A síndrome de Maffucci é uma doença genética óssea e cutânea muito rara, caracterizada por múltiplos encondromas, levando a deformidades ósseas, combinadas com múltiplos hemangiomas escuros e de formato irregular ou, menos comumente, linfangiomas.
Introdução
O que você precisa saber de cara
A síndrome de Maffucci é uma doença genética óssea e cutânea muito rara, caracterizada por múltiplos encondromas, levando a deformidades ósseas, combinadas com múltiplos hemangiomas escuros e de formato irregular ou, menos comumente, linfangiomas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 26 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
2 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Catalyzes the NADP(+)-dependent oxidative decarboxylation of isocitrate (D-threo-isocitrate) to 2-ketoglutarate (2-oxoglutarate), which is required by other enzymes such as the phytanoyl-CoA dioxygenase (PubMed:10521434, PubMed:19935646). Plays a critical role in the generation of NADPH, an important cofactor in many biosynthesis pathways (PubMed:10521434). May act as a corneal epithelial crystallin and may be involved in maintaining corneal epithelial transparency (By similarity)
Cytoplasm, cytosolPeroxisome
Glioma
Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.
Plays a role in intermediary metabolism and energy production (PubMed:19228619, PubMed:22416140). It may tightly associate or interact with the pyruvate dehydrogenase complex (PubMed:19228619, PubMed:22416140)
Mitochondrion
D-2-hydroxyglutaric aciduria 2
A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.
Variantes genéticas (ClinVar)
117 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 14 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 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 — Síndrome de Maffucci
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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
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
3 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
A Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child.
Proteus syndrome (PS) is an exceptionally rare disorder characterized by asymmetric and disproportionate overgrowth of connective tissues. We report the case of an 8-year-old female presenting with irregular cranial protrusion, bilateral supraorbital ridge enlargement, overgrowth of the right hand and left foot, and a pelvic MRI revealing an ovarian tumor. Initially, the patient was suspected of having Maffucci syndrome (MS) upon admission. Genetic analysis of a lesion sample from the fifth toe of the left foot identified a heterozygous point mutation, 49G > A (p.Glu17Lys), in the AKT1 gene. The patient met the clinical-molecular diagnostic criteria established by Leslie G. Biesecker, scoring 15 points, thereby confirming the diagnosis of AKT1-related PS. This case report contributes to the enhanced understanding of PS diagnosis associated with AKT1 mutations.
A journey with Maffucci syndrome: From skull base chondrosarcoma to multiorgan management: A case report and literature review.
Maffucci syndrome is a very infrequently occurring genetic disorder. The 2 classic findings are enchondromas and hemangiomas with a high propensity to become malignant, leading to the formation of chondrosarcomas. In this study, we present the case of a 30-year-old male patient diagnosed with chondrosarcoma at the base of the skull related to Maffucci syndrome who presented with disturbances in visual perception and a palsy of the cranial nerve VI. His imaging studies confirmed the diagnosis; treatment included subtotal resection followed by radiation therapy. The following is the case that epitomizes the dreaded complications of Maffucci syndrome and the need for multidisciplinary, attentive follow-up to find early signs of malignant transformation.
Pituitary Complications of Enchondromas Due to Maffucci Syndrome.
Maffucci syndrome (MS) is a congenital disorder caused by a gain-of-function variant in isocitrate dehydrogenase-1 (IDH1) or isocitrate dehydrogenase-2 (IDH2) genes on chromosomes 2 and 15, respectively. Common manifestations include the development of multiple enchondromas, chondrosarcomas, and intracranial tumors such as pituitary adenomas. Endocrinological conditions are less frequently associated with MS. We present a patient with MS with complete anterior pituitary insufficiency with central hypothyroidism, adrenal insufficiency, and hypogonadotropic hypogonadism, which may be related to the mass effect of her intracranial enchondromas. With hormonal treatments including thyroid hormone replacement, hydrocortisone, and cabergoline, the patient's symptoms of fatigue and cold intolerance improved. We highlight the importance of endocrinological evaluation in patients with neurological tumors related to MS.
Deformity Correction and Limb Lengthening in Maffucci Syndrome - A Case Report.
