Madelung Disease Epidemiology and Clinical Characteristics: a Systemic Review.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. LEVEL OF EVIDENCE IV: 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 .

Intraneural lipomas: institutional and literature review.

BACKGROUND: Adipose lesions of nerve can be envisioned as a spectrum ranging from intraneural/extraneural lipomas to lipomatosis of nerve (LN). We have noticed that intraneural lipomas are not as a homogenous group as previously thought and demonstrate differences which have clinical implications. To better understand intraneural lipomas, we conducted a search of cases at our institution and published cases in the world's literature. MATERIALS AND METHODS: Mayo Clinic's database was searched between years 1994-2018. Published cases were identified using PubMed and Google Scholar databases. Following terms were used: intraneural lipoma, lipoma and nerve, lipoma and neuropathy, lipofibroma and nerve, fibrolipoma and nerve and neural lipoma as well as lipofibroma and fibrolipoma alone. Cases that could be clearly identified as intraneural lipomas by the location of the lipoma within the epineurium were included for analysis. These cases were then sub-classified as encapsulated intraneural lipomas or hybrid intraneural lipomas (demonstrating features of both intraneural/extraneural lipomas and LN) based on their characteristics. RESULTS: We identified 12 cases at our institution (8 encapsulated, 4 hybrid) and 24 published cases (21 encapsulated, 3 hybrid). The most commonly affected nerve was median both at our institution and in the published cases. Encapsulated cases were found to be relatively easy to resect. Hybrid cases demonstrated variable degree of interdigitating fat between the fascicles and were relatively difficult to resect. CONCLUSION: Intraneural lipomas exist as two separate entities with distinct clinical implications. Although rare, this should be taken in account when planning surgery. Terminology should be clarified to prevent ambiguity and confusion.

Madelung's Disease: Is Insobriety the Chief Cause?

BACKGROUND: Madelung's disease (MD) is a rare disease of unknown etiology that is characterized by massive fatty deposits distributed in a symmetrical pattern mainly in the head, neck, and upper trunk. Here, we sought to explore the pathogeny and treatment of MD. METHODS: We enrolled ten patients who underwent surgical operations and one patient who refused an operation at our hospital between January 2009 and December 2016. We collected their medical histories and the preoperative and postoperative serological indices. The serum chemistry clinical outcomes were compared between the preoperative and postoperative states. RESULTS: The mean alcohol intake of the eleven patients exceeded 450 g daily. Ten patients underwent open excisions, and the other patient refused an operation. No significant differences were observed between the preoperative and postoperative serum chemistry results. No recurrence has yet been observed in any of the ten operated patients. CONCLUSIONS: All of the patients in our study had associated alcoholism. Thus, insobriety might be one of the causes of MD. We believe that open operations may be an effective treatment based on the outcomes of the surgeries. LEVEL OF EVIDENCE IV: 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 .

Syndromic lipomatosis of the head and neck: a review of the literature.

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 www.springer.com/00266 .

Madelung's disease: comorbidities, fatty mass distribution, and response to treatment of 22 patients.

BACKGROUND: Madelung's disease (MD) is an uncommon pathology characterized by the presence of multiple masses of unencapsulated adipose tissue that is symmetrically distributed. The aim of this study was to investigate clinical and epidemiological features of patients diagnosed with MD in our department. Associated diseases and evolution after treatment were also investigated. METHODS: We reviewed the clinical histories of 22 patients diagnosed with MD from 1990 to 2010 and obtained their epidemiological and clinical characteristics. RESULTS: We found 21 patients with MD type 1 and one patient with MD type 2 according to Enzi's classification. All patients were male, 95.5% with high alcohol intake, and 59.1% with some hepatic disease. No family antecedents were significant; 40.9% had dyslipidemia, 22.7% arterial hypertension, 22.7% chronic obstructive pulmonary disease (COPD), 13.6% hyperuricemia, 9.1% hypothyroidism, 4.5% diabetes mellitus type 2, and 4.5% carbohydrate intolerance; 40.9% had a body mass index>30, and 27.3% presented gynecomastia/lipomastia. The region most frequently affected by fatty deposits was the neck. CONCLUSIONS: Madelung's disease affects mainly alcoholic males in their fourth decade of life. Hepatic diseases appear in most patients. Also associated with MD are high lipid blood levels, arterial hypertension, COPD, hyperuricemia, and obesity. MD type 1 is the most frequent phenotype and the neck the most common location for fatty masses. Recurrence after surgery, in the same location or different locations, is a frequent event, even in patients who later abstain from alcohol intake. LEVEL OF EVIDENCE IV: 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 at www.springer.com/00266 .

