Type 1C Multiple Symmetrical Lipomatosis: A Cause of Misdiagnosis in Females.

Multiple symmetrical lipomatosis (MSL) is a disease that causes symmetrical fat deposits in the neck, shoulders, and upper trunk. It is more common in the neck area in men who consume alcohol. The male-to-female ratio varies from 15:1 to 30:1. Madelung's disease has been reported in a small number of female patients who do not consume alcohol. Pseudoathletic appearance (MSL type 1C) is rare and causes misdiagnosis. We would like to present a 50-year-old woman with an athletic appearance who had fat deposits on her shoulders and upper chest. After excluding obesity and Cushing's syndrome, which were initially considered, we aimed to remind people of this entity that causes symmetrical fat deposits in the upper trunk in females.

Multidisciplinary diagnostic dilemma in differentiating Madelung's disease - the value of superb microvascular imaging technique: A case report.

BACKGROUND: Madelung's disease, also known as multiple symmetrical lipomatosis, is a rare, underrecognized disorder of fat metabolism that results in unusual accumulation of subcutaneous fat deposits around the neck, shoulders, upper arms, trunk, hips, and upper thighs. Our case demonstrates the importance of differential diagnosis and the value of a superb microvascular imaging technique for suspecting and confirming Madelung's disease. Timely diagnosis and alcohol abstinence could prevent the progression of growing fatty masses and prevent surgery. CASE SUMMARY: A 62-year-old male was admitted to the Rheumatology center complaining of symmetric subcutaneous tumors in the area of the parotid and submandibular salivary glands, small soft masses in the occiput and upper third of the forearm, rashes on calves. A high titer of rheumatoid factor and low concentrations of serum complements were detected. The high-end ultrasound and magnetic resonance imaging examinations of all affected areas of the soft tissues showed predominantly adipose tissue (lipomas) without suspicion of liposarcoma. The biopsy from the small salivary gland revealed no pathology. After evaluating the patient's clinical presentation (symmetrical lipomatosis, cirrhosis, gynecomastia, anemia, hyperuricemia), Madelung's disease, type I, along with the psoriatic rash and psoriatic arthritis and secondary liver cirrhosis were established. CONCLUSION: Madelung's disease consists of many co-occurring disorders imitating and overlapping with other conditions. Ultrasonography is the first choice for suspecting and confirming symmetrical lipomatosis.

A case of Madelung's disease presenting with obstructive sleep apnea.

Madelung's disease is a rare condition characterized by diffuse, multiple, symmetric, nonencapsulated fatty accumulation predominantly in the neck and upper trunk, which can predispose to obstructive sleep apnea. This case report involves a 51-year-old man affected by Madelung's disease who complained of difficulty breathing and inability to sleep in a supine position. An overnight pulse oximetry was performed, and the result was suggestive of moderate to severe obstructive sleep apnea. After auto-titrating continuous positive airway pressure therapy, the patient was prescribed continuous positive airway pressure therapy at the pressure setting of 13 cm of water. Alcohol cessation was also advised. At the 6-month follow-up visit, a marked improvement in neck cosmetic appearance and alleviation of sleep disturbance-related symptoms were observed. Polysomnography finally confirmed the diagnosis of severe obstructive sleep apnea. This case illustrates that a patient with Madelung's disease may present with a clinical presentation of obstructive sleep apnea, which should be promptly diagnosed. Continuous positive airway pressure remains the treatment of choice.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.

Lipomas have often been associated with mtDNA mutations and were mainly observed in patients with mutation in mitochondrial tRNAlysine which is also the most frequent mutation associated with MERRF. Up to date, no systematic studies have been developed in order to assess the incidence of lipomas in large cohorts of mitochondrial patients.The aim of this study is to analyze the incidence and characteristics of lipomas among an Italian cohort of patients with mitochondrial diseases. A retrospective, database-based study (Nation-wide Italian Collaborative Network of Mitochondrial Diseases) of patients with lipomas was performed. A total of 22 (1.7%) patients with lipomas have been identified among the 1,300 mitochondrial patients, enrolled in the Italian database. In about 18% multiple systemic lipomatosis (MSL) was the only clinical manifestation; 54% of patients showed a classical MERRF syndrome. Myopathy, alone or in association with other symptoms, was found in 27% of patients. Lactate was elevated in all the 12 patients in which was measured. Muscle biopsy was available in 18/22 patients: in all of them mitochondrial abnormalities were present. Eighty six percent had mutations in mtDNA coding for tRNA lysine. In most of patients, lipomas were localized along the cervical-cranial-thoracic region. In 68% of the patients were distributed symmetrically. Only two patients had lipomas in a single anatomical site (1 in right arm and 1 in gluteus maximum). MSL is often overlooked by clinicians in patients with mitochondrial diseases where the clinical picture could be dominated by a severe multi-systemic involvement. Our data confirmed that MSL is a rare sign of mitochondrial disease with a strong association between multiple lipomas and lysine tRNA mutations. MSL could be considered, even if rare, a red flag for mitochondrial disorders, even in patients with an apparently isolated MSL.