?Maffucci syndrome (MS) is a rare disorder with enchondromatosis associated with multiple hemangiomas in soft tissue and internal organs. Enchondromas in the long bone lead to limb length discrepancy, deformity, and pathological fractures that usually need corrective osteotomies and limb lengthening. A female in her late adolescence with MS presented with significant varus deformity of the distal femur and left lower limb shortening of 11.5 cm. She underwent an acute correction of the varus with a distal femur osteotomy and gradual femoral lengthening using a monolateral fixator. She sustained a pathological fracture through the regenerate, needing an intramedullary nail stabilisation during follow-up. At a 2-year follow-up, the patient was left with a residual shortening of 5 cm, corrected with a shoe raise. She could walk full weight bearing and independently with her day-to-day activities and function. MS can present with significant limb length discrepancy and angular deformities. This case aims to inform clinicians of the diagnosis and management of this rare condition and highlight the importance of regular follow-up after complex surgery, and the impact coronavirus disease-19 lockdowns had on the inability of patients to do so.
Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.
The management of children with syndromes associated with an increased risk of benign and malignant neoplasms is a complex challenge for health care professionals. The 2023 American Association for Cancer Research Childhood Cancer Predisposition Workshop provided updated consensus guidelines on cancer surveillance in these syndromes, aiming to improve early detection and intervention and reduce morbidity associated with such neoplasms. In this article, we review several of the rare conditions discussed in this workshop. Ollier disease and Maffucci syndrome are enchondromatoses (disorders featuring benign bone lesions) with up to 50% risk of malignancy, including chondrosarcoma. These patients require surveillance with baseline whole-body MRI and routine monitoring of potential malignant transformation of bony lesions. Hereditary multiple osteochondromas carry a lower risk of chondrosarcoma (<6%) but still require lifelong surveillance and baseline imaging. Related syndromes of benign bone lesions are also described. Hereditary leiomyomatosis and renal cell carcinoma syndrome, associated with fumarate hydratase pathogenic variants, is discussed in detail. Surveillance for renal cell carcinoma in pediatric age is recommended, as well as prompt intervention when a lesion is detected. Schinzel-Giedion syndrome and Rubinstein-Taybi syndrome are described for their associated malignancies and other complications, as well as expert consensus on the need for childhood cancer surveillance. Clinical recommendations, including imaging modalities and frequency of screenings, are proposed and are tailored to each syndrome's age-specific tumor risk profile. In all syndromes, patients and their families should be educated about the potential malignancy risk and advised to seek medical care for rapid growth of a mass, persistent pain, or other unexplained symptoms.
Publicações recentes
Rate and Type of Surgery and Prevalence of Malignancy in Patients With Ollier's Disease and Maffucci Syndrome.
A rare coexistence: Ollier disease and primary hyperparathyroidism-mere coincidence or expanding the spectrum of Ollier disease?
A Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child.
A journey with Maffucci syndrome: From skull base chondrosarcoma to multiorgan management: A case report and literature review.
Pituitary Complications of Enchondromas Due to Maffucci Syndrome.
📚 EuropePMC135 artigos no totalmostrando 94
A Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child.
Case reports in pediatricsA journey with Maffucci syndrome: From skull base chondrosarcoma to multiorgan management: A case report and literature review.
Radiology case reportsPituitary Complications of Enchondromas Due to Maffucci Syndrome.
JCEM case reportsDeformity Correction and Limb Lengthening in Maffucci Syndrome - A Case Report.
Journal of orthopaedic case reportsUpdate on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.
Clinical cancer research : an official journal of the American Association for Cancer ResearchSpectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory.
Orphanet journal of rare diseasesTherapeutic effect of intramedullary reaming and nailing for long bones lengthening in children with Ollier disease and Maffucci syndrome on enchondromas: multicentric retrospective case series.
SICOT-JMaffucci Syndrome May Be a Heritable Thoracic Aortic Disease and a Cause of Aortic Dissection.
JACC. Case reportsMultiple enchondromas in Ollier's disease: A case report.
Radiology case reportsClinical and radiological response of Maffucci related enchondromas to mutant IDH1 inhibitor Ivosidenib.
BoneRobotic mitral valve repair and resection of a pericardial cyst in Maffucci syndrome with sternal manifestations: A case report.
JTCVS techniquesMultiple enchondromas and hobnail hemangiomas revealing a rare type of Maffucci syndrome.
International journal of dermatologyLower limb lymphangioma circumscriptum: The guiding sign for the diagnosis of Maffucci syndrome.
The Australasian journal of dermatologySuccessful sirolimus treatment of spindle cell haemangiomas in a paediatric patient with Maffucci syndrome.
Clinical and experimental dermatologyDefining priorities in the transition from paediatric to adult healthcare for rare bone disease patients: a dialogic approach.
