Uma doença rara do tecido embaixo da pele, caracterizada pelo crescimento de massas de gordura simétricas e sem uma cápsula definida, principalmente no rosto e pescoço. Isso pode causar diferentes problemas de saúde, como dificuldade para mover o pescoço ou compressão (apertamento) das vias respiratórias.
Introdução
O que você precisa saber de cara
Uma doença rara do tecido embaixo da pele, caracterizada pelo crescimento de massas de gordura simétricas e sem uma cápsula definida, principalmente no rosto e pescoço. Isso pode causar diferentes problemas de saúde, como dificuldade para mover o pescoço ou compressão (apertamento) das vias respiratórias.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 12 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable.
Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:19889647, PubMed:26214738, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). Membrane clustering requires GTPase activity and may involve a major rearrangeme
Mitochondrion outer membrane
Charcot-Marie-Tooth disease, axonal, type 2A2B
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2A2B is a severe form with autosomal recessive inheritance.
Variantes genéticas (ClinVar)
408 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 4 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Lipomatose simétrica múltipla
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
34 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Madelung's disease involving the scrotum: a case report and diagnostic pitfalls with liposarcoma.
Madelung's disease is a rare metabolic disorder characterized by diffuse, symmetrical adipose tissue proliferation, strongly associated with chronic alcohol consumption. Scrotal involvement is exceedingly rare and can mimic malignancy. We report a 59-year-old man with a history of chronic alcohol intake who presented with progressive bilateral scrotal enlargement. Unlike previously reported cases of scrotal Madelung's disease, which typically demonstrate homogeneous and unencapsulated fat proliferation, MRI in this patient revealed atypical imaging features, including multiple internal fibrous septa and distinct nodular-like foci within fat-containing scrotal masses, raising suspicion of liposarcoma. Complete surgical excision was performed. Histopathology confirmed benign lipomatosis with CDK4(+), MDM2(+), Ki-67 (+,2%), and negative MDM2 amplification on fluorescence in situ hybridization (FISH), arguing against well-differentiated liposarcoma. The patient remained recurrence-free at 12-month follow-up. This case emphasizes the critical role of multimodal medical imaging, rigorous histopathological evaluation, and molecular testing in establishing an accurate diagnosis and guiding appropriate management, while highlighting that Madelung's disease may occasionally present with atypical imaging features, such as nodules and septa which closely mimic a malignant lesion.
Madelung Disease of the Scrotal Region: A Case Report.
Madelung disease is a rare disorder characterized by symmetrical fat accumulation, typically around the neck, shoulders, and trunk. A 56-year-old man presented for 10-month history of dysuria and painless swelling of the lower abdomen and scrotum. A large scrotal mass completely buried the penis, and cranially displaced both testes. Contrast-enhanced magnetic resonance imaging suggested a well differentiated liposarcoma but whole-body computed tomography revealed symmetrical fat accumulation in the upper body trunk, raising suspicion of Madelung disease. Biopsy of the mass confirmed a benign lipoma. Excision of a 664 g lipoma improved the patient's penile configuration, enabling him to urinate in a standing position. Madelung disease in the scrotal region is rare, only nine cases reported to date. However, it should be considered when bilateral symmetrical fat accumulation is present because a correct diagnosis has a decisive impact on treatment strategy.
Teaching NeuroImage: Multiple Symmetric Lipomatosis as a Manifestation of Mitochondrial Cytopathy.
Multiple symmetric lipomatosis as a marker of mitochondrial disease. Case report and review of the literature.
Correction: Madelung's disease -a case series from a single-center experience.
[This corrects the article DOI: 10.3389/fsurg.2025.1636822.].
Publicações recentes
Novel MFN2 compound heterozygote genotype in a patient with multiple symmetric lipomatosis and metabolic dysfunction.
Giant Cervicothoracic Madelung Disease Presenting with Airway Compromise: A Case Report from Ethiopia.
Madelung's disease involving the scrotum: a case report and diagnostic pitfalls with liposarcoma.
Madelung Disease of the Scrotal Region: A Case Report.
