Madelung's Disease Research Articles

A case of Madelung disease in the tongue

Madelung disease is a benign nontumorigenic disease characterized by multiple and symmetrical unencapsulated adipose tissue deposits on the neck, shoulders and upper extremities. Simultaneous systemic and oral expressions are very rare. We report a case of Madelung disease arising from tongue.

3D planning and patient-specific surgical guides in forearm osteotomy in children: Radiographic accuracy and clinical morbidity

IntroductionThree-dimensional (3D) planning and patient-specific surgical guides are increasingly used in the treatment of skeletal deformities. The present study hypothesis was that they are reliable in forearm osteotomy in children, with low morbidity. Material and methodsTwenty-there children with one or several osteotomies to correct forearm deformities were retrospectively included: 9 (20 osteotomies) with surgical guide (G+), and 14 (28 osteotomies) without (G-). Etiologies comprised 8 cases of Madelung disease (3G+, 5G−) and 15 of post-traumatic malunion (6G+, 9G−). Mean age at surgery was 14.8±1.9 years. The patient-specific 3D-printed polyamide guides were produced from 3D virtual models based on 3D CT reconstruction. Mean follow-up was 22.1±13.6 months. ResultsMean correction error was 5.3°±4.1 and 4.2°±4.1 in the frontal and sagittal planes respectively in G+ (p=0.6). Surgery time was significantly shorter in G+, by a mean 42min (p=0.02). Mean total radiation dose (preoperative CT+intraoperative fluoroscopy) was significantly higher in G+ (p<0.0001). Complications rates were similar between groups. Improvement in PRWE score was significantly greater in G+. ConclusionThe present preliminary results were encouraging. 3D planning and patient-specific surgical guides can be used in the treatment of forearm deformity in children. Level of evidenceIII; retrospective cohort study.

The Oleaginous Conglomerate- Multiple Symmetric Lipomatosis

Multiple symmetric lipomatosis (MSL) is an exceptional disorder of adipose tissue metabolism and lipid storage. The condition was initially scripted by Sir Benjamin Brodie in 1846 and is additionally designated as Made lung’s disease, Launois-Bensaude syndrome or benign symmetric lipomatosis (1). Characteristically, multiple symmetric lipomatosis displays multiple foci of accumulated, non-encapsulated, mature adipose tissue with predominant infiltration within subcutaneous tissue of cephalic, cervical and upper thoracic region. Multiple, non-encapsulated, symmetrically distributed lipomas which spare distal extremities are enunciated in multiple symmetric lipomatosis (1,2). The condition can be misinterpreted as simple obesity on account of identical clinical features and symptoms. Therefore, antecedent evaluation of pertinent manifestations and differentiation of dual entities is necessitated. The disease is presumed to be a condition diverse from accumulation of brown adipose tissue. Histological structure of constituent adipose tissue cells is dystrophic with characteristics akin to lipoma and liposarcoma. The condition may be associated with significant morbidity, metabolic disturbances, neuropathy, malignant metamorphosis and sudden death (1,2).

Madelung Disease – Our Clinical Considerations and Management

Toader Corneliu1, Stroi Marian1, Sinelli Joanna I1 and Boghi David M*2 Author Affiliations 1National Institute for Neurology and Neuro-vascular diseases, Bucharest, Romania 2”Saint Pantelimon” Clinical Hospital, Bucharest, Romania Received: January 19, 2021 | Published: January 26, 2021 Corresponding author: Boghi David Matteo, ”Saint Pantelimon” Clinical Hospital, Bucharest, Romania DOI: 10.26717/BJSTR.2021.33.005397

Madelung Disease Epidemiology and Clinical Characteristics: a Systemic Review.

Madelung disease is a rare lipid metabolic disorder, and most cases are sporadically reported. There are currently no systematic reviews summarizing the epidemiological and clinical characteristics of this disease. The purpose of the current article is to extract and analyze the existing evidence concerning Madelung disease derived from case series in order to provide adequate treatments for patients based on a more comprehensive understanding of the disease. PubMed, Embase, and Web of Science databases were queried for relevant articles using the search terms "Madelung disease," "multiple symmetric lipomatosis," "Launois-Bensaude syndrome" and synonyms until Aug 31,2020. Data statistics of Madelung disease epidemiology and clinical characteristics are summarized in different tables or charts with Microsoft Office software. Patients exhibiting Madelung disease were mostly located in Europe, although some records existed in Asia as well. Average patient age was between 45 and 65 years old. Type I was the most common form of the disease, and the neck was the most common location for tumors. Madelung disease is associated with various metabolic disorders, and hematoma and seroma were the most common complications. Overall recurrence rate was 18.3%, with similar recurrence rates after lipectomy and liposuction. Fewer complications occurred after liposuction compared with lipectomy, but relapse was more common after liposuction. Madelung disease consists of specific epidemiological and clinical characteristics, knowledge of which can be helpful for diagnosis and cognition. Lipectomy and liposuction are considered to be the most effective treatment methods for Madelung disease; however, choice of surgery should be based on comprehensive consideration of the disease, such as severity, mass location, and patient expectations. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

