Dysplasia epiphysealis hemimelica (DEH, also known as Trevor disease) is a rare developmental disorder characterized by a benign overgrowth of the epyphