Raras
Buscar doenças, sintomas, genes...
Melorreostose
ORPHA:2485CID-10 · M85.8CID-11 · LD24.1YOMIM 155950DOENÇA RARA

Melorreostose é uma doença rara do tecido conjuntivo, caracterizada por uma alteração óssea que causa o endurecimento e o crescimento anormal dos ossos. Geralmente limitada a um lado do corpo (raramente bilateral), que se manifesta com dor, rigidez, encurtamento das articulações e deformidades.

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Introdução

O que você precisa saber de cara

📋

Melorreostose é uma doença rara do tecido conjuntivo, caracterizada por uma alteração óssea que causa o endurecimento e o crescimento anormal dos ossos. Geralmente limitada a um lado do corpo (raramente bilateral), que se manifesta com dor, rigidez, encurtamento das articulações e deformidades.

Pesquisas ativas
1 ensaio
3 total registrados no ClinicalTrials.gov
Publicações científicas
503 artigos
Último publicado: 2026 Apr

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.09
Europe
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: M85.8
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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

🦴
Ossos e articulações
7 sintomas
💪
Músculos
2 sintomas
🧬
Pele e cabelo
1 sintomas
🩸
Sangue
1 sintomas
📏
Crescimento
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

90%prev.
Aumento da densidade mineral óssea
Muito frequente (99-80%)
90%prev.
Rigidez articular
Muito frequente (99-80%)
90%prev.
Ossificação ectópica em tecido muscular
Muito frequente (99-80%)
90%prev.
Dor óssea
Muito frequente (99-80%)
90%prev.
Anormalidade do sistema esquelético
Muito frequente (99-80%)
90%prev.
Linfedema
Muito frequente (99-80%)
20sintomas
Muito frequente (12)
Frequente (2)
Ocasional (3)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

Aumento da densidade mineral ósseaIncreased bone mineral density
Muito frequente (99-80%)90%
Rigidez articularJoint stiffness
Muito frequente (99-80%)90%
Ossificação ectópica em tecido muscularEctopic ossification in muscle tissue
Muito frequente (99-80%)90%
Dor ósseaBone pain
Muito frequente (99-80%)90%
Anormalidade do sistema esqueléticoAbnormality of the skeletal system
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico503PubMed
Últimos 10 anos134publicações
Pico202020 papers
Linha do tempo
2026Hoje · 2026🧪 2004Primeiro ensaio clínico📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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: Not applicable.

MAP2K1Dual specificity mitogen-activated protein kinase kinase 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of

LOCALIZAÇÃO

Cytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, microtubule organizing center, spindle pole bodyCytoplasmNucleusMembrane

VIAS BIOLÓGICAS (10)
MAP2K and MAPK activationFrs2-mediated activationSignaling downstream of RAS mutantsSignaling by high-kinase activity BRAF mutantsSignaling by moderate kinase activity BRAF mutants
MECANISMO DE DOENÇA

Cardiofaciocutaneous syndrome 3

A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
99.1 TPM
Cérebro - Hemisfério cerebelar
89.3 TPM
Brain Frontal Cortex BA9
87.1 TPM
Brain Nucleus accumbens basal ganglia
71.7 TPM
Brain Anterior cingulate cortex BA24
55.9 TPM
OUTRAS DOENÇAS (5)
melorheostosiscardiofaciocutaneous syndrome 3cardiofaciocutaneous syndromeRASopathy
HGNC:6840UniProt:Q02750

Variantes genéticas (ClinVar)

156 variantes patogênicas registradas no ClinVar.

🧬 MAP2K1: NM_002755.4(MAP2K1):c.364A>C (p.Asn122His) ()
🧬 MAP2K1: NM_002755.4(MAP2K1):c.356A>G (p.His119Arg) ()
🧬 MAP2K1: NM_002755.4(MAP2K1):c.159T>G (p.Phe53Leu) ()
🧬 MAP2K1: NM_002755.4(MAP2K1):c.80A>G (p.Glu27Gly) ()
🧬 MAP2K1: NM_002755.4(MAP2K1):c.556A>T (p.Ile186Phe) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 40 variantes classificadas pelo ClinVar.

