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Copyright of Romanian Journal of Family Medicine / Revista Română de Medicina Familiei is the property of Media DOM Express and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Madelung’s disease (MD), a rare disorder of adipose tissue, is characterized by multiple, symmetrical, non-encapsulated adipose tissue depositions in typical locations. MD typically affects middle-aged males of Mediterranean and Eastern European origin. The pathophysiology remains unknown, yet chronic alcohol consumption is frequently reported and features of metabolic syndrome are usually present. Most cases are sporadic and patients may report symptoms of compression (dysphagia, hoarseness) and/or present with a characteristic phenotypic appearance. Herein, we present a case of a 70-year-old man with a 20-year history of recurrent lipomatous formations, who had undergone several surgical procedures. His past medical and family history were unremarkable, biochemistry analysis and endocrine workup were normal, previous pathology results were indicative of benign lipomas and he reported chronic alcohol consumption. This otherwise asymptomatic patient had a very remarkable “pseudoathletic appearance”, reminiscent of anabolic steroid use. On the basis of past medical history, laboratory workup and clinical appearance, the diagnosis of MD was made and the patient was referred to the Plastic Surgery Department for further evaluation and treatment.

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.

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. [ABSTRACT FROM AUTHOR]

Copyright of China Journal of Oral & Maxillofacial Surgery is the property of Shanghai Jiao Tong University, College of Stomatology and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Presentamos el caso de un varón de 56 años de edad con historia de 35 años de abuso de alcohol y sin otra patología asociada, que presentaba masas en hombros, mamas y flancos que habían aumentado de tamaño de forma progresiva durante los últimos dos años y medio, y que dificultaban su movilidad y su actividad laboral. El estudio mediante Tomografía Axial Computerizada apreció un exceso de deposito graso de distribución homogénea no encapsulado (difuso) sobre los hombros, mamas y cintura abdominal, sin afectación de estructuras profundas. Consideramos importante conocer los dos tipos existentes de Lipomatosis Simétrica Benigna, por sus diferencias tanto en la localización de las masas lipomatosas como en la afectación de estructuras profundas. Es por ello que aportamos este caso de Lipomatosis Simétrica Benigna tipo II sin afectación cervical ni de estructuras profundas.We report the case of a 56 years-old man with a 35-years history of alcohol abuse, but no other illness. The patient presented masses on shoulders, breasts and flanks that had enlarged progressively over the previous two and a half years, and that hindered his work by restricting mobility. Computed Tomography revealed non-encapsulated excess fat deposits evenlydistributed on shoulders, breasts and abdomen, without affecting the deep structures. Awareness of the two types of Benign symmetric lipomatosis is necessary because of their differences, both in location of the lipomatous masses and in the involvement of the deep structures. We therefore report this case of type II Benign symmetric lipomatosis without cervical or deep structure involvement.

Introduction: Patients with syndromic causes of lipomatosis of the head and neck, although rare, often present late in the course of the disease in a myriad of ways, including concomitant airway obstruction, severe functional limitations, and/or significant cosmetic defects. The goal of this report was to review the literature and present a concise overview of the major syndromes causing lipomatosis of the head and neck. Methods: A literature search was performed to gather information on syndromic lipomatosis of the head and neck region. PubMed was searched for the following conditions: Familial multiple lipomatosis (FML), multiple symmetrical lipomatosis (MSL), congenital infiltrating lipomatosis of the face (CIL-F), and Nasopalpebral lipoma-coloboma syndrome (NLCS). Data gathered included results of surgical cases of the head and neck region. Results: A total of 48 reports comprising 172 cases of syndromic lipomatosis of the head and neck region were deemed eligible for review. Eighty-five percent of patients were male with an average age of 35 years. Seventy-four percent of cases appeared in the neck region, whereas 23 % presented in the face and scalp. 89 % of cases were treated with surgical excision, with 11 % of cases treated with liposuction. The most common complications were hematoma and seroma in MSL, recurrence in FML, neuropraxia in CIL-F, and mild telecanthus in NLCS. Conclusions: Syndromic causes of lipomatosis are generally benign in nature but difficult to control long term. Because these conditions include frequent recurrence and subsequent difficulty in clearing the disease, the authors advocate early and aggressive surgical excision of syndromic lipomatosis. No Level Assigned: This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors . [ABSTRACT FROM AUTHOR]

