Edit concept Create issue ticket

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.


Presentation

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].

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]
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]
Advanced Bone Age
Foot Disease
  • Keywords: Ankle, Foot, Foot bones, Foot deformities, Foot diseases Introduction Hemimelic epiphyseal dysplasia (HED) is a rare skeletal development disorder characterized by asymmetric growth of epiphyseal cartilage.[mafiadoc.com]
Knee Effusion
  • Clinical diagnosis A right knee effusion was present as well as lateral joint line tenderness, and a firm, palpable mass protruding from the anterolateral proximal tibia was easily appreciated.[wjgnet.com]
Paresthesia
  • 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]

Workup

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].

Treatment

  • 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]
  • 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]
  • Treatment of dysplasia epiphysealis hemimelica: a systematic review of published reports and a report of seven patients. J Foot Ankle Surg 2012;51(5):620-626. Vogel T, Skuban T, Kirchhoff C, et al.[rarediseases.org]

Prognosis

  • Prognosis, Life Span? After the process of the treatment, you could go back to living your life. Since most cases of the disorders happen to infants/kids, it's easier for them to recover.[prezi.com]
  • 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]
  • Surgical prognosis is favourable when the mass is juxtaarticular or extraarticular. When the mass is intraarticular, early surgery may cause secondary osteoarthritis. References 1. Fairbank TJ.[ijpoonline.com]

Etiology

  • 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]
  • DEH is benign and its prognosis is favorable; no malignant transformation has been reported. 4 , 7 – 9 The etiology of DEH is uncertain.[dovepress.com]
  • The etiology of DEH is currently unknown, although it has been hypothesized that it is due to a defect in the regulation of cartilage proliferation. 7 The underlying pathology of DEH resembles an osteochondroma.[healio.com]
  • Italian Society of Orthopaedics and Traumatology 2008 10 :29 Springer-Verlag 2008 Received: 21 July 2008 Accepted: 14 September 2008 Published: 23 October 2008 Abstract Dysplasia epiphysealis hemimelica is a rare developmental disorder with unknown etiology[jorthoptraumatol.springeropen.com]

Epidemiology

  • 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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • 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]
  • PubMed CrossRef Google Scholar Langston JW, Irwin I, Langston EB, Forno LS (1984 b) Pargyline prevents MPTP-induced parkinsonism in primates. Science 225: 1480–1482.[link.springer.com]

References

Article

  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.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2018-06-22 11:32