8
30
2
Patogênica (20.0%)
VUS (75.0%)
Benigna (5.0%)
VARIANTES MAIS SIGNIFICATIVAS
MAP2K1: NM_002755.4(MAP2K1):c.528C>T (p.Gly176=) [Conflicting classifications of pathogenicity]
MAP2K1: NM_002755.4(MAP2K1):c.200A>G (p.Asp67Gly) [Likely pathogenic]
MAP2K1: NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser) [Conflicting classifications of pathogenicity]
MAP2K1: NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile) [Conflicting classifications of pathogenicity]
MAP2K1: NM_002755.4(MAP2K1):c.*17A>T [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Melorreostose

🗺️

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

Pesquisa e ensaios clínicos

3 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
132 papers (10 anos)
#1

Cervical spinal melorheostosis causing myelopathy: a rare case and review of the literature.

Journal of surgical case reports2026 Mar

Melorheostosis is a progressive sclerosing bone dysplasia that rarely involves the spine. When spinal involvement occurs, it can lead to significant neurological compromise due to spinal cord compression. We report the case of a previously healthy 22-year-old woman who presented with progressive gait instability and upper motor neuron symptoms secondary to a hyperostotic lesion extending from C2 to C5. Imaging demonstrated severe left-sided spinal canal stenosis, prompting urgent surgical decompression with posterior cervical fusion. Intraoperative neuromonitoring showed complete loss of all sensory and motor potentials from the left side following decompression. Accordingly, she woke up with complete hemiplegia; however, rapid improvement was noted over the following days. Through analysis of 25 documented cases, we highlight the variability in anatomical involvement, clinical presentation, and management strategies. This report underscores the importance of an individually tailored surgical intervention and contributes to the scarce literature on cervical spinal melorheostosis.

#2

Combined Melorheostosis and Osteopoikilosis: Uncommon Presentation with Sciatic Nerve Neuropathy: A Case Report.

JBJS case connector2026 Jan 01

A 27-year-old man presented with an 8-year history of chronic right gluteal and posterior thigh pain, worsened by sitting and unresponsive to conservative treatment. Imaging revealed widespread melorheostosis and osteopoikilosis of the right lower extremity, with 2 gluteal soft tissue masses compressing the sciatic nerve. The masses were excised using a dual surgical approach, achieving successful sciatic nerve decompression. Postoperatively, the patient regained normal sitting and sleeping tolerance, with complete pain relief maintained over a 15-month follow-up. Melorheostosis, a rare sclerosing bone disorder sometimes associated with osteopoikilosis, may require surgery when large lesions cause nerve compression.

#3

Wrist and Hand Melorheostosis: Case Report With Surgical Consideration.

Journal of hand surgery global online2026 Jan

Melorheostosis is a rare, sporadic, benign bone disorder with an unclear cause. We present a case report of a 34-year-old man with chronic deformity secondary to melorheostosis. He complained of deformity and limited range of motion affecting his functionality. Surgical debulking of the sclerotic lesion was performed. The clinical outcome was satisfactory with no signs of recurrence at 9-months follow-up.

#4

Progress towards drug treatment for melorheostosis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2026 Mar 10
#5

Developing a standard dataset in the European registries for rare endocrine and bone conditions-a Melorheostosis dataset.

