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.

Madelung's Disease Evolving to Liposarcoma: An Uncommon Encounter.

(1) Background: Madelung's disease-known also as Benign Symmetric Adenolipomatosis (BSA) or Multiple Symmetric Lipomatosis (MSL), is a rare subcutaneous tissue disease characterized by the proliferation of non-encapsulated fat tissue with mature adipocytes. Patients develop symmetrical fatty deposits of varying sizes, (located particularly around the neck, shoulders, upper and middle back, arms, abdomen, and thighs), having clinical, esthetic, and psychiatric repercussions. (2) Methods: We report a case diagnosed with BSA upon admission to the Neurological and Internal Medicine Departments of the Emergency Clinical Hospital of Galati. (3) Results: This patient developed compressive phenomena and liposarcoma with liver metastasis, followed by death shortly after hospital presentation. The histopathology examination confirmed right latero-cervical liposarcoma and round cell hepatic metastasis. The specific metabolic ethiopathogenic mechanism has not been elucidated, but the adipocytes of BSA are different from normal cells in proliferation, hormonal regulation, and mitochondrial activity; a rare mitochondrial gene mutation, together with other interacting genetic or non-genetic factors, have been considered in recent studies. A thorough literature search identified only three cases reporting malignant tumors in BSA patients. (4) Conclusions: The goal of our paper is to present this rare case in the oncogenic synergism of two tumors. In the management of this BSA disorder, possible malignant transformation should be considered, although only scarce evidence was found supporting this.

En bloc resection of a large bilateral vulvar lipoma through a caesarean scar: A case report.

Large bilateral symmetrical vulvar tumors are rare. A 30-year-old multiparous Asian woman presented with severe discomfort during urination and intercourse owing to a large bilateral symmetrical lipoma in the labia majora. En bloc resection through a pre-existing Caesarean scar achieved good cosmetic and symptomatic results. This alternative and unique approach may be helpful in similar rare cases.

A Case Report of Madelung's Disease.

Madelung's disease (MD) is a rare disease characterized by diffuse, nonencapsulated, multiple fat masses in different areas of the body. In this case report, we present a case of MD in Asia and its management. A 66-year-old man with a history of hypertension presented with massive growth of soft tissue around the neck, breasts, upper back, and lower abdomen. Preoperative magnetic resonance imaging revealed remarkably hypertrophic fat tissue around the neck and anterior chest was wall, which consistent with the diagnosis of MD. Multiple linear incisions were made on the neck and 763, 186, 635 g of posterior, right, and left fat tissues were excised, respectively. A single wide, transverse incision was done to excise 1,072 g of fat from the upper back. Masses of both breasts were excised, preserving the inferior pedicle, weighing 1,086 (right) and 1,164 g (left). The recovery was optimal and the patient was discharged without complications. In this case, we excised the adipose masses as much as possible and improved contour and symmetry. However, the fat infiltrations in the patient were diffusely distributed, making total fat excision difficult. This rare case report may help in managing patients with MD.

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.

Giant scrotal lipoma in Madelung's disease: A case report.

INTRODUCTION AND IMPORTANCE: Madelung disease is a rare condition of unknown etiology, characterized by large masses of subcutaneous fat in the upper body bilaterally. It rarely affects the lower extremities and genital region. CASE PRESENTATION: Here, we report a patient with Donhouser's type III Madelung's disease. A 47-year-old male patient presented with a giant fatty scrotal tumor that caused deformation of the scrotum and penis, made it difficult to perform daily activities, and hindered sexual activity. The adipose tumor was completely removed using a midline scrotal incision. The scrotum was reconstructed with bilateral anterior and posterior scrotal skin flaps. The excess skin was cut into a wedge shape between the anterior and posterior scrotal regions. CLINICAL DISCUSSION: At 3 months postoperatively, the scrotum was normal in shape and size, and the patient was able to perform personal activities and normal sexual activity. The surgical options, lipectomy results, and experiences drawn from the clinical cases have been discussed. CONCLUSION: Giant scrotal lipomas are very rare in Madelung's disease. Lipectomy and scrotal reconstruction are required. Wedge-shaped scrotal skin excision in the midsection on each side of the scrotum removes excess skin, which could restore the shape and function of the penis and scrotum.

