Displasia Epifisária Hemimélica (DEH), também conhecida como Doença de Trevor, é uma condição rara que afeta mais frequentemente a epífise (a ponta) dos ossos longos em crianças. O diagnóstico e tratamento precoces são importantes para evitar problemas nas articulações e deformidades. Eles podem ser cirúrgicos ou não cirúrgicos, dependendo do local afetado e dos sintomas. Como essa condição tende a piorar com o tempo e há risco de a deformidade se agravar, os pacientes precisam ser acompanhados até o final do crescimento dos ossos. A causa da Displasia Epifisária Hemimélica não é conhecida.
Introdução
O que você precisa saber de cara
Displasia Epifisária Hemimélica (DEH), também conhecida como Doença de Trevor, é uma condição rara que afeta mais frequentemente a epífise (a ponta) dos ossos longos em crianças. O diagnóstico e tratamento precoces são importantes para evitar problemas nas articulações e deformidades. Eles podem ser cirúrgicos ou não cirúrgicos, dependendo do local afetado e dos sintomas. Como essa condição tende a piorar com o tempo e há risco de a deformidade se agravar, os pacientes precisam ser acompanhados até o final do crescimento dos ossos. A causa da Displasia Epifisária Hemimélica não é conhecida.
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
+ 5 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 18 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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)
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Publicações mais relevantes
Exceptionally Extensive Trevor's Disease Involving All Four Radial Carpals Presenting With Gross Wrist Deformity.
Trevor's disease, also known as dysplasia epiphysealis hemimelica (DEH), is an uncommon developmental disorder in which the epiphyseal cartilage grows asymmetrically, typically affecting the lower limbs. Carpal involvement is exceptionally uncommon. We report a four-year-old girl presenting with a progressively enlarging, firm swelling over the volar-radial aspect of the wrist, causing deformity and restricted motion. Imaging revealed multilobulated osteocartilaginous lesions involving the scaphoid, lunate, trapezium, and trapezoid, as well as an additional lesion within the abductor pollicis longus tendon sheath. Histopathology confirmed the diagnosis of DEH. Surgical excision with deformity correction resulted in good functional recovery without recurrence at six months. This rare case of extensive, multilobulated carpal DEH underscores the importance of recognizing its epiphyseal origin to differentiate it from osteochondroma and guide appropriate management.
Chondrosarcoma arising from long-standing Dysplasia Epiphysealis Hemimelica of the proximal humerus: A case report.
Dysplasia Epiphysealis Hemimelica (DEH), or Trevor's disease, is a rare, nonhereditary skeletal disorder involving abnormal cartilaginous overgrowth of the epiphysis. To our knowledge, malignant transformation has not been previously documented. We report a unique case of chondrosarcoma arising from a DEH lesion in the proximal humerus nearly 30 years after the initial diagnosis. The patient was treated with wide resection and reconstruction using a proximal humeral replacement with a reverse-constrained total shoulder arthroplasty. This case highlights the need for long-term follow-up in patients with DEH, especially when new symptoms suggest possible malignant transformation.
Trevor Disease With Unusual Carpal Bone Involvement: A Case Report and Literature Review.
Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare and intriguing developmental disorder characterized by asymmetric cartilage overgrowth at the epiphyses, predominantly affecting long bones. We present a case of an 8-year-old girl with dysplasia epiphysealis hemimelica involving the carpal bones which is a highly unusual site in the upper limb. The patient underwent successful surgical excision of the symptomatic wrist mass, leading to notable functional improvement, albeit with mild residual extension limitation. This case highlights the critical role of advanced imaging in accurate diagnosis and surgical planning. Although conservative management remains the standard, timely surgical intervention may be necessary to alleviate symptoms and restore function in cases with notable impairment.
Dysplasia Epiphysealis Hemimelica of Humerus and Glenoid.
Arthroscopic Management of Dysplasia Epiphysealis Hemimelica (Trevor Disease) of the Ankle.
