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1.
Folia Med (Plovdiv) ; 66(4): 583-586, 2024 Aug 31.
Artículo en Inglés | MEDLINE | ID: mdl-39257262

RESUMEN

Multiple symmetric lipomatosis (MLS), also known as Launois-Bensaude syndrome or Madelung disease, is a rare metabolic condition characterized by generally symmetrical, non-encapsulated fat accumulations in the patient's body.


Asunto(s)
Lipomatosis Simétrica Múltiple , Accidente Cerebrovascular , Humanos , Lipomatosis Simétrica Múltiple/complicaciones , Accidente Cerebrovascular/etiología , Masculino , Persona de Mediana Edad , Imagen por Resonancia Magnética
2.
Orphanet J Rare Dis ; 19(1): 302, 2024 Aug 17.
Artículo en Inglés | MEDLINE | ID: mdl-39154182

RESUMEN

BACKGROUND: Madelung's disease (MD), alternatively referred to as benign symmetric lipomatosis, multiple symmetric lipomatosis, or Launois-Bensaude syndrome, is an uncommon benign disorder marked by symmetric proliferation of adipose tissue in the head, neck, and torso regions. CASE DESCRIPTION: In this case, the patient was a female with the late middle-aged demographic, diagnosed with Type I MD. Notably, she exhibited no prior history of alcohol consumption, and there was no family history of MD. Subsequent to the clinical diagnosis, the patient underwent medical imaging assessments to delineate the surgical parameters. Post-surgery, she demonstrated a favorable recovery trajectory, marked by the absence of any surgical complications. RESULT: The patient underwent successful surgical excision of the lipomatous mass. Postoperatively, she had an uneventful recovery with no complications and no recurrence observed during the follow-up period of seven months. CONCLUSION: Timely diagnosis and early surgical intervention play a pivotal role in enhancing the quality of life for individuals with MD. Preoperative medical imaging examinations function as highly effective tools, contributing to heightened surgical safety and a decreased probability of encountering complications during the surgical procedure.


Asunto(s)
Lipomatosis Simétrica Múltiple , Humanos , Femenino , Lipomatosis Simétrica Múltiple/cirugía , Lipomatosis Simétrica Múltiple/diagnóstico , Lipomatosis Simétrica Múltiple/patología , Persona de Mediana Edad
3.
Eur Rev Med Pharmacol Sci ; 28(13): 3905-3911, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39012230

RESUMEN

BACKGROUND: Madelung's disease is a rare disorder characterized by massive deposits of excess subcutaneous fat around the neck, shoulders, arms, and other parts of the body. It has a high prevalence among middle-aged alcoholic men in Mediterranean countries and a low incidence in Asian populations. Although patients with Madelung's disease are often associated with a variety of alcohol-induced metabolic disorders, the comorbidity of alcoholic cardiomyopathy is rarely reported, probably because of its low incidence or neglect by clinicians. CASE REPORT: A 67-year-old man with a 10-year history of soft fat masses in the neck developed chest tightness and shortness of breath on exertion for the past 2 years. Laboratory tests revealed elevated γ-glutamyl transferase, glucose intolerance, hyperuricemia, hyperlipidemia, and anemia. Computed tomography of the neck showed symmetric nonencapsulated fat deposits, mainly in the anterior cervical regions. Echocardiography showed left heart enlargement and severe global left ventricular systolic dysfunction with an ejection fraction of 31%. Coronary angiography revealed 40-50% stenoses of the left anterior descending and right coronary arteries. After the exclusion of other causes of dilated cardiomyopathy, the patient was finally diagnosed with type I Madelung's disease and alcoholic cardiomyopathy. He underwent lifestyle changes, including reducing his alcohol intake, and received full pharmacological treatment for heart failure. One and a half years later, his cardiac function was partially restored, and all metabolic abnormalities improved except for elevated liver enzymes. CONCLUSIONS: Alcohol use disorder should be assessed in patients with newly diagnosed Madelung's disease. Screening for alcoholic cardiomyopathy in alcoholic patients with Madelung's disease is necessary for early detection of cardiac abnormalities and intervention to improve the prognosis of this group of patients.