Abstract: Multiple Symmetrical Lipomatosis (MSL) is an unusual disorder characterized by the development of axial lipomas in adulthood. The pathoetiology of lipoma tissue in MSL remains unresolved. Seven patients with MSL were followed for a mean period of 12years (8–20years). All patients had cervical lipomas ranging from subtle lesions to disfiguring masses; six patients had peripheral neuropathy and five had proximal myopathy. Myoclonus, cerebellar ataxia and additional lipomas were variably present. All patients showed clinical progression. Muscle histopathology was consistent with mitochondrial disease. Five patients were positive for mtDNA point mutation m.8344A>G, three of whom underwent lipoma resection — all samples were positive for uncoupling protein-1 mRNA (unique to brown fat). Lipoma from one case stained positive for adipocyte fatty-acid protein-2 (unique to brown fat and immature adipocytes). This long-term study hallmarks the phenotypic heterogeneity of MSL's associated clinical features. The clinical, genetic and molecular findings substantiate the hypothesis that lipomas in MSL are due to a mitochondrial disorder of brown fat. [Copyright &y& Elsevier]

Symmetrical lipomatosis of the tongue is an extremely rare condition. To date, only eight cases have been reported in the literature. We present an extremely rare case of intramuscular lipomatosis of the tongue in a 67-year-old male. The present case is unique because of its infiltrating nature and the extension of the lesion. Glossectomy was performed to reduce the size of the tongue and for diagnosis. The literature is reviewed and clinical characteristics, pathology, and surgical treatment are discussed. Laryngoscope, 2012 [ABSTRACT FROM AUTHOR]

Objective: To study whether substantial subcutaneous adipose tissue (SCAT) can induce glucose and lipid metabolism dysfunction and possible underlying mechanisms. Methods: We report a male patient with multiple symmetrical lipomatosis (MSL) suffering from increased adipose tissue accumulation in abdomen and back for 7 years, accompanied by the gradual expansion of excess adipose tissue to the nuchal region, upper thorax, upper arms and shoulders. Four obese male adults of similar age and body mass index were chosen as controls (only 4 subjects consented to blood and tissue sampling).Blood samples were collected before anesthesia in the early morning after overnight fasting, and tissue samples from all subjects and the patient were obtained under general anesthesia. Glucose tolerance, insulin resistance in the oral glucose tolerance test and insulin-releasing test were studied. A pathologic examination was made and expression of SCAT-related genes was determined. Results: Although adipose tissue mainly accumulated in SCAT, the patient had no impaired glucose tolerance, insulin resistance and dyslipidemia. Importantly, the circulating adiponectin concentration was higher than in the control group (50.3 ± 3.2 vs. 28.4 ± 2.2 μg/ml, p < 0.05). Accordingly, adiponectin and leptin mRNA expression in SCAT was higher than in the control group (1.83 and 3.75 times, p < 0.05) but TNF-α and IL-6 mRNA levels were lower (decreased by 79 and 45%, p < 0.05). Furthermore, pathologically, adipocyte size in the patient’s SCAT was smaller than in the control group (66.2 ± 6.1 vs. 78.9 ± 6.6 and 98.6 ± 12.8 μm in SCAT and omentum adipose tissue, respectively, p < 0.05). Conclusion: In spite of the patient’s SCAT accumulation, glucose and lipid metabolism dysfunction was absent. The mechanism may involve the interaction of different factors, including the subcutaneous formation of small adipocytes, the secretion of protective adipokines such as adiponectin and anti-inflammatory effects of SCAT. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Summary: Introduction: Launois–Bensaude''s disease (LBD) is a rare condition affecting patients aged between 30 and 60, and being considered as more frequent in males. It is characterized by symmetric fat deposits mainly on the neck and upper trunk that can lead to major functional and aesthetic damage. The cause of LBD is unknown but alcoholism is often associated. Patients and methods: The objectives were to study the epidemiological, clinical, and biological particularities, the therapeutic modalities and the evolution of 17 patients (nine males, eight females) seen between 2003 and 2005 at a medical and surgical consultation, and to compare them to the literature data. Seven patients were seen again in our out-patient department and the nine others (one was lost for follow-up) agreed to answer our questionnaire on the phone. Results and comments: The high proportion of female in our study is due to the high prevalence of female alcoholism in Northern France. Indeed, all patients were alcoholic but eight were deprived at the time of the first consultation. Mean age for the beginning of the disease was 48. Mean delay between the first signs and our medical and surgical consultation was eight years. Tumoral masses mainly involved the neck, the trunk, and the deltoid areas. Surgical treatment was performed in nine deprived patients for at least 12 months with a satisfactory functional and aesthetic result and a mean decrease of 50% was noted for the dermatology life quality index (DLQI). We observed no immediate complications but two cases with hypertrophic scar and one case with persistent dysesthesia. Four out of them presented recurrence corresponding with resumption of alcohol abuse, confessed in two cases and suspected in the two others. In the absence of surgical management, the disease was stable in three cases but evolved in four cases. No spontaneous regression was observed. [Copyright &y& Elsevier]