Dysplasia epiphysealis hemimelica (Trevor disease) is a rare skeletal development disorder of childhood, characterized by irregular ossification centers, which may develop together or individually, leading to asymmetric epiphyseal cartilage overgrowth, affecting 1 side of the epiphyses or the epiphyses equivalents (the medial side being affected twice as often as the lateral), until skeletal maturity is reached. Trevor disease around the ankle is locally aggressive with a poor outcome, especially in tumors involving the articular surface. The purpose of this Technical Note is to describe the details of arthroscopic management of dysplasia epiphysealis hemimelica (Trevor disease) of the ankle.
Publicações recentes
Exceptionally Extensive Trevor's Disease Involving All Four Radial Carpals Presenting With Gross Wrist Deformity.
🥈 ObservacionalChondrosarcoma arising from long-standing Dysplasia Epiphysealis Hemimelica of the proximal humerus: A case report.
🥈 ObservacionalTrevor Disease With Unusual Carpal Bone Involvement: A Case Report and Literature Review.
Dysplasia Epiphysealis Hemimelica of Humerus and Glenoid.
💬 OpiniãoArthroscopic Management of Dysplasia Epiphysealis Hemimelica (Trevor Disease) of the Ankle.
📖 Revisão📚 EuropePMC170 artigos no totalmostrando 48
Exceptionally Extensive Trevor's Disease Involving All Four Radial Carpals Presenting With Gross Wrist Deformity.
CureusChondrosarcoma arising from long-standing Dysplasia Epiphysealis Hemimelica of the proximal humerus: A case report.
SICOT-JTrevor Disease With Unusual Carpal Bone Involvement: A Case Report and Literature Review.
Journal of the American Academy of Orthopaedic Surgeons. Global research & reviewsDysplasia Epiphysealis Hemimelica of Humerus and Glenoid.
RadiologyArthroscopic Management of Dysplasia Epiphysealis Hemimelica (Trevor Disease) of the Ankle.
Arthroscopy techniquesDysplasia Epiphysealis Hemimelica (Trevor Disease) of the Talus in a Toddler: A Case Report With a Long Follow-up.
Foot & ankle orthopaedicsUnveiling dysplasia epiphysealis hemimelica (Trevor's disease) in the foot and ankle: A systematic review.
Journal of orthopaedicsIsolated Dysplasia Epiphysealis Hemimelica (Trevor Disease) of the Acetabulum: Literature Review.
Journal of the American Academy of Orthopaedic Surgeons. Global research & reviewsSolitary Extraskeletal Giant Osteochondroma of the Ankle in a Four-Year-Old Boy.
CureusDysplasia Epiphysealis Hemimelica in the Lower Extremity.
Journal of pediatric orthopedicsA Lumpy-Bumpy Painful Ankle - Trevor Disease of the Ankle in a 9-year-old.
Journal of orthopaedic case reportsTreatment of Dysplasia Epiphysealis Hemimelica with Autologous Chondrocyte Implantation: A Case Report.
JBJS case connectorA Symptomatic Swollen Ankle in an 8-year-old Male Child - A Rare Case Report of Dysplasia Epiphysealis Hemimelica.
Journal of orthopaedic case reportsRare presentation of a rare disease dysplasia epiphysealis hemimelica.
Pain practice : the official journal of World Institute of PainAn unconventional presentation of Hip Joint Trevor disease with the involvement of the whole capital femoral epiphysis: A case report and literature review.
Acta orthopaedica et traumatologica turcicaA Case Report of Trevor's Disease in a Pediatric Patient with Hereditary Multiple Exostoses Disease.
Journal of orthopaedic case reportsBilateral Toe Walking as Presentation of Unilateral Dysplasia Epiphysealis Hemimelica of the Ankle: A Case Report.
JBJS case connectorDysplasia Epiphysealis Hemimelica (Trevor's Disease) in Children, Two New Cases: Diagnosis, Treatment, and Literature Review.
Children (Basel, Switzerland)Dysplasia Epiphysealis Hemimelica Presenting as Multiple Loose Bodies: A Case Report.
JBJS case connectorJuvenile Dysplasia Epiphysealis Hemimelica with Multiple Ankle Free Body.
Case reports in orthopedicsDysplasia epiphysealis hemimelica of the radial head: a rare case report.