📚 EuropePMC132 artigos no totalmostrando 69
Madelung's disease involving the scrotum: a case report and diagnostic pitfalls with liposarcoma.
Frontiers in oncologyMadelung Disease of the Scrotal Region: A Case Report.
IJU case reportsMadelung's disease -a case series from a single-center experience.
Frontiers in surgeryTeaching NeuroImage: Multiple Symmetric Lipomatosis as a Manifestation of Mitochondrial Cytopathy.
NeurologyA real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.
Frontiers in endocrinologyBenign Symmetric Lipomatosis of the Tongue With Dysgeusia: A Case Report and Literature Review.
CureusLoss of Mfn1 but not Mfn2 enhances adipogenesis.
PloS oneResearch progress on the pathogenesis of multiple symmetrical lipomatosis.
AdipocyteCould Madelung disease be a cause of stroke? A rare case report.
Folia medicaA case report on Madelung's disease and comprehensive review of the literature.
Orphanet journal of rare diseasesMultiple symmetric lipomatosis as a marker of mitochondrial disease. Case report and review of the literature.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMadelung's Disease Evolving to Liposarcoma: An Uncommon Encounter.
Life (Basel, Switzerland)Multiple symmetrical lipomatosis: A literature review and case report of a patient with Madelung's disease.
Polski przeglad chirurgicznyShedding Light on Multiple Symmetric Lipomatosis: An Overlooked Syndrome in the Evaluation of Obesity.
The American journal of case reportsMultiple symmetric lipomatosis with chronic kidney disease and tophi.
Oxford medical case reportsMultiple Symmetric Lipomatosis: Lipectomy for Madelung Collar.
Plastic and aesthetic nursingIs There any Link between Madelung Disease and Ischemic Stroke? A Case Report.
Neurology IndiaMadelung's Disease: Analysis of Clinical Characteristics, Fatty Mass Distribution, Comorbidities and Treatment of 54 Patients in China.
Diabetes, metabolic syndrome and obesity : targets and therapyDiagnostic and surgical challenges of progressive neck and upper back painless masses in Madelung's disease: A case report and review of literature.
World journal of clinical casesKetogenic diet for mitochondrial disease: potential role in treating the Multiple Symmetric Lipomatosis phenotype associated with the common MT-TK genetic mutation.
Orphanet journal of rare diseasesTranscutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study.
MedicineInvited Response on: Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat.
Aesthetic plastic surgeryMultiple symmetric and multiple familial lipomatosis.
Presse medicale (Paris, France : 1983)Madelung's disease with alcoholic liver disease and acute kidney injury: A case report.
World journal of clinical casesAdipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown: Beige Fat.
Aesthetic plastic surgeryMultiple symmetric lipomatosis (Madelung's disease) with symptoms and signs of hypertension, lipodystrophy, and dyspnea: A case report and literature review.
Clinical case reportsMadelung's disease. Two case reports with pseudoathletic appearance.
La Clinica terapeuticaA non-alcohol-related case of Madelung's disease: Challenging patient with progressive jugular vein distension.
Radiology case reportsMadelung Disease Epidemiology and Clinical Characteristics: a Systemic Review.
Aesthetic plastic surgeryLoss of FZO1 gene results in changes of cell dynamics in fission yeast.
International journal of molecular medicineCbl Proto-Oncogene B (CBLB) c.197A>T Mutation Induces Mild Metabolic Dysfunction in Partial Type I Multiple Symmetric Lipomatosis (MSL).
Diabetes, metabolic syndrome and obesity : targets and therapyWhite Adipose Tissue Expansion in Multiple Symmetric Lipomatosis Is Associated with Upregulation of CK2, AKT and ERK1/2.
International journal of molecular sciencesLIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells.
European journal of endocrinologyA case report of Multiple Symmetric Lipomatosis (MSL) in an East Asian Female.
BMC women's healthEstablishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene.
Stem cell researchMultiple symmetric lipomatosis with secondary laryngeal obstruction: A case report.
MedicineMultiple symmetric lipomatosis of the male breast: An unusual mimic of gynecomastia.
Nigerian journal of clinical practiceSelf-initiated lifestyle interventions lead to potential insight into an effective, alternative, non-surgical therapy for mitochondrial disease associated multiple symmetric lipomatosis.
MitochondrionAdipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat.
Aesthetic plastic surgeryImaging spectrum of abnormal subcutaneous and visceral fat distribution.
Insights into imagingMitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.
Clinical geneticsMadelung's Disease Leading to Presenile Dementia in a Non-alcoholic Patient.
Medical archives (Sarajevo, Bosnia and Herzegovina)Genetic syndromes with localized subcutaneous fat tissue accumulation.
Acta bio-medica : Atenei ParmensisMultiple symmetric lipomatosis: A clinical marker of mitochondrial cytopathy.
Neurology IndiaCalcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis.
Scientific reportsMultiple Symmetric Lipomatosis in a Chronic Male Alcoholic.
Ear, nose, & throat journalMultiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant.
Journal of investigative medicine high impact case reportsMFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue.
Journal of clinical lipidologyMadelung disease (multiple symmetric lipomatosis).
Autopsy & case reportsMultiple Symmetric Lipomatosis: New Classification System Based on the Largest German Patient Cohort.
Plastic and reconstructive surgery. Global openAdipose tissue-derived stem cells from affected and unaffected areas in patients with multiple symmetric lipomatosis show differential regulation of mTOR pathway genes.
Clinical hemorheology and microcirculationMadelung's disease (multiple symmetric lipomatosis) in an alcoholic patient.
Revista de gastroenterologia de Mexico (English)Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis.
Molecular medicine reportsMultiple symmetric lipomatosis.
Polish archives of internal medicineMultiple symmetric lipomatosis and gynecomastia: A case report and relative literature review.
Journal of clinical lipidologyMadelung's Disease: Revision of 59 Surgical Cases.
Aesthetic plastic surgeryHomozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.
American journal of medical genetics. Part ACentral nervous system involvement in multiple symmetric lipomatosis.
Journal of the neurological sciencesA case of symmetrical lipomatosis of the tongue presenting as macroglossia.
Annali italiani di chirurgiaAdipose-Derived Stromal Cells from Lipomas: Isolation, Characterisation and Review of the Literature.
Pathobiology : journal of immunopathology, molecular and cellular biologyTranscription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells.
Plastic and reconstructive surgeryMultiple symmetric lipomatosis with spindle cell proliferation.
Pathology internationalMultiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy.
Journal of clinical neurology (Seoul, Korea)Symmetrical lipomatosis of the tongue: Case report and literature review.
Journal of clinical lipidologyExtracorporeal Acoustic Wave Therapy and Multiple Symmetric Lipomatosis.
Plastic and reconstructive surgery. Global openmiR-125a-3p and miR-483-5p promote adipogenesis via suppressing the RhoA/ROCK1/ERK1/2 pathway in multiple symmetric lipomatosis.
Scientific reportsHomozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
Human molecular geneticsA middle-aged man with increasing body fat.
Clinical obesityMultiple symmetric lipomatosis: a rare disease and its possible links to brown adipose tissue.
Nutrition, metabolism, and cardiovascular diseases : NMCDAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Lipomatose simétrica múltipla.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Lipomatose simétrica múltipla
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Perguntas, dicas e experiências compartilhadas aqui na página
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Madelung's disease involving the scrotum: a case report and diagnostic pitfalls with liposarcoma.
- Madelung Disease of the Scrotal Region: A Case Report.
- Teaching NeuroImage: Multiple Symmetric Lipomatosis as a Manifestation of Mitochondrial Cytopathy.
- Multiple symmetric lipomatosis as a marker of mitochondrial disease. Case report and review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology· 2025· PMID 39060540mais citado
- Correction: Madelung's disease -a case series from a single-center experience.
- Novel MFN2 compound heterozygote genotype in a patient with multiple symmetric lipomatosis and metabolic dysfunction.
- Giant Cervicothoracic Madelung Disease Presenting with Airway Compromise: A Case Report from Ethiopia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2398(Orphanet)
- OMIM OMIM:151800(OMIM)
- MONDO:0007908(MONDO)
- GARD:6957(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q4887975(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