Asunto(s)
Cardiomiopatía Alcohólica , Lipomatosis Simétrica Múltiple , Anciano , Humanos , Masculino , Cardiomiopatía Alcohólica/diagnóstico , Pueblos del Este de Asia , Lipomatosis Simétrica Múltiple/diagnóstico
4.
Ann Endocrinol (Paris) ; 85(3): 231-247, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38871514

RESUMEN

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.


Asunto(s)
Lipoma , Lipomatosis , Humanos , Lipomatosis/patología , Lipoma/patología , Lipoma/genética , Lipomatosis Simétrica Múltiple/patología , Lipomatosis Simétrica Múltiple/diagnóstico , Lipodistrofia/patología , Lipodistrofia/genética , Tejido Adiposo/patología , Adiposis Dolorosa/patología , Adiposis Dolorosa/diagnóstico
6.
Am J Case Rep ; 25: e943803, 2024 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-38685699

RESUMEN

BACKGROUND Benign symmetric lipomatosis (BSL), also known as Madelung's disease, is a rare disease generally characterized by fat deposits painlessly and symmetrically distributed in the body. In former studies, the incidence of BSL is highest in male patients and more frequent in the Mediterranean area. Asian females seem to be rarely affected. BSL often occurs in the neck or upper-back of patients, and is related to various metabolic disorders. Unusual clinical appearances may add difficulties in diagnosis. CASE REPORT In this report, we present a case of BSL in a 33-year-old woman's perineal region, with no clear BSL risk factors (sex, medical history, sites, and comorbidities), which increased the difficulties in diagnosis. The patient's quality of life was seriously affected by the continuous growth of fat tissue. Based on MRI and B-ultrasonic examinations, she underwent excision at our outpatient facility. Combined with the patient's clinical appearance, imaging results, and pathological tests, we could finally determine the diagnosis of BSL. After 18 months of follow-up, this patient recovered well with no recurrence. CONCLUSIONS Difficulties in diagnosis can seriously affect doctors' treatment approaches. BSL rarely occurs in the lower body, and our patient showed no clear risk factors. Therefore, imaging and pathological examinations can be essential tools for dermatological and plastic surgeons to diagnose and treat rare BSL.


Asunto(s)
Lipomatosis Simétrica Múltiple , Perineo , Humanos , Femenino , Adulto , Lipomatosis Simétrica Múltiple/diagnóstico , Imagen por Resonancia Magnética
7.
A A Pract ; 18(4): e01779, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38578005

RESUMEN

Madelung's disease is characterized by the presence of multiple symmetric and nonencapsulated facial, neck, and upper trunk lipomas. Depending on the location and size of lipomas, there may be concerns for difficult airway management and cardiovascular collapse. We present the anesthetic management case of a patient with cervical and mediastinal lipomas who underwent elective cervical lipoma resection.


Asunto(s)
Anestésicos , Lipoma , Lipomatosis Simétrica Múltiple , Neoplasias del Mediastino , Humanos , Lipomatosis Simétrica Múltiple/cirugía , Lipoma/cirugía , Cuello/cirugía
12.
Am J Case Rep ; 24: e941751, 2023 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-38039195