European journal of medical geneticsA rare presentation of Maffucci syndrome: A case report and literature review.
Experimental and therapeutic medicineBrain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes.
Advances in experimental medicine and biologyBenign Brain and Spinal Tumors Originating from Bone or Cartilage.
Advances in experimental medicine and biologyA Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report.
Medicina (Kaunas, Lithuania)Pelvic Vascular Malformations and Recurrent Rectal Prolapse in a Patient With Maffucci Syndrome: A Diagnostic and Therapeutic Challenge.
CureusIntracranial Metastasis of Extracranial Chondrosarcoma: Systematic Review With Illustrative Case.
Brain tumor research and treatmentVascular Malformation? It's Maffucci Syndrome.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgerySupratentorial multifocal gliomas associated with Ollier disease harboring IDH1 R132H mutation: A case report.
Neuropathology : official journal of the Japanese Society of NeuropathologyDisruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
PLoS geneticsSurgical Resection Combined with Sclerotherapy Treating Maffucci Syndrome's Venous Malformation in Head and Neck Region.
Vascular and endovascular surgeryIDH Mutations Are Potentially the Intrinsic Genetic Link among the Multiple Neoplastic Lesions in Ollier Disease and Maffucci Syndrome: A Clinicopathologic Analysis from a Single Institute in Shanghai, China.
Diagnostics (Basel, Switzerland)Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management.
Radiographics : a review publication of the Radiological Society of North America, IncMaffucci syndrome: Case report and review of diagnostic signs of the rare disease.
Radiology case reportsImages in Vascular Medicine: Clinical and radiological features of Maffucci syndrome.
Vascular medicine (London, England)Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.
World journal of surgical oncologyA Unique Association: Maffucci Syndrome and Cardiac Pathology.
Anatolian journal of cardiologyOllier's Disease - Rare Presentation of the Rare Disease.
Journal of orthopaedic case reportsJuvenile granulosa cell tumor associated with Ollier disease.
Skeletal radiologyCell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome.
HereditasMaffucci Syndrome with Intrahepatic Cholangiocarcinoma: A Case Report.
Case reports in oncologyA case of Maffucci syndrome with a buccal hemangioma harboring a mutation in IDH1.
Oral oncologySomatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.
Cold Spring Harbor molecular case studiesUpdate on the imaging features of the enchondromatosis syndromes.
Skeletal radiologyMultifocal chondrosarcoma of the hand: Case report and review of the literature.
Clinical case reportsMonomelic Maffucci syndrome.
BMJ case reportsCT angiography and MRI of hand vascular lesions: technical considerations and spectrum of imaging findings.
Insights into imagingMRI features of low-grade and high-grade chondrosarcoma in enchondromatosis.
Skeletal radiologyCancer surveillance in children with Ollier Disease and Maffucci Syndrome.
American journal of medical genetics. Part AMalignant Transformation of Maffucci Syndrome.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases[Synchronous primary double: condrosarcoma and sarcoma high grade fusocelular associated with Maffucci syndrome].
Acta ortopedica mexicanaMultiple hereditary exostoses and enchondromatosis.
Best practice & research. Clinical rheumatologyEndonasal interdural pituitary transposition for resection of a posterior clinoid process enchondroma in a patient with Maffucci syndrome.
Neurosurgical focus: VideoNatural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature.
American journal of medical genetics. Part AGranulosa Cell Tumor of the Ovary Accompanying with Ollier's Disease: First Case of Contralateral Presentations.
Journal of obstetrics and gynaecology of IndiaSomatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.
Frontiers in oncologyDifferential Diagnosis of Cartilaginous Lesions of Bone.
Archives of pathology & laboratory medicineMaffucci Syndrome with Clival Enchondroma in Nasopharynx: A Case Report.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaMaffucci's syndrome in association with giant tubular adenoma of the breast: Case report and literature review.
International journal of surgery case reportsGenetic Causes of Rare Pediatric Ovarian Tumors.
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiSkull Base Enchondroma and Chondrosarcoma in Ollier Disease and Maffucci Syndrome.
World neurosurgeryMaffucci syndrome and anaesthesia: Case report.
Indian journal of anaesthesiaSuccessful treatment of spindle cell hemangiomas in a patient with Maffucci syndrome and review of literatures.
Dermatologic therapyJuvenile granulosa cell tumor associated with Maffucci syndrome in pregnancy: A case report.