Orphanet journal of rare diseases2025 Jul 01

Melorheostosis is a rare skeletal and connective tissue disorder with the estimated prevalence of 1/1,100,000. Low prevalence of rare diseases (RDs) can lead to suboptimal knowledge and expertise among clinicians. The European Registries for Rare Endocrine and Bone Conditions (EuRREB) facilitates collection of a set of Core Data Elements and a specific dataset within the 'condition specific module' of the Core Registry platform. The Rare Bone Disease Action Group of the European Calcified Tissue Society (ECTS) collaborated with ERN BOND to develop a specific dataset for Melorheostosis. An initial dataset was shortened to 44 unique variables. In January 2023, the Melorheostosis condition specific module was published and now consists of 18 patients from 2 countries. The median age of patients was 49 years old (range 23-82) and female to male ratio was 15:3 (83.3%). Family history of Melorheostosis was negative for all patients. The most affected bones were lower limbs in 12 cases (66.7%). Specifically, spine, feet and ribs were involved each in 2 cases (11%), skull and pelvis-in one patient each (5.5%). Two patients (11%) suffered from more than 1 lesion. Hyperostosis was present in 3 patients (16.7%), skeletal deformity-in 6 (33%), joint stiffness - in 11 (61%), asymmetry-in 16 (88.9%), joint limitation-in 12 (66.7%) patients. Swelling and muscle atrophy were reported in 1 case each (5.5%), vascular abnormalities-in 2 cases (11%), skin abnormality in 1 case (5.5%). Pain was present in 14 from 18 patients (77.8%). Genetic testing was performed in 5 patients (27.7%). A condition specific module, for Melorheostosis, within an established registry has been developed. This will serve a useful resource to inform clinicians about this rare disease, and can support several healthcare initiatives such as guidelines creation and healthcare improvement strategies.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC449 artigos no totalmostrando 128

2026

Cervical spinal melorheostosis causing myelopathy: a rare case and review of the literature.

Journal of surgical case reports
2026

Progress towards drug treatment for melorheostosis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2025

Double crushing weakness of the right hand: A case report with coexistence melorheostosis and cerebral palsy.

Turkish journal of physical medicine and rehabilitation
2025

Delayed Diagnosis of a Rare Case of Melorheostosis Affecting Both Upper Limbs.

Cureus
2026

Combined Melorheostosis and Osteopoikilosis: Uncommon Presentation with Sciatic Nerve Neuropathy: A Case Report.

JBJS case connector
2026

Wrist and Hand Melorheostosis: Case Report With Surgical Consideration.

Journal of hand surgery global online
2025

The melorheostosis with severe knee and ankle deformity treated by total knee arthroplasty with V-Y quadricepsplasty: a case report and literature review.

BMC musculoskeletal disorders
2025

CDK4 inhibition reduces proliferation and mineralization in MAP2K1+ melorheostosis: opening a pathway to treatment.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2025

Melorheostosis with Extraosseous Extension Mimicking a Cartilaginous Tumor: A Case Report.

Journal of the Belgian Society of Radiology
2025

Melorheostosis of the Hip: A Case Report.

Cureus
2025

Melorheostosis: Clinical, radiological, and histopathological features with a literature review.

Physiological reports
2025

Melorheostosis: A Rare Case Report with Pelvic and Lumbar Involvement.

Journal of orthopaedic case reports
2025

Developing a standard dataset in the European registries for rare endocrine and bone conditions-a Melorheostosis dataset.

Orphanet journal of rare diseases
2025

Management of a case of melorheostosis deformity and pain with intramedullary nailing.

European journal of medical genetics
2025

Melorheostosis: A Systematic Review of Clinical Manifestations, Diagnostic Challenges, Therapeutic Strategies, and Physiotherapeutic Interventions.

Cureus
2025

Melorheostosis: Two Case Reports and Review of Current Literature.

Journal of orthopaedic case reports
2025

Combined Axial and Peripheral Melorheostosis in a Young Boy: A Unique Case.

Current rheumatology reviews
2025

Calvarial melorheostosis: an extremely rare case and diagnostic challenge.

Skeletal radiology
2024

Sclerosing bone dysplasias: a pictorial essay.

Radiologia brasileira
2025

Unraveling melorheostosis: insights into clinical features, diagnosis, and treatment.

JBMR plus
2024

A rare case of monostotic Melorheostosis of right ulna presenting with chronic forearm pain - Case report.

International journal of surgery case reports
2024

Surgical treatment of progressive melorheostosis worsening over 19 years: A case report.

The Knee
2024

Melorheostosis Involving the Hip Joint.

Journal of the Belgian Society of Radiology
2024

Clinical report of metacarpal melorheostosis: a rare disease with "the dripping candle wax" appearance on different imaging modalities.

Oxford medical case reports
2024

Arthroscopic Management of Melorheostosis-Induced Ankle Deformity: A Case Report.

Cureus
2024

Melorheostosis of the cervical and cervicothoracic spine: review of the literature and presentation of 3 new cases.

Archives of orthopaedic and trauma surgery
2024

Melorheostosis (Leri's Disease): A Review.