RESUMEN

BACKGROUND Multiple symmetric lipomatosis (MSL), also known as Launois-Bensaude syndrome, is a rare syndrome that is frequently misinterpreted as simple obesity. It has seldom been reported. Both conditions can coexist; however, unlike common obesity, in which total body fat is well distributed, patients affected by MSL present with symmetrical, painless fat masses that predominantly appear in the face, neck, occipital region and supraclavicular fossa. Launois-Bensaude syndrome's etiology is still poorly understood but an association with alcohol use has been documented. CASE REPORT A 49-year-old woman was referred to our department due to class II obesity (body mass index of 39.8 kg/m²). She had a history of arterial hypertension and daily wine consumption (2 glasses on average). She complained of weight gain after menopause and she reported having tried multiple times to lose weight by herself without success. On physical examination, the patient had an unusual pattern of fat distribution: exuberant symmetrical fat masses that were localized in her arms and thighs and spared her face, neck, forearms, and lower legs. She claimed that these masses had a rapid onset and then stabilized. The clinical history and the patient's phenotype were compatible with a non-classic type of Launois-Bensaude syndrome. CONCLUSIONS We concluded that our patient's condition encompasses more than just simple obesity; it involved a distinct form of adiposopathy that led to a completely different clinical approach. A detailed physical examination seems to be key for clinical suspicion of this rare syndrome, which can be a true pitfall in obesity evaluation.


Asunto(s)
Lipomatosis Simétrica Múltiple , Obesidad Mórbida , Femenino , Humanos , Persona de Mediana Edad , Lipomatosis Simétrica Múltiple/diagnóstico , Lipomatosis Simétrica Múltiple/complicaciones , Obesidad/complicaciones , Cuello , Síndrome , Obesidad Mórbida/complicaciones
15.
Mol Immunol ; 157: 195-201, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37060787

RESUMEN

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.


Asunto(s)
Lipectomía , Lipomatosis Simétrica Múltiple , Humanos , Lipomatosis Simétrica Múltiple/genética , Lipomatosis Simétrica Múltiple/diagnóstico , Lipomatosis Simétrica Múltiple/patología , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Cuello/patología , Cuello/cirugía , Lipectomía/métodos , Tejido Adiposo
17.
Neuroradiol J ; 36(2): 241-244, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36134606

RESUMEN

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.


Asunto(s)
Lipomatosis Simétrica Múltiple , Enfermedades de la Columna Vertebral , Humanos , Lipomatosis Simétrica Múltiple/diagnóstico por imagen , Lipomatosis Simétrica Múltiple/complicaciones , Lipomatosis Simétrica Múltiple/patología , Vértebras Cervicales/diagnóstico por imagen , Vértebras Cervicales/patología , Imagen por Resonancia Magnética/efectos adversos , Hematoma
18.
Pol Przegl Chir ; 96(0): 130-134, 2023 Oct 13.
Artículo en Inglés | MEDLINE | ID: mdl-38348992

RESUMEN

<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>.


Asunto(s)
Lipoma , Lipomatosis Simétrica Múltiple , Humanos , Masculino , Lipomatosis Simétrica Múltiple/diagnóstico , Lipomatosis Simétrica Múltiple/cirugía , Lipomatosis Simétrica Múltiple/patología , Lipoma/diagnóstico , Lipoma/diagnóstico por imagen
19.
Neurol India ; 70(5): 2166-2168, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36352631

RESUMEN

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.


Asunto(s)
Accidente Cerebrovascular Isquémico , Lipomatosis Simétrica Múltiple , Lipomatosis , Masculino , Humanos , Anciano , Lipomatosis Simétrica Múltiple/complicaciones , Lipomatosis Simétrica Múltiple/diagnóstico , Calidad de Vida , Tejido Adiposo/patología , Lipomatosis/complicaciones , Lipomatosis/patología
20.
Artículo en Chino | MEDLINE | ID: mdl-36347584

RESUMEN

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.


Asunto(s)
Obstrucción de las Vías Aéreas , Neoplasias Laríngeas , Lipomatosis Simétrica Múltiple , Humanos , Lipomatosis Simétrica Múltiple/diagnóstico , Lipomatosis Simétrica Múltiple/patología , Lipomatosis Simétrica Múltiple/cirugía , Neoplasias Laríngeas/cirugía , Laringoscopía , Obstrucción de las Vías Aéreas/etiología , Disnea/etiología
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