A rare case of Madelung's disease in Asian female

A rare case of Madelung's disease in Asian female

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

Madelung Disease (MD) is a syndrome characterized by the accumulation of aberrant symmetric adipose tissue deposits. The etiology of this disease is yet to be elucidated, even though the presence of comorbidities, either genetic or environmental, has been reported. For this reason, establishing an in vitro model for MD is considered crucial to get insights into its physiopathology. We previously established a protocol for isolation and culture of stem cells from diseased tissues. Therefore, we isolated human adipose-derived stem cells (ASC) from MD patients and compared these cells with those isolated from healthy subjects in terms of surface phenotype, growth kinetic, adipogenic differentiation potential, and molecular alterations. Moreover, we evaluated the ability of the MD-ASC secretome to affect healthy ASC. The results reported a difference in the growth kinetic and surface markers of MD-ASC compared to healthy ASC but not in adipogenic differentiation. The most commonly described mitochondrial mutations were not observed. Still, MD-ASC secretome was able to shift the healthy ASC phenotype to an MD phenotype. This work provides evidence of the possibility of exploiting a patient-based in vitro model for better understanding MD pathophysiology, possibly favoring the development of novel target therapies.

P.620 Madelung's disease - lipomas associated with alcoholism

P.620 Madelung's disease - lipomas associated with alcoholism

Madelung Disease Treated With Deoxycholic Acid.

Rodriguez, Marla BS*,†; Beal, Brandon T. MD*; Khetarpal, Shilpi MD*; Vidimos, Allison MD*Author Information

Benign skin tumors arising from the adipose and muscle tissue

Benign skin tumors arising from the adipose tissue (Derkums disease, Madelungs disease, symmetrical lipomatosis) and the muscle tissue (leiomyoma) are rarely seen at a dermatological appointment, which creates diagnostic difficulties for practicing dermatologists. To improve diagnostic performance, the authors provide brief clinical descriptions and original images of these tumors.

Reply to Madelung Disease Type Ia: Lipectomy or Liposuction?

Reply to Madelung Disease Type Ia: Lipectomy or Liposuction?

SUN-598 Phenotypic Study of Meso-Somatous (Roch-Leri) Lipomatosis

Background: Lipomatosis is a condition in which multiple lipomas are present on the body. Different entities which are accompanied by multiple lipomas include Proteus syndrome, Cowden syndrome and related disorders due to PTEN gene mutations, MEN1, benign symmetric lipomatosis (Madelung or Launois-Bensaude disease), Dercum’s Disease, familial lipodystrophy, hibernomas, epidural lipomatosis, familial angiolipomatosis, and meso-somatous lipomatosis (LMS) still called Roch-Leri lipomatosis. LMS is characterized by the presence of many discrete, encapsulated lipomas of 2 to 5 cm, painless, at the level of the trunk and forearms. The aim of the present study was to determine the clinico-biological phenotype of LMS, as compared to controls. Patients and methods: In this single-center study (NCT01784289), 18 healthy controls (C) and 11 LMS were included after examining the cohort of 76 patients referred for suspected lipodystrophic syndrome between 2009 and 2019 in the Endocrinology Department of a University Hospital. Clinical (sex, age, weight, BMI, blood pressure (BP), alcohol consumption), metabolic (fasting blood glucose (FBG) and insulin levels, lipid balance, ASAT, ALAT, GammaGT, leptin), immuno-inflammatory (CBC, lymphocyte immunophenotyping), and anthropometric (% of body fat in DEXA, steatosis and intra-abdominal / total abdominal fat ratio (IAF / TAF) in MRI) were evaluated. Results: The following parameters, expressed as % or median, differed significantly between LMS vs. C groups, respectively: weight 100 vs. 69kg (p<0.01), BMI 30.8 vs. 22.7 (p<0.01), systolic BP 140 vs. 115 (p<0.01) and diastolic BP 80 vs. 70 mmHg (p<0.05), gammaGT 74 vs. 18 IU / L (p<0.01), fasting insulin levels 7.3 vs. 4.7 microIU / mL (p<0.05), leptin 28 vs. 5 ng / mL (p<0.01), CD3 (867 vs. 1444 / mm3 (p<0.01), CD4 499 vs 866 / mm3 (p<0.05), CD8 227 vs. 546 (p<0.05), fat mass 41 vs. 22 (p<0.05). Three LMS patients had hepatic steatosis and 3 a first-degree family member with LMS. Percentage of men (63% vs. 52%, FBG, lipid levels, ASAT, ALT, CBC, IAF / TAF (0.25 vs 0.19) did not differ significantly. The number of lipomas was > 5 in 82% of LMS patients and lipomas were localized first to the forearms (82%), then the thighs (73%) and the abdomen (55%). At diagnosis, the age of LMS patients was 20 years old; 55% of the LMS patients had a BMI above 30 and 45% above 25. No patient had excessive alcohol consumption. Five had a history of auto-immuneor inflammatory disease: 1 hyperthyroidism, 1 hypothyroidism, 1 multiple sclerosis, 1 vitiligo, 1 Raynaud syndrome. Conclusion: LMS mainly affects overweight men and is associated with hypertension, hyperinsulinism, increased gammaGT and a decrease in CD3, CD4 and CD8 lymphocytes, suggesting an immune dysregulation, all the more so that 45% had an associated auto-immune/inflammatory disease.