Cureus
2024

[Melorheostosis: a rare osteopathy].

La Revue du praticien
2024

Melorheostosis With Uniform Rib Thickening.

Clinical nuclear medicine
2024

A focus on melorheostosis disease: a literature review and case report of femoral-acetabular impingement due to melorheostosis treated with surgical hip osteoplasty.

Reumatismo
2024

Melorheostosis: A rare disease of the bone.

International journal of rheumatic diseases
2023

Late-Onset Melorheostosis: A Case Report.

Case reports in oncology
2024

Aneurysmal bone cyst-like changes developed in melorheostosis with epiphyseal osteopoikilosis.

Skeletal radiology
2023

Melorheostosis: A Pediatric Case of a Rare Association With Carpal Tunnel Syndrome.

Cureus
2024

Classic "dripping candle wax" pattern in melorheostosis.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2023

VEGF Secretion Drives Bone Formation in Classical MAP2K1+ Melorheostosis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2023

Spinal Melorheostosis: A Rare Presentation.

JBJS case connector
2023

The periosteal "dripping candle wax" sign: Classic melorheostosis.

Joint bone spine
2023

A Rare Case of Melorheostosis Presenting with Extra-osseous Lesions Around the Knee: Case Report.

Journal of orthopaedic case reports
2023

Melorheostosis: A Review of the Literature and a Case Report.

Medicina (Kaunas, Lithuania)
2023

Buschke-Ollendorff Syndrome: A Rare Cause of Unilateral Genu Valgum.

Cureus
2023

Melorheostosis - a rare and progressive disease.

The Pan African medical journal
2022

Spinal Melorheostosis Associated with Intradural Fibrous Band and Extensive Lipomatosis Causing Thoracic Cord Tethering and Myelomalacia: A Unique Case Highlighting Importance of MRI in Management.

The Indian journal of radiology &amp; imaging
2022

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case.

Molecular genetics &amp; genomic medicine
2022

Middle-Aged Male With Melorheostosis.

Mayo Clinic proceedings
2022

SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis.

Bone reports
2022

Melorheostosis or "Dripping Candle Wax" Bone Disease.

The Journal of rheumatology
2022

Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report.

Journal of musculoskeletal &amp; neuronal interactions
2021

Bisphosphonate Therapy in the Management of Symptomatic Melorheostosis of Tibia.

Journal of orthopaedic case reports
2023

Occupational engagement, fatigue, and upper and lower extremity abilities in persons with melorheostosis.

PM &amp; R : the journal of injury, function, and rehabilitation
2022

A case of spinal melorheostosis.

Journal of clinical imaging science
2022

Fibroblasts from Patients with Melorheostosis Promote Angiogenesis in Healthy Endothelial Cells through Secreted Factors.

The Journal of investigative dermatology
2022

[Melorheostosis - a benign entity mimicking malignant bone tumor in young adults].

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2021

Osteoblast Dysfunction in Non-Hereditary Sclerosing Bone Diseases.

International journal of molecular sciences
2021

Melorheostosis of the Fossa Intercondylaris Femoris - A Case Report and Review of the Literature.

Journal of orthopaedic case reports
2021

Case Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs.

Journal of orthopaedic case reports
2021

KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib.

Clinical genetics
2020

Dripping Wax Bone Disease - Melorheostosis - A Rare Case Scenario.

Journal of orthopaedic case reports
2021

Cross-Sectional Imaging Useful in Melorheostosis.

JBMR plus
2021

Meralgia Paresthetica Caused by Melorheostosis Affecting the Ipsilateral Ilium: A Case Report.

JBJS case connector
2020

A rare case of melorheostosis with intra-articular extension causing medial patellar impingement.

The Indian journal of radiology &amp; imaging
2022

Open Excision of Olecranon Melorheostosis to Relieve Elbow Extension Block.

The Journal of hand surgery
2020

A Highly Unusual Clinical Presentation and Imaging Appearance of a Rare Diseases: Melorheostosis.

Journal of orthopaedic case reports
2020

Melorheostosis: Dripping candle wax disease.

The Indian journal of medical research
2020

Axial melorheostosis: A rare presentation.