We report the case of a 56 years-old man with a 35-years history of alcohol abuse, but no other illness. The patient presented masses on shoulders, breasts and flanks that had enlarged progressively over the previous two and a half years, and that hindered his work by restricting mobility. Computed Tomography revealed non-encapsulated excess fat deposits evenly distributed on shoulders, breasts and abdomen, without affecting the deep structures. Awareness of the two types of Benign symmetric lipomatosis is necessary because of their differences, both in location of the lipomatous masses and in the involvement of the deep structures. We therefore report this case of type II Benign symmetric lipomatosis without cervical or deep structure involvement. [ABSTRACT FROM AUTHOR]

Summary: Introduction: Madelung''s disease is characterized by benign, non-encapsulated accumulations of fat in a symmetrical manner. Although rare, symmetrical lipomatosis involving the tongue exclusively has been previously reported. Here another case is presented of Madelung''s disease involving the tongue. Case report: A 57-year-old woman was referred with the diagnosis of Madelung''s disease, with slight difficulty in swallowing, dysarthria and dyspnoea while sleeping due to tongue swelling. Clinical examination revealed multiple, large disfiguring soft masses involving neck, upper arms and hips. There was enlargement of the tongue with bilateral protrusions and buccal displacement of the teeth. The masses were soft and non-tender. Bilateral partial glossectomy was performed under general anaesthesia. Histology revealed adipose tissue, interspersed within the lingual musculature. Discussion: Lipomas in Madelung''s disease are characterized by multiplicity, non-encapsulation and invasiveness. Over the years, the fat deposits enlarge significantly, become cosmetically deforming, and cause dyspnoea and dysphagia in advanced cases. The aetiology of benign symmetrical lipomatosis is still unknown. It is often accompanied by liver dysfunction probably due to alcoholism. Treatment is limited to surgical removal of the fatty tissue, in patients with a severe cosmetic deformity causing psychological stress, and in patients with dyspnoea or dysphagia if there is restriction of the aerodigestive tract. [Copyright &y& Elsevier]

Objective:To discuss the pathophysiology and various treatment methods of multiple symmetrical lipomatosis.Case report:We report a case of multiple symmetrical lipomatosis in a middle-aged man. He presented to us with an extensive, disfiguring neck mass. Clinical examination and computed tomography suggested a lipomatous mass without compression of vital neck structures. The proximity of the lipomatous mass to the carotid sheaths attracted our interest. We performed surgical excision in this case, because of the deep infiltrative behaviour of the lipoma. The benefits and drawbacks of liposuction and surgical excision of extensive neck lipomatosis are discussed.Conclusion:Surgical excision and liposuction are complementary treatments in the management of multiple symmetrical lipomatosis. Patients should be aware of the limitations of both surgical options, and the risk of lipoma recurrence, before surgery. The decision on the mode of surgery relies upon the disease extent, the patient's expectations and the surgeon's experience. [ABSTRACT FROM PUBLISHER]

The multiple symmetrical lipomatosis is an unfrequent sickness of undefined ethiology characterized by multiples deposits symmetrical of fat tissues next to arms and thishs. It is frequently associated to alcoholism and polineuropathia. [ABSTRACT FROM AUTHOR]

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.

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., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)

The article presents a case study of a 71-year-old man presented with laryngeal involvement of madelung disease who was treated by surgery. It states that the patient had diffuse generalized enlargement of the neck and shoulder without palpable masses. It states that both the approaches including transoral and transcervical were used for removal of laryngeal lipoma.