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].
Entire Body System
- Developmental Disorder
Fairbank defined DEH as a developmental disorder which is confined to the medial or lateral half of an epiphysis of a single limb. [jorthoptraumatol.springeropen.com]
Dysplasia epiphysealis hemimelica (DEH) or Trevor's disease is a rare developmental disorder of asymmetric epiphyseal cartilage overgrowth accompanied by an accessory, epiphyseal ossification center. [ncbi.nlm.nih.gov]
Trevor disease, also known as Fairbank's disease and Trevor's disease, is a congenital bone developmental disorder. There is 1 case per million population. The condition is three times more common in males than in females. [en.wikipedia.org]
A dictionary of medical eponyms Related people David Trevor Thomas John Fairbank A rare congenital bone developmental disorder characterised by asymmetrical limb deformity due to localised overgrowth of cartilage, usually involving the lower extremities [whonamedit.com]
Tarso-Epiphyseal Aclasia; Dysplastic Epiphyseal Osteochondromas Abstract This is an infantile and usually monomelic developmental disorder, characterized by tumor-like osteocartilaginous masses growing from the surface of epiphyses or tarsal bones. [doi.org]
- 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]
- Surgical Procedure
If the lesion is painful, if deformity has occurred, or if joint function is limited, then surgery usually is performed. 5 Recurrence is common, however, and often more than one surgical procedure is needed. [consultant360.com]
Asymptomatic patients are just periodically followed, since malignization risk is nonexistent.[11] Surgical procedure is indicated in cases of pain, articular deformity or incongruence, or motion limitation. [mafiadoc.com]
Buckwalter performed surgical removal of the mass and the abnormal enlargement did not recur, the surgical procedure itself is not described. [eurjmedres.biomedcentral.com]
Multiple surgical procedures are often performed in these patients, with an average of 2.7 per patient in the series by Shapiro et al (, 56 ). [doi.org]
Cardiovascular
- Vascular Disease
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Skin
- Blister
Due to the foot and ankle medial protuberance, local trauma was frequent; producing skin blisters [Figure 1]. Physical examination showed rigid hindfoot valgism, blisters and medial hindfoot prominences, causing pain when touched. [mafiadoc.com]
Musculoskeletal
- Arthritis
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The book details the pathologic and radiologic characteristics of all bone and joint diseases, including arthritis, metastatic bone disease, osteoporosis, trauma, osteomyelitis, developmental bone disorders, and tumor-like lesions. [books.google.com]
[…] foot surgery 1983 Dysplasia epiphysealis hemimelica, a rare deformity of unknown etiology, is diagnosed by clinical and radiographic examination and surgery is considered the treatment of choice although surgical correction may lead to degenerative arthritis [semanticscholar.org]
If left untreated, the joint will develop degenerative arthritis. Causes The cause of DEH is unknown. There is no evidence that hereditary factors play a role in the development of the disorder. [rarediseases.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. [link.springer.com]
Answer to Radiologic Case Study Dysplasia Epiphysealis Hemimelica (Trevor Disease) of the Ankle An 11-year-old boy presented with a 2-year history of aching-type left ankle pain. [healio.com]
Case Report The present case report is about a 12‑year‑old female patient who presented medial foot and ankle pain related to recreational activities. [mafiadoc.com]
- Foot Deformity
Blog Home foot+deformities Trevor's Disease In the Foot Trevor's Disease is an extremely rare congenital bone developmental disorder that occurs in one case per million. It is three times more common in males than females. [ctfootcare.com]
Latif, DPM Connecticut Foot Care Centers Foot Deformity Doctor in CT Podiatrist in Glastonbury and Middletown, CT Visit our website, friend and like our page on Facebook, and follow my tweets on Twitter . [footdeformitiesct.blogspot.com]
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]
- 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 mass gradually hardens and becomes painful, followed by articular stiffness and anisomely.[11,16‑18] According to Fairbank findings, young patients present pain, edema and joint stiffness. [mafiadoc.com]
- 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]
Neurologic
- Confusion
It may be commonly confused with chondroblastoma, osteochondroma, or enchondroma. Trevor's Disease should be treated if the lesion is causing pain, deformity, or interference with function. [ctfootcare.com]
Very rare Aetiology Non familial developmental disorder Benign Presentation Manifests in young children Unilateral enlargement of an epiphysis Most commonly affects lower femur, upper tibia & talus If affecting the proximal femoral epiphysis can be confused [orthofracs.com]
Because Anita’s mood often fluctuates she sometimes gets aggressive or confused. Once Anita got out of bed at 2am and filled the bath with boiling water and stood in it, burning her feet. It breaks my heart to see how she has become. [england.nhs.uk]
This appears to be an unusual presentation of chondroblastoma confusing with Trevor's disease. [jpgmonline.com]
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
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]
Prognosis
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]
Etiology
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]
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]
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
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]
Hamilton rallied for a while in the second half, forcing a save from Ally Maxwell from Martin McIntosh, and it took a fine covering tackle by Boli to prevent Gary Clark from sending in a shot after the Accies man had run clear of the Rangers defence. [independent.co.uk]
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]
References
- 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.
- 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.
- 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.
- Nowicki PD, Borders H. Dysplasia epiphysealis hemimelica (Trevor disease) of the ankle. Orthopedics. 2015;38(4):216, 269-271.
- 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.