Clinical imagingSkull Base Chondrosarcoma Caused by Ollier Disease: A Case Report and Literature Review.
World neurosurgery[Chondromucinous tumors involving craniocerebral slope area: a clinicopathological analysis of eight cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyUnsatisfactory response to sirolimus in Maffucci syndrome-associated spindle cell hemangiomas.
Dermatologic therapyMaffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report.
Journal of neurosurgeryMolecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism.
Brain tumor pathologySynovial sarcoma complicating Maffucci syndrome.
Indian journal of dermatology, venereology and leprologyThe role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms.
Laboratory investigation; a journal of technical methods and pathologyMaffucci Syndrome Associated With Adrenocorticotropic Hormone-Independent Bilateral Macronodular Adrenal Hyperplasia.
Journal of the Endocrine SocietySclerosing angiomatoid nodular transformation of the spleen in a patient with Maffucci syndrome: a case report and review of literature.
Diagnostic pathologyMutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas: A study of 19 cases.
Genes, chromosomes & cancerConstitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.
Pediatric blood & cancerThe association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease).
Taiwanese journal of obstetrics & gynecologyMaffucci syndrome with multiple hand calcifications.
Joint bone spineGenetics and genomics of ovarian sex cord-stromal tumors.
Clinical geneticsEsophageal hemangiomatosis with chest CT revealing a fine, curvilinear, calcified thrombus within the esophagus simulating acute esophageal fishbone impaction: first reported endoscopic photograph of GI manifestations in Maffucci syndrome.
Gastrointestinal endoscopyGenetic basis for vascular anomalies.
Seminars in cutaneous medicine and surgeryMultiple Enchondromas of the Hand in Children: Long-Term Follow-Up of Mean 15.4 Years.
Journal of pediatric orthopedicsGynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes.
Surgical pathology clinicsMultiple enchondromas and skin angiomas: Maffucci syndrome.
Lancet (London, England)Characteristics of gliomas in patients with somatic IDH mosaicism.
Acta neuropathologica communicationsMaffucci syndrome and neoplasms: a case report and review of the literature.
BMC research notesMaffucci Syndrome. An Interesting Case and a Review of the Literature.
Bulletin of the Hospital for Joint Disease (2013)Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome.
International journal of hematologySomatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome.
Journal of neurosurgeryPaediatric chondrosarcomas: a retrospective review of 17 cases.
Histopathology[Profile of Activation of Tyrosine Kinases and MAP Kinases in Therapy of Maffucci Syndrome].
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnostiMacrodactyly as a Presenting Sign of Maffucci Syndrome.
The Journal of pediatricsEndoscopic Endonasal Approach in Skull Base Chondrosarcoma Associated with Maffucci Syndrome: Case Series and Literature Review.
World neurosurgery[Maffucci syndrome: enchondromas to closely monitor].
The Pan African medical journalGenetic variation analysis in a Chinese Maffucci syndrome patient.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryThe oncometabolite D-2-hydroxyglutarate induced by mutant IDH1 or -2 blocks osteoblast differentiation in vitro and in vivo.
OncotargetMaffucci syndrome in an eight-year-old girl.
Indian journal of dermatology, venereology and leprologyA case of myelopathy because of enchondromas from Maffucci syndrome with successful surgical treatment.
The spine journal : official journal of the North American Spine SocietyOsseous tumor of the hand: finger enchondroma.
EplastyFailure of rapamycin in the treatment of multiple haemangiomas associated with Maffucci syndrome.
Clinical and experimental dermatologyCommon somatic alterations identified in maffucci syndrome by molecular karyotyping.
Molecular syndromologyAssociações
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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.
- A Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child.
- A journey with Maffucci syndrome: From skull base chondrosarcoma to multiorgan management: A case report and literature review.
- Pituitary Complications of Enchondromas Due to Maffucci Syndrome.
- Deformity Correction and Limb Lengthening in Maffucci Syndrome - A Case Report.
- Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.Clinical cancer research : an official journal of the American Association for Cancer Research· 2025· PMID 39601780mais citado
- Rate and Type of Surgery and Prevalence of Malignancy in Patients With Ollier's Disease and Maffucci Syndrome.
- A rare coexistence: Ollier disease and primary hyperparathyroidism-mere coincidence or expanding the spectrum of Ollier disease?
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:163634(Orphanet)
- OMIM OMIM:614569(OMIM)
- MONDO:0013808(MONDO)
- GARD:6958(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1419261(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