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.

Exploration of Influencing Factors for Postoperative Recurrence in Patients with Madelung's Disease on the Basis of Multivariate Stepwise Cox Regression Analysis.

Purpose: Madelung's disease (MD) is a rare condition of massive deposits of fat accumulations between superficial and deep fascia at typical locations. There is an absence of systematic studies related to MD in the Chinese cohort. Thus, the objective of the study was to investigate the clinical features of the MD cases in our institution and to explore the clinical variables associated with postoperative recurrence. Materials and Methods: We retrospectively analyzed the clinical information of 21 individuals with MD from 2013 to 2021 enrolled in our institution. The paired t-test and χ 2 test were, respectively, used to determine the difference between continuous and classified variables. The univariate Kaplan-Meier analysis by log-rank and multivariate stepwise Cox regression analysis were used to explore variables possibly associated with postoperative recurrence in MD individuals. Results: In the current study, 90.48% of the studied patients were male with a mean age of 48.76 years old. About 61.90% exhibited type I MD. MD patients who experienced postoperative recurrence had a higher age, BMI, incidence of chronic complications, and prevalence of alcoholism than the other MD patients without recurrence (P < 0.05). The univariate Kaplan-Meier analysis by log-rank identified that age, BMI, alcoholism, and comorbidities were influencing factors related with postoperative recurrence (P < 0.05). Conclusion: Demographic characteristics of the 21 studied Chinese cases with MD were generally in accordance with previously published data of other foreign populations. The factors possibly influencing the postoperative recurrence for patients with MD were age, BMI, alcoholism, and a combination of comorbidities. This is the first time that a summarization of clinical characteristics and postoperative recurrence variables of Chinese patients with MD has been reported.

Prevertebral fat in Madelung disease mimicking cervical spine injury: A case report.

Madelung disease is defined by multiple symmetric fatty accumulations, usually involving the upper trunk, and may sometimes have excessive fat deposition in the prevertebral space. On magnetic resonance imaging (MRI), findings of fat that are hyperintense on T1w and T2w images, may simulate subacute hematoma and mimic cervical spine injury. This is the first reported case of Madelung disease with prevertebral fat deposition mimicking prevertebral hematoma found in cervical spine injury on MRI. Fat suppression techniques are helpful in order to differentiate between these two conditions, which should be taken into consideration during routine clinical practice.

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.

Madelung's Disease: Analysis of Clinical Characteristics, Fatty Mass Distribution, Comorbidities and Treatment of 54 Patients in China.

Purpose: Madelung's disease (MD) is a rare disease characterized by the deposition of unencapsulated fat masses on the face, neck, chest, back and other areas of patients. The aim of the study was to analyze the clinical characteristics, comorbidities and treatment of MD in Chinese populations. Patients and Methods: We retrospectively reviewed the medical records of 54 patients who were diagnosed with MD at the Affiliated Hospital of Qingdao University and Qingdao Municipal Hospital from January 2005 to February 2021 and collected the subjects' demographic information, clinical indicators, location of fat deposits, treatment, complications and prognostic data. Results: Among 54 MD patients in the study, only 1 (1.85%) was female, and the subjects had an average age of 56.65 ± 7.93 years. More than 70% of patients had a history of long-term smoking or/and alcohol abuse. In our study, type I accounted for approximately 61.11% of cases according to Donhauser's classification, and almost all patients had neck fat deposition. MD patients often have multiple comorbidities across several systems, such as the endocrine, digestive, circulatory, urinary, and neurological systems. Among these, endocrine system diseases were the most common comorbidities in our study, accounting for 81.48%. Notably, up to 20.37% of cases were complicated with cancer, especially digestive system tumors. More than 70% of the patients received surgical treatment, and nearly 40% experienced postoperative recurrence. Conclusion: Considering that MD patients often have comorbidities of multiple systems and that a small number of cases are even complicated by cancer, we recommend that clinicians comprehensively assess a patient's condition and complications, advocate that patients quit consuming alcohol and smoking as soon as possible, establish healthy dietary and living habits, and formulate individualized and comprehensive diagnosis and treatment plans.