Radiology case reports
2020

The dripping candle wax sign of melorheostosis.

SAGE open medical case reports
2021

Distribution and Functional Consequences of Somatic MAP2K1 Variants in Affected Skin Associated with Bone Lesions in Melorheostosis.

The Journal of investigative dermatology
2021

A systematic review of the clinical and radiographic features of hybrid central giant cell granuloma lesions of the jaws.

Acta odontologica Scandinavica
2020

Case of melorheostosis associated with ipsilateral verrucous epidermal nevus, linear connective tissue nevus, diffuse hyperpigmentation and hypertrichosis: A fortuitous coincidence?

The Journal of dermatology
2020

A Rare Case of Melorheostosis in the Hand of a Saudi Woman.

Cureus
2020

Monostotic melorheostosis and trigger finger.

Acta reumatologica portuguesa
2020

A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis.

Bone
2020

Spinal Melorheostosis: A Rare Cause for Thoracic Radiculopathy.

International journal of spine surgery
2020

Hide and seek: Somatic SMAD3 mutations in melorheostosis.

The Journal of experimental medicine
2020

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.

The Journal of experimental medicine
2020

Melorheostosis of upper limb: A report of four rare cases.

Journal of clinical orthopaedics and trauma
2020

Bone Features of Unaffected Skeletal Sites in Melorheostosis: A Case Report.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry
2020

Re: Osteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT.

Skeletal radiology
2020

Constitutive activation of MEK1 in osteoprogenitors increases strength of bone despite impairing mineralization.

Bone
2019

A rare case of melorheostosis of the hand in a pediatric patient.

Journal of orthopaedics
2019

Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study.

JBMR plus
2020

Rare and unusual bone dysplasia.

Journal of clinical pathology
2019

Melorheostosis: A Clinical, Pathologic, and Radiologic Case Series.

The American journal of surgical pathology
2019

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.

Calcified tissue international
2019

Melorheostosis in the pediatric hand.

Clinical case reports
2019

Melorheostosis Causing Compression of Common Peroneal Nerve at Fibular Tunnel.

World neurosurgery
2019

Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.

Calcified tissue international
2019

Melorheostosis: a rare sclerosing bone dysplasia. Usefulness of bone scintigraphy.

Revista espanola de medicina nuclear e imagen molecular
2019

Melorheostosis with an associated para-articular enhancing soft tissue mass.

Clinical imaging
2019

Osteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT.

Skeletal radiology
2019

Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2018

Melorheostosis of The Leg: A Case Report.

Journal of radiology case reports
2019

Melorheostosis in an Adolescent with Limb Length Discrepancy and Management with Epiphysiodesis with Eight Plates.

Journal of orthopaedic case reports
2018

Structural basis for receptor-regulated SMAD recognition by MAN1.

Nucleic acids research
2018

Debridement arthroplasty of a rare case of elbow stiffness. A case report and literature review.

International journal of surgery case reports
2018

Clinical improvement in a patient with monostotic melorheostosis after treatment with denosumab: a case report.

Journal of medical case reports
2018

CT analysis of anatomical distribution of melorheostosis challenges the sclerotome hypothesis.

Bone
2019

Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2018

Human Genetics of Sclerosing Bone Disorders.

Current osteoporosis reports
2018

Somatic activating mutations in MAP2K1 cause melorheostosis.

Nature communications
2017

Managing Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report.

Journal of orthopaedic case reports
2017

A Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder.

Case reports in orthopedics
2018

Arthritis in Melorheostosis-An Uncommon Feature in a Rare Disease.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2017

Melorheostosis: a Rare Sclerosing Bone Dysplasia.

Current osteoporosis reports
2017

Melorheostosis-Foot and ankle perspective.

Foot (Edinburgh, Scotland)
2017

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Bone
2017

18F-NaF PET/CT in Extensive Melorheostosis of the Axial and Appendicular Skeleton With Soft-Tissue Involvement.

Clinical nuclear medicine
2017

Paget's bone disease is not always the culprit.

European journal of internal medicine
2017

Melorheostosis with recurrent soft-tissue components: a histologically confirmed case.