Multiple symmetric lipomatosis: Korean experience.

BACKGROUND: Multiple symmetric lipomatosis (MSL) is a rare disorder that is characterized by abnormal adipose tissue growth mainly at the neck, abdominal wall, back, shoulder girdle, and arms. A suggested mechanism for accumulation of adipose tissue is a defect in the lipolytic pathway of fat cell. OBJECTIVE: To evaluate the clinical, morphologic, and biochemical findings in Korean patients. METHOD: A total of 32 patients with MSL were evaluated retrospectively. Ten patients were seen at our hospital. The remaining 22 patients from literature were reviewed. Biochemical analyses and neurologic studies were performed. RESULTS: All cases were a sporadic form of MSL. The age of onset ranged from 26 to 70 years (mean of 49.4 years). The male-to-female ratio was 31:1. All but two patients were alcoholics with a daily intake of more than 80 g of alcohol for at least 10 years. In metabolic studies of 17 patients, a Fredrickson type IIb or IV hyperlipoproteinemia was found in three patients. High-density lipoprotein cholesterol values were higher in three patients. A glucose tolerance test was abnormal in five patients. A high prevalence of neurologic abnormalities was observed. Clinical signs of peripheral neuropathy were present in 11 of 13 patients. Central nervous system involvement was found clinically in 3 of 13 patients. CONCLUSION: The surgical removal of the fatty tissue and abstinence from alcohol are essential for relieving the patients from functional impairment. Not only metabolic studies of lipid abnormalities but also a complete neurologic examination were required in order to improve the quality of life in MSL patients.

Doença de Madelung: relato de casos e revisão da literatura / Madelung's disease: cases' report and review of literature

A doença de Madelung caracteriza-se pelo ac£mulo simétrico de massas de tecido lipomatoso, näo-encapsulado, na regiäo cervical e tronco superior (tipo I; mais comum) ou de forma difusa, como uma simples obesidade (tipo II). Constitui uma entidade benigna rara, de etiologia desconhecida, porém com uma clara associaçäo com o abuso de álcool. É mais freqüente em homens de meia idade e descendentes de italianos. Os autores apresentam 3 casos de Lipomatose Simétrica M£ltipla, classificados como tipo I, que referiam deformidade estética e diminuiçäo da mobilidade cervical, sem queixas de compressäo do trato aerodigestivo. Os pacientes foram tratados cirurgicamente, com bom resultado estético e sem complicaçöes perioperat¢rias, comprovando a eficácia da abordagem cir£rgica. Também fazem uma revisäo da literatura

Sporadic multiple lipomatosis: a case report and review of the literature.

The finding of multiple lipomas, or lipomatosis, can be a marker for several clinical or familial syndromes. Familial multiple lipomatosis is a benign hereditary disorder of adipose regulation associated with hyperlipidemia. Multiple symmetric lipomatosis involves the local infiltration of adipose tissue of the neck, upper torso and mediastinum. This condition is often found in alcoholics and has been associated with diabetes mellitus. An afflicted patient's family history is important both to reveal occult pathology and to help determine the disease's prevalence in the population. In this article, we report the case of a patient with sporadic multiple lipomatosis and provide a brief review of the literature.

Multiple symmetrical lipomatosis in the neck.

Multiple symmetrical lipomatosis (Madelung's disease) is a very rare condition that is commonest in countries bordering the Mediterranean. The disease is associated with symmetrical unencapsulated fat deposits over the neck and upper trunk. We present the first reported occurrence in the Chinese. Although lesions can initially mimic a head and neck malignancy, management is essentially symptomatic, with conservative removals done as indicated clinically or for cosmesis.