Benign symmetric lipomatosis with lingual involvement: Case report and literature review.

Benign symmetrical lipomatosis (BSL) is a rare disorder characterized by diffuse, multiple, symmetric and non-encapsulated fat masses generally localized in the face, neck and upper trunk. An uncommon case of lingual affliction in BSL, presented with macroglossia, sleep apnea, dysphagia and dysartria is described. Bilateral partial glossectomy was performed, with an improvement in initial symptoms one year after surgery. Only seven other BSL cases with lingual involvement have been reported in the literature. This case report and literature review highlights that BSL with lingual affliction is extremely rare, almost exclusive for BSL Type I and affects predominantly middle-aged males from Mediterranean countries. Surgical treatment with unilateral or bilateral partial glossectomy usually restores normal tongue function, but most be accompanied with a postoperative follow up to assure that recurrence does not occur.

Multiple Symmetric Lipomatosis (Madelung's Disease) Presenting as Bilateral Huge Gynecomastia.

Multiple symmetric lipomatosis (MSL), or Madelung's disease, is a rare disease of unknown etiology. It is characterized by the presence of loose adipose tissue deposits localized in the cervical region and upper body. MSL presenting as bilateral huge gynecomastia is an extremely rare phenomenon. The present report describes a case of MSL in a 66-year-old man. The patients presented with bilateral breast bulging. He had a history of cigarette and alcohol use. His condition was treated with a bilateral nipple-sparing mastectomy. MSL can present as a form of gynecomastia, for its accurate diagnosis and proper treatment of MSL, increasing awareness of the clinical characteristics of the disease is required, especially amongst breast surgeons. Herein, we review the literature and discuss the clinical characteristics, pathology, and surgical treatment of MSL.

Multiple Symmetric Lipomatosis (Madelung's Disease) Presenting as Bilateral Huge Gynecomastia / 한국유방암학회지

Multiple symmetric lipomatosis (MSL), or Madelung's disease, is a rare disease of unknown etiology. It is characterized by the presence of loose adipose tissue deposits localized in the cervical region and upper body. MSL presenting as bilateral huge gynecomastia is an extremely rare phenomenon. The present report describes a case of MSL in a 66-year-old man. The patients presented with bilateral breast bulging. He had a history of cigarette and alcohol use. His condition was treated with a bilateral nipple-sparing mastectomy. MSL can present as a form of gynecomastia, for its accurate diagnosis and proper treatment of MSL, increasing awareness of the clinical characteristics of the disease is required, especially amongst breast surgeons. Herein, we review the literature and discuss the clinical characteristics, pathology, and surgical treatment of MSL.

Lipomatose simétrica múltipla / Multiple symmetric lipomatosisis

A lipomatose simétrica múltipla ou síndrome de Madelung é uma doença rara, caracterizada por depósitos de tecido adiposo de caráter benigno, de rápido crescimento, principalmente em região cervical, dorso e, mais raramente, membros e face, em geral relacionados ao alcoolismo crônico. O tratamento cirúrgico é paliativo e a recidiva é comum. Neste trabalho é relatado um caso de paciente portador de lipomatose simétrica múltipla, seguido de revisão de literatura enfocando diagnóstico e tratamento dessa afecção.

Multiple symmetric lipomatosis, also called Madelung's syndrome, is a rare disease characterized by the accumulation of rapidly growing benign fat tissue, particularly in the cervical region, back, and more rarely in the extremities and face. It is generally associated with chronic alcoholism. Surgical treatment is palliative, and relapse is common. This paper reports the case of a patient with multiple symmetric lipomatosis followed by a review of the literature addressing the diagnosis and treatment of this condition.

Bilateral Vocal Cord Palsy Associated with Multiple Symmetrical Lipomatosis(Madelung's Disease) / 대한이비인후과학회지

Multiple symmetrical lipomatosis (MSL) is a rare disorder characterized by the presence of multiple, symmetric, unencapsulated fat masses in the face, neck, and other areas. Typically, this entity has been related to the presence of three anterior bulges in the neck. MSL is usually described in adults from 30 to 60 years old, with an incidence of about 1 in 25,000 and a male-to-female ratio of 15 : 1 to 30 : 1. More than 90% of the patients have associated alcoholism. The etiology of MSL remains unknown, but an abnormal lipogenesis induced by catecholamines has been observed. The accumulation of fat prevents accurate clinical assessment of the neck and obscures other underlying abnormalities. In the current report, the authors described one case of MSL associated with bilateral vocal cord palsy and reviewed the associated literature.