Skeletal radiology
2016

Poster 442 Intractable Pelvic Pain Due to Melorheostosis Managed with Spinal Cord Stimulation: A Case Report.

PM &amp; R : the journal of injury, function, and rehabilitation
2017

Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic.

PM &amp; R : the journal of injury, function, and rehabilitation
2016

Melorheostosis of the Foot: A Case Report of A rare entity with a Review of Multimodality Imaging Emphasizing the Importance of Conventional Radiography in Diagnosis.

Journal of orthopaedic case reports
2016

Detection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT.

Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases
2016

Pelvic Pain Due to Ischial Tuberosity and Acetabular Melorheostosis-Multimodal Image Presentation.

PM &amp; R : the journal of injury, function, and rehabilitation
2016

Characterization of hypertrophic osteoarthropathy in an identified skeleton from Évora, Portugal, using combined and comparative morphology and microscopy.

International journal of paleopathology
2016

Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders.

The British journal of radiology
2015

A skeletal case of hypertrophic osteoarthropathy from the Canary Islands dating from 1000 BP.

International journal of paleopathology
2015

Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.

Pediatric dermatology
2014

Melorheostosis mimicking synovial osteochondromatosis.

Annals of Saudi medicine
2015

Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty.

JBJS case connector
2015

[X-ray performance of melorheostosis in right foot:report of one case].

Zhongguo gu shang = China journal of orthopaedics and traumatology
2015

Melorheostosis of the spine and ribs.

The spine journal : official journal of the North American Spine Society
2015

Correlative bone imaging in a case of Schnitzler's syndrome and brief review of the literature.

Hellenic journal of nuclear medicine
2015

Vascular Malformations Corresponding to Sclerotomes in Multifocal Melorheostosis: Painful Hip and Knee Contractures Treated with Total Joint Arthroplasty: A Case Report.

JBJS case connector
2015

Arthroscopic findings in melorheostosis.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2015

Melorheostosis involving the hand.

Joint bone spine
2015

Incidentally diagnosed melorheostosis of upper limb: case report.

BMC musculoskeletal disorders
2015

Melorheostosis: segmental osteopoikilosis or a separate entity?

Journal of pediatric orthopedics
Ver todos os 449 no EuropePMC

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Comunidades

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Doenças relacionadas

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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.

  1. Cervical spinal melorheostosis causing myelopathy: a rare case and review of the literature.
    Journal of surgical case reports· 2026· PMID 41852826mais citado
  2. Combined Melorheostosis and Osteopoikilosis: Uncommon Presentation with Sciatic Nerve Neuropathy: A Case Report.
    JBJS case connector· 2026· PMID 41505508mais citado
  3. Wrist and Hand Melorheostosis: Case Report With Surgical Consideration.
    Journal of hand surgery global online· 2026· PMID 41446309mais citado
  4. Progress towards drug treatment for melorheostosis.
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research· 2026· PMID 41804784mais citado
  5. Developing a standard dataset in the European registries for rare endocrine and bone conditions-a Melorheostosis dataset.
    Orphanet journal of rare diseases· 2025· PMID 40598201mais citado
  6. A case report and literature review of pediatric multifocal melorheostosis in a unilateral limb.
    Int J Surg Case Rep· 2026· PMID 41938408recente
  7. Double crushing weakness of the right hand: A case report with coexistence melorheostosis and cerebral palsy.
    Turk J Phys Med Rehabil· 2025· PMID 41717511recente
  8. Delayed Diagnosis of a Rare Case of Melorheostosis Affecting Both Upper Limbs.
    Cureus· 2025· PMID 41613667recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2485(Orphanet)
  2. OMIM OMIM:155950(OMIM)
  3. MONDO:0007970(MONDO)
  4. GARD:9474(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q1127727(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

Melorreostose
Compêndio · Raras BR

Melorreostose

ORPHA:2485 · MONDO:0007970
Prevalência
<1 / 1 000 000
Herança
Not applicable
CID-10
M85.8 · Outros transtornos especificados da densidade e da estrutura ósseas
CID-11
Ensaios
1 ativos
Início
All ages
Prevalência
0.09 (Europe)
MedGen
UMLS
C0025239
EuropePMC
Wikidata
Papers 10a
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