Madelung's Disease as an Example of a Metabolic Disease Associated with Alcohol Abuse-Diagnostic Importance of Computed Tomography.

Madelung's disease is a rare metabolic disorder characterized by a symmetrical accumulation of nonencapsulated adipose tissue deposits, mainly around the head, neck and shoulders. Fat deposits can grow and put pressure on other organs causing a variety of symptoms, inter alia, dysphagia, breathing difficulties, neck stiffness and headache. Madelung's disease is often accompanied by other disorders such as diabetes, hypertension, hypothyroidism, or liver disease. In addition to somatic issues, mental health problems may also develop causing social exclusion and depression. Middle-aged men with a history of alcohol abuse are the most commonly affected. Various imaging techniques, including computed tomography (CT), are helpful in stating the diagnosis. This paper presents a case of a 33-year-old man with extensive adipose tissue overgrowth around neck and chest. CT-enhanced scans with multiplanar reconstruction (MPR) and volume rendering technique (VRT) reconstruction are also included.

Diagnostic and surgical challenges of progressive neck and upper back painless masses in Madelung's disease: A case report and review of literature.

BACKGROUND: Madelung's disease (MD) is a chronic alcoholism-associated metabolic syndrome characterized by symmetrical subcutaneous deposition of adipose tissue in the head, neck, shoulders, back, trunk, and nerve roots of the upper and lower limbs. It is relatively rare in Asian individuals and is prone to misdiagnosis. Herein, we report a case of a patient with MD who had undergone surgical management at our hospital, and we discuss the pathogenesis, diagnosis, and treatment of MD. CASE SUMMARY: We report a case of MD in a 65-year-old man of Han descent. The patient had multiple, painless progressive masses for more than five years in the neck and more than 30 years in the upper back. Because of neck mobility limitations and progressive cosmetic deformities caused by the masses, he was admitted to our hospital. He drank approximately 500 mL of liquor per day and smoked heavily for more than 30 years. Contrast-enhanced computed tomography of the neck and chest documented abundant unencapsulated, subcutaneous fatty deposits. We prepared a staged operation plan. The patient was diagnosed with MD; he was advised to abstain from alcohol and was followed up regularly. After a 3-month follow-up, no recurrence of fat accumulation was found in the surgical areas. CONCLUSION: This report presents a case of surgical treatment for MD to improve clinicians' understanding of the disease.

Bilateral symmetric lipomatosis of the orbit in Madelung's disease.

Madelung's disease is a rare benign systemic lipomatosis, which often presents in the head, neck and upper trunk regions. The appearance of symmetrical, excessive adipose tissue in the subcutaneous layer is its clinical characteristic. Orbital involvement is unusual with only a few cases reported previously. In this study, we describe the clinical and radiological features of Madelung's disease in the orbits. A 42-year-old man with alcohol addiction presented with chronic bilateral masses of the lower eyelids and proptosis. Computed tomography (CT) scan showed excessive symmetrical non-encapsulated fat deposition in the orbital fat, lower eyelids, salivary glands, subcutaneous tissue along the neck and under the sternocleidomastoid muscles and supraclavicular areas bilaterally. Histopathological study of the orbital masses revealed mature adipose tissue interspersed with thin fibrous septae. He developed recurrent lipomatosis 1 year after surgical excision.

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

INTRODUCTION: Three-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 METHODS: Twenty-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. RESULTS: Mean 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+. CONCLUSION: The 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 EVIDENCE: III; retrospective cohort study.

A case report of Madelung's disease in China.

Madelung disease (MD) is a rare form of lipodystrophy, which refers to diffuse and symmetrical adipose tissue deposition in the superficial and deep subcutaneous fascial spaces, presenting as multiple painless masses throughout the body. The disease is most commonly seen in middle-aged men who have been drinking alcohol for a long time and has not been reported domestically. This article analyzed the clinical data with Madelung's disease, discussed its etiology, clinical manifestations, diagnosis, and treatment methods, and provided help for clinical diagnosis and treatment.