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].

• Pain

  Case report An eight-year-old male patient presented for examination one year ago with pain and swelling on the medial aspect of the right foot. [jorthoptraumatol.springeropen.com]

  No pain was elicited with palpation of the lump, and the right lower extremity showed an intact neurovascular status. [consultant360.com]

  Symptoms from DEH include restricted range of motion and pain caused by deformity of the joint involved. [clicktocurecancer.info]

  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]

  He presented with a 7-month history of pain and a bony mass (3x4 cm) at the right ankle. The mass restricted ankle dorsiflexion over the lateral malleolar area. [ncbi.nlm.nih.gov]

• Swelling

  No other swelling was found. During the examination, the size of the swelling measured at the medial foot was 4.5 × 2.5 cm. The patient had associated bilateral flatfoot. [jorthoptraumatol.springeropen.com]

  Case Report A 10 year old male child Asian Indian in origin reported to us in our outpatient department as a case of swelling over anteromedial aspect of right ankle. [ispub.com]

  Hence, during the examination of a paediatric patient with a swelling of either the medial or lateral half of a joint, or a swelling that appears bony, painless and intra articular it is necessary to include DEH in the differential diagnosis. [ijpoonline.com]

  :: Case Report A 16-year-old boy presented with pain and swelling over medial side of the left knee with the inability to extend the knee since 2 years. The swelling has slowly increased in size, especially during the past 6 months. [jpgmonline.com]

  Profound reduction in mobility and functional impairment is noted, and symptoms such as swelling and wasting may accompany the lesion. In severe cases, the mass can become painful, leading to marked stiffness of the joint and anisomelia. [symptoma.com]

• Falling

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• Asymptomatic

  Though many cases of DEH are asymptomatic, but they may be troublesome when they cause mechanical and pressure symptoms depending on the size and location. [joas.in]

  Observation is warranted if the patient is asymptomatic and an angular deformity has not occurred. [consultant360.com]

  However, this estimate may be artificially low since many cases may go unrecognized because of a similar histologic appearance to osteochondroma or because the lesion may be asymptomatic [ 10, 11 ]. [em-consulte.com]

  Though many cases of DEH are asymptomatic, but they can be troublesome when they cause mechanical and pressure symptoms depending on their size and location. [ispub.com]

  For this reason, removal of asymptomatic extra-articular lesions should be considered. The approach to intra-articular lesions has no simple algorithm. Management of this subset of lesions must be tempered. [healio.com]

• Short Stature

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  (a) Photograph of a 30-year-old patient with HME demonstrates marked forearm abnormalities and milder knee and ankle valgus deformities that result in a mild short stature. [doi.org]

  The clinical findings are short stature with disproportionate shortening of the extremities and kyphoscoliosis [ 24 ]. Fig. 6. [em-consulte.com]

• Aspiration

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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].

In those cases where articular symptoms are not present and only mass evolution is observed, surgical treatment is not recommended before skeletal maturity has been reached. [jorthoptraumatol.springeropen.com]

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 ranges in literature from simple observation of the asymptomatic lesions to surgical excision [ 4, 7, 10, 23 ]. There have been good results with non-operative treatments in the literature [ 10 ]. [em-consulte.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]

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]

The etiology of DEH is unknown. Genetic transmission is not a factor. Trevor [ 14 ] formulated the hypothesis that the disease is congenital and is related to a damage during the formation of the lower limb bud in early fetal life. [jorthoptraumatol.springeropen.com]

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. [link.springer.com]

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]

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]

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]

We describe a new surgical approach to this rare condition using a two-stage procedure consisting of intraarticular resection of the lesion followed by a modified shelf acetabuloplasty in a second stage to prevent compromise of the proximal femur vasculature [ncbi.nlm.nih.gov]

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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]

Names: Trevor disease Categories: Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. [1] [2] Early diagnosis and treatment are necessary to prevent [rarediseases.info.nih.gov]

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.