BMC musculoskeletal disordersDysplasia Epiphysealis Hemimelica (Trevor Disease) of the Patella: A Case Report.
JBJS case connectorDysplasia Epiphysealis Hemimelica Can Be Controlled by Growth Modulation: A Case Report.
JBJS case connectorTKA in the treatment of bilateral dysplasia epiphysealis hemimelica (Trevor's Disease) of the knee in a 50-year-old man: a case report.
BMC musculoskeletal disordersTrevor's disease of the distal radioulnar joint in two children with achondroplasia.
American journal of medical genetics. Part ADysplasia epiphysealis hemimelica combined with contralateral accessory scaphoid bone: A case report and literature review.
MedicineDysplasia Epiphysealis Hemimelica/Trevor Disease: Report of a Lesion Solely Involving the Lunate Bone: A Case Report.
JBJS case connectorBenign bone tumours of tibial tuberosity clinically mimicking Osgood-Schlatter disease: a case series.
International orthopaedicsCombined Anterior and Posterior Ankle Arthroscopy for Dysplasia Epiphysealis Hemimelica of the Ankle in a Child: A Case Report.
Journal of orthopaedic case reportsAsymptomatic Dysplasia Epiphysealis Hemimelica of the Shoulder in a Skeletally Mature Patient with Normal Function.
Case reports in radiologyWatching and waiting in chronic hip pain.
Lancet (London, England)An unusual presentation of Trevor's disease at the ankle joint: Involvement of both medial and lateral epiphyses.
Foot (Edinburgh, Scotland)More Than Epiphyseal Osteochondromas: Updated Understanding of Imaging Findings in Dysplasia Epiphysealis Hemimelica (Trevor Disease).
AJR. American journal of roentgenologyArthroscopic treatment of intra-articular dysplasia epiphysealis hemimelica of the knee.
SAGE open medical case reportsA child with painless left wrist swelling.
Skeletal radiologyThe Natural History of the Development of Trevor Disease of the Hip and Subsequent Arthroplasty: A Case Report.
JBJS case connectorDysplasia epiphysealis hemimelica: a histological comparative study with osteochondromas.
Journal of children's orthopaedicsArthroscopic Treatment of 2 Consecutive Cases of Dysplasia Epiphysealis Hemimelica of the Ankle: A 5-Year Follow-Up Report.
Case reports in orthopedicsNovel case of Trevor's disease: Adult onset and later recurrence.
World journal of orthopedicsDysplasia epiphysealis hemimelica of the lower limb.
Skeletal radiology[An eight-year-old boy with painful flat feet].
Der RadiologeTrevor's Disease: Management Difficulties and Proposed Classification.
OrthopedicsDysplasia epiphysealis hemimelica (Trevor disease) in the ankle.
Therapeutics and clinical risk managementTrevor's disease: up-to-date review of the literature with case series.
Journal of pediatric orthopedics. Part BDysplasia epiphysealis hemimelica of the ankle: a fracture-like rare developmental disorder.
BMJ case reportsDysplasia Epiphysealis Hemimelica Treated with Osteochondral Allograft: A Case Report.
The Iowa orthopaedic journalDysplasia epiphysealis hemimelica (Trevor disease) of the ankle.
OrthopedicsDysplasia epiphysealis hemimelica of the knee: an unusual presentation with intra-articular loose bodies and literature review.
Journal of pediatric orthopedics. Part BAssociações
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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.
- Exceptionally Extensive Trevor's Disease Involving All Four Radial Carpals Presenting With Gross Wrist Deformity.
- Chondrosarcoma arising from long-standing Dysplasia Epiphysealis Hemimelica of the proximal humerus: A case report.
- Trevor Disease With Unusual Carpal Bone Involvement: A Case Report and Literature Review.Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews· 2025· PMID 41364308mais citado
- Dysplasia Epiphysealis Hemimelica of Humerus and Glenoid.
- Arthroscopic Management of Dysplasia Epiphysealis Hemimelica (Trevor Disease) of the Ankle.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1822(Orphanet)
- OMIM OMIM:127800(OMIM)
- MONDO:0007489(MONDO)
- GARD:2019(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q7839508(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.
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