbs. A type I-II Lanois-Bensaude syndrome was diagnosed. Ultrasonography confirmed their adipose nature. Multiple symmetric lipomatosis, also known as Lanois-Bensaude syndrome or Madelung disease, is a very rare condition with extreme variability in its clinical presentation. The simultaneous occurrence of ischemic stroke and lipomatosis in the same patient might be due to a mitochondrial function impairment, which could lead to abnormal fat tissue distribution and defective cellular energy production, thus resulting in neuronal sufferance and death. The possibility that, in our case, lipomatosis could have represented a further risk factor in promoting the stroke occurrence is discussed. In our opinion, multiple symmetric lipomatosis must be carefully evaluated to improve the patients' quality of life.

[A case of Madelung's disease combined with laryngeal cancer].

Madelung's disease is a lipodystrophy of unknown etiology. This article reports a case of Madelung's disease complicated with laryngeal cancer. The clinical manifestations of the patient were progressive hoarseness and dyspnea, dysphagia, and diffuse symmetrical swelling of the neck, submental, and submandibular. Dynamic laryngoscopy revealed a giant cauliflower-like neoplasm in the throat, with the left vocal cord fixed. Laryngeal CT showed laryngeal carcinoma （transglottic type）, signs of lymph node metastasis in the left jugular chain region, and Madelung syndrome in the neck. Biochemical tests showed albumin 38.7 g/L, globulin 27.5 g/L, prealbumin 160 g/L, aspartate aminotransferase 14 IU/L, γ-transpeptidase 80 IU/L, alanine aminotransferase 7 IU/L, Creatinine 43 µmol/L. Preoperative pathology suggested squamous cell carcinoma. Admission diagnosis included laryngeal cancer （transglottic T4N1M0）, Ⅲ degree laryngeal obstruction, Madelung's disease and fatty liver. The patient recovered well after surgery.

Exceptional manifestation of Madelung's disease after liver transplantation.

Unlike simple obesity, Madelung's disease (MD) is a rare disease characterized by symmetric accumulation of massive adipose tissue on the neck, the superior part of the trunk and limbs, leading to a pathognomonic cosmetic deformity. Here, we report an extremely rare case of MD associated with bilateral gynecomastia in a 61-year-old man, with a history of recent liver transplantation for alcoholic liver disease (ALD).

Multiple symmetric and multiple familial lipomatosis.

Lipomas are the most common soft tissue tumors and are malignant in only 1% of cases. Lipomatosis is defined as the presence of multiple benign lipomas on the body, without lipoatrophy. Their impact on quality of life is significant. Different entities have been described such as symmetrical multiple lipomatosis (MSL), also called Madelung's disease and familial multiple lipomatosis (FML). MSL occurs preferentially in men (but also women) who are alcohol abuser. There are different subtypes of the disease, the most classic of which affects the upper body and the nuchal region with a buffalo hump appearance. A metabolic component with obesity is frequent. In contrast to Dercum's disease, there is no pain. SAOS, complications of the metabolic syndrome and of alcohol abuse including cancers, may be associated and should be screened. FML has been little described in the literature since Brodie's first report in 1846. FML occurs preferentially in the third decade but equally in women and men. Its autosomal dominant component is classically accepted with variable penetrance within the same family. Association with naevi, angiomas, polyneuropathies and with gastrointestinal comorbidities has been reported. Interestingly, and in contrast with most lipodystrophy disorders, the patients show an insulin sensitivity profile. A better understanding of the underlying pathophysiological mechanisms would open up avenues on therapeutic research, since treatments are only symptomatic to date.

Proptosis of the eye: a potential form of Madelung's disease.

Madelung's disease is a rare disorder characterised by excessive and symmetrical deposits of adipose tissue, typically in the cervicofacial region. Alcohol is a known cause of the condition, however, there are reports that this condition is genetically inherited. Lipomatosis of the orbit has been described in the alcoholic Madelung's disease, however, in our case report, we believe this is the first reported instance of proptosis caused by the genetic form of the condition. We present a 69-year-old woman, with a medical history of genetic Madelung's disease, who presented with bilateral proptosis worse in her right eye. Her ocular examination was normal apart from exophthalmometry, showing bilateral proptosis. This was confirmed by an MRI, which further showed intraorbital fat deposition bilaterally. Due to the stability of her condition, no treatment was deemed necessary. We highlight the importance of monitoring for progressive optic nerve compromise and liposarcomatous malignant transformation.

Madelung's disease in a non-alcoholic Ethiopian male patient mistaken for obesity: a case report.

BACKGROUND: Madelung's disease (MD) is a rare disorder of fat storage characterized by the presence of diffuse, symmetrical deposition of subcutaneous fat around the neck, shoulder, arm, trunk and thigh. Although its cause is not fully understood, this benign condition is commonly presented among adult males with Mediterranean origin and history of alcohol abuse. Patients often presents with compression of vital structures, cosmetic disfigurement and associated psychosocial problems and systemic comorbidities. It is often under-recognized by physicians, possibly due to obliviousness of the condition and often misdiagnosed as obesity. CASE PRESENTATION: We present a 65-year-old non-alcoholic black Ethiopian man, presented with a slowly growing body fat in his trunk and proximal limbs associated by multiple joint and back pain which got worse recently. He denied any history of chronic alcohol use. On examination, huge, bilateral, non-tender, soft, globular masses in his torso, shoulder, arm and thigh with bilateral breast enlargement. On investigation his biochemical profile was normal except hyperuricemia (10.6 mg/dl). Imaging of the cervical and lumbar vertebrae showed excess subcutaneous fat depositions with degenerative disc disease. Biopsy from the mass revealed non-encapsulated lipoma and he was diagnosed with type II MD. We treated his pain with supportive therapy and discharged in stable condition. The patient deferred surgical treatment. CONCLUSIONS: Madelung's disease is often reported among white adult males with chronic alcoholism. However, our case reported a black man without the typical risk factor which was misdiagnosed as obesity. Hence, clinicians should be aware of MD and need to consider it in their differential diagnosis when encountered with a patient having progressive centripetal fat deposition with or without a history of alcoholism and systemic comorbidities. As early detection of this disorder helps to avoid diagnostic delays and prevent complications through timely interventions which will in turn improves patient quality of life.