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Trevor Disease

Dysplasia Epiphysealis Hemimelica

Trevor disease, also known as hemimelic epiphyseal dysplasia, is a rare skeletal disorder in which abnormal proliferation of epiphyseal cartilage occurs, most commonly in the ankle or the knee. A slow-growing mass that is usually painless is the principal complaint. The diagnosis is made through imaging studies and biopsy.


Trevor disease is more commonly known as hemimelic epiphyseal dysplasia (HED) and is characterized by unilateral asymmetric overgrowth of the epiphyseal cartilage [1]. Although the lesion is benign and does not have the potential for malignant transformation, signs and symptoms can be quite debilitating, especially if recognition is delayed for a significant period of time. The diagnosis is most frequently made during the first and second decade of life, with a marked predisposition toward male gender [1] [2] [3]. A slow-growing painless mass, most commonly located in the medial aspects of the ankle (approx 50% of all cases) or the knee, is the typical feature of trevor disease [1] [4]. Distal or proximal tibia, fibula, distal femur, talus, navicular, cuneiform, cuboid, and calcaneus are other reported sites [1] [4]. Profound reduction in mobility and functional impairment is noted, and symptoms such as swelling and wasting may accompany the lesion [2]. In severe cases, the mass can become painful, leading to marked stiffness of the joint and anisomelia [1]. However, three clinical forms have been recognized: Involvement of only one epiphysis (localized form), more than one epiphysis in the same extremity (classic form that is observed in the majority of cases); and generalized, in which the entire limb is affected by abnormal epiphyseal growth [1] [4].

Constitutional Symptom
  • She denied night pain, constitutional symptoms, or a recent history of trauma or injury.[wjgnet.com]
Skin Ulcer
  • No erythema or skin ulceration was presented at the site of the mass. Her remaining physical exam was otherwise grossly normal.[wjgnet.com]
  • (a) Clinical photograph shows skin ulceration related to the nail bed (arrow).[doi.org]
Ankle Pain
  • Biedert R (1991) Anterior ankle pain in sports medicine, etiology and indications for arthroscopy. Arch Orthop Trauma Surg 110:293–297 PubMed CrossRef Google Scholar 2. Bullough PG (2010) Orthopaedic pathology. In: Vosburgh A (ed) 5th edn.[doi.org]
  • An 11-year-old boy presented with a 2-year history of left ankle pain and abnormal gait, worsened with sports activities such as football and wrestling.[healio.com]
Joint Limitation
  • Patients with Trevor's Disease will have painless swelling or a mass on one side of the joint, limitation of motion, angular deformity, concomitant regional muscle wasting, and recurrent locking of the joint.[ctfootcare.com]
  • Patients present with painless swelling on one side of the joint, limitation of motion, angular deformity, regional muscle wasting and, occasionally, recurrent locking of the joint. [3] Radiologically, the condition shows a nonuniformity of growth and[doi.org]
Left Shoulder Pain
  • The authors report the case of a 15-year-old boy who presented with left shoulder pain and paresthesia of the left hand. Imaging studies revealed an osseous lesion compressing the C-8 nerve root.[ncbi.nlm.nih.gov]
Joint Stiffness
  • stiffness Stiff joint Stiff joints [ more ] 0001387 Osteoarthritis Degenerative joint disease 0002758 Pes planus Flat feet Flat foot [ more ] 0001763 Tarsal synostosis Fused ankle bones 0008368 30%-79% of people have these symptoms Genu valgum Knock[rarediseases.info.nih.gov]
  • The authors report the case of a 15-year-old boy who presented with left shoulder pain and paresthesia of the left hand. Imaging studies revealed an osseous lesion compressing the C-8 nerve root.[ncbi.nlm.nih.gov]
Onset in Adolescence
  • Homepage Rare diseases Search Search for a rare disease Dysplasia epiphysealis hemimelica ORPHA:1822 Synonym(s): Trevor disease Prevalence: - Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent ICD-10: Q74.8 OMIM: 127800 UMLS: C0432282[orpha.net]


Trevor disease is rarely encountered in clinical practice and its diagnosis may be difficult to obtain without a thorough workup. Patient history is important for determining the course of symptoms and their onset, whereas physical examination can note joint-related complaints and rule out other more common causes, such as trauma. Imaging studies, however, are the gold standard, and plain radiography of the affected joint or bone is a useful first-line method. In the initial stages of the disease, an irregular lesion arising from the epiphysis is observed with signs of calcification [2]. Over time, complete ossification and fusion with the underlying bone occurs, in which case distinction from other similar bone lesions (osteosarcoma, osteochondroma, and other tumors) may be difficult [2] [3]. For this reason, more advanced techniques, such as computed tomography (CT) or magnetic resonance imaging (MRI) can be employed, in order to obtain a better view of the lesion [1] [3] [5]. Biopsy and subsequent histopathological examination, frequently performed after surgical excision of the lesion, is considered to be the definite diagnostic measure that confirms trevor disease, although the numerous cartilaginous foci of endochondral ossification, which are typically detected on microscopy, are strikingly similar to osteochondroma [1].


  • Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases. Orthop Traumatol Surg Res. 2014 Dec. 100(8):941-6. [Medline].[emedicine.medscape.com]
  • Four different treatment methods were used on four different patients (three localized in hindfoot ankle region and one classic Trevor’s disease case).[doi.org]
  • Treatment depends on the deformities, symptoms, location and amount of epiphysis involvement. Asymptomatic patients require no treatment. When no deformities are identified, simple mass excision is the treatment choice.[mafiadoc.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]


  • Treatment and prognosis Surgical excision of mass with preservation of joint.[radiopaedia.org]
  • Majority of cases with ankle involvement show good prognosis following excision. Observation is also an alternative in patients who refuse surgery.[doi.org]
  • Prognosis DEH is a benign disorder, and no cases of malignant transformation have been reported.[emedicine.medscape.com]


  • The etiology is uncertain but is thought to be congenital.[radiopaedia.org]
  • Biedert R (1991) Anterior ankle pain in sports medicine, etiology and indications for arthroscopy. Arch Orthop Trauma Surg 110:293–297 PubMed CrossRef Google Scholar 2. Bullough PG (2010) Orthopaedic pathology. In: Vosburgh A (ed) 5th edn.[doi.org]
  • The etiology and pathogenesis of DEH are not known. Its origin and evolution has initially apparent similarities to the development and growth of epiphyseal secondary ossification centers.[ncbi.nlm.nih.gov]
  • The general prevalence has been reported as 1 in 1,000,000, and the etiology is unknown. This disease is nonhereditary. Most patients are first seen between the ages of 2 and 14 years, and the condition is three times more common in boys.[mirc.luriechildrens.org]


  • Epidemiology The incidence of DEH has been estimated to be 1 case per million population. It is a rare disorder both in the United States and internationally.[emedicine.medscape.com]
  • Also Known As dysplasia epiphysealis hemimelica Trevor’s disease Epidemiology Very rare Aetiology Non familial developmental disorder Benign Presentation Manifests in young children Unilateral enlargement of an epiphysis Most commonly affects lower femur[orthofracs.com]
Sex distribution
Age distribution


  • Pathophysiology and Etiology Many theories exist regarding the pathophysiology of DEH.[emedicine.medscape.com]
  • Dysplasia epiphysealis hemimelica: a case report with novel pathophysiologic aspects. Clin Orthop Relat Res. 2009; 467 :2472-2478. [ PubMed ] [ DOI ] 2. Azouz EM, Slomic AM, Marton D, Rigault P, Finidori G.[wjgnet.com]


  • Although Trevor disease is a rare entity, early recognition is important because early treatment can decrease or prevent limitation in some patients.[ncbi.nlm.nih.gov]
  • The patient underwent an open curettage and debulking of the right lateral proximal tibial lesion given its periarticular location, which prevented it from being amenable to marginal excision.[wjgnet.com]
  • Recently, early resection of the mass at initial diagnosis is recommended, even in asymptomatic children, in order to prevent later complications. During surgery, any damage of the pre-existing cartilage should be avoided.[rarediseases.org]
  • Early diagnosis and treatment are necessary to prevent articular dysfunction. Disclosure The authors report no conflicts of interest in this work. References 1. Fairbank TJ. Dysplasia epiphysialis hemimelica (tarso-ephiphysial aclasis).[dovepress.com]



  1. Baumfeld D, Pires R, Macedo B, et al. Trevor Disease (Hemimelic Epiphyseal Displasia): 12-year Follow-up Case Report and Literature Review. Ann Med Health Sci Res. 2014;4(1):S9-S13.
  2. Arealis G, Nikolaou VS, Lacon A, Ashwood N, Hayward K, Karagkevrekis C. Trevor’s Disease: A Literature Review regarding Classification, Treatment, and Prognosis apropos of a Case. Case Rep Orthop. 2014;2014:940360.
  3. Glick R, Khaldi L, Ptaszynski K, Steiner GC. Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. Hum Pathol. 2007 Aug;38(8):1265-1272.
  4. Nowicki PD, Borders H. Dysplasia epiphysealis hemimelica (Trevor disease) of the ankle. Orthopedics. 2015;38(4):216, 269-271.
  5. Ozan F, Doğar F, Gürbüz K, Ekinci Y, Bilal Ö, Öncel ES. Dysplasia epiphysealis hemimelica (Trevor disease) in the ankle. Ther Clin Risk Manag. 2016;12:545-547.

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Last updated: 2019-06-28 12:31