Madelung's disease

Madelung's disease

Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat

IntroductionMultiple symmetric lipomatosis (MSL) (syn.: Launois–Bensaude Syndrome, benign symmetric lipomatosis) is a rare disease of fatty tissue. The pathophysiology of MSL still remains unclear, although several approaches have been described in order to understand it. Beside morphological characteristics and some molecular cell biological approaches, little is known about the histological and immunohistochemical characterization of adipose tissue from patients with MSL.MethodsFrom the 45 patients with MSL in our database, 10 were included in the study. Fat tissue samples were collected from affected and unaffected areas. The forearm served as a control area as this area is not affected in MSL. The specimens were analyzed after selected stainings were taken (hematoxylin–eosin = HE, Elastica van Gieson, Ladewig, CD200, CIDEA, myf5, p107, Prdm16, Sca-1, syndecan, UCP1, MAC387, Glut4).ResultsIn patients suffering from MSL, no macroscopic or microscopic morphological difference could be found between affected and unaffected adipose tissue in HE stainings. The majority of samples showed positivity for UCP1 (9/10 clinically affected tissues, 7/10 clinically unaffected tissues) and CD200.ConclusionMarker profiles support the hypothesis that affected adipose tissue derives from brown or beige adipose tissue rather than from white fat.Level of Evidence IVThis journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.

Anesthetic Management of a Patient with Benign Symmetrical Lipomatosis: A Case Report

A 59-year-old man with Benign Symmetrical Lipomatosis (BSL) who underwent the neck and chest lipomas resection under general anesthesia is described. Benign Symmetrical Lipomatosis (BSL) is a rare fat metabolism disorder characterized by the most common symptom of nonencapsulated axial lipomas symmetrically diffused around the neck. The airway was secured by video laryngoscopy intubation in this case. Sober local anesthesia or topical anesthesia may provide a simple and safe available method to retain spontaneous breathing for patients with BSL under general anesthesia.

Three cases of benign symmetric lipomatosis of the neck

Three cases of benign symmetric lipomatosis of the neck

Review of Atypical Lipoma and its Natural Treatment

Atypical lipomatous are rare tumors that typically arise out of soft tissues in the body and common in adults. Most lipomas comprise of mature fat cells that exhibit characteristic of benign tumor by nature. They are round, motile, non-painful slow growing masses, with a characteristic soft and soggy feel, usually appear in the hypodermic area of skin. Atypical lipomas, though uncommon and slow growing can be associated with syndromes such as multiple hereditary lipomatosis, colorless adipose, Gardner's syndrome and Madelung's disease. While surgery has been the primary treatment modality, doctors have managed few patients with radiation therapy (RT). Median age of diagnosis was found in the range: 36–76 years but intramuscular lipomas may occur irrespective of age group, right from childhood to old age. However, the occurrence dominancy was found between the ages of 42 and 72 years, with the average age at presentation reported as 47 to 57 years.

Benign Symmetrical Lipomatosis (Bsl) Of The Head And Neck: Clinical Case Presentation

Benign symmetrical lipomatosis (BSL) is a rare pathological finding with an alcohol connection. It predominantly affects males in the age between 30 and 60-year-old. Once developed, the disease does not undergo regression. The fatty accumulations have constant and progressive overgrowth that may significantly affect breathing, eating and speech. The most effective method for treatment is the surgical removal of the tumor masses. In the following we present a clinical case report of a 44-year-old male with BSL.

Madelung's disease – a case report

Introduction: Madelung’s disease is a rare illness manifested by the uncontrollable proliferation of unencapsulated adipose tissue which accumulates symmetrically in the hypodermis in the area of the neck, shoulders, back and thighs. As part of differential diagnosis it is necessary to investigate tumours in the area of the neck, dysfunction of the thyroid gland, Cushing’s syndrome and rare lipomatosis. Case report: In the case report, the authors present the case of a 52-year-old male patient with a large formation on the neck, trunk and the scrotal area. A suspicion of liposarcoma was expressed based on the imaging examinations performed. Results: Excisions of tumorous loci on several occasions were indicated for the patient. Lipomas without abnormalities were proven in all histological examinations. Conclusion: The diagnosis of Madelung’s disease is based on the clinical findings, imaging (computed tomography − CT, magnetic resonance imaging − MRI) and biopsy examination. Laboratory methods tend to focus rather on associated internal diseases. Treatment is only symptomatic and consists in surgical removal of the foci. However, it is often associated with the risk of recurrence.

Madelung's disease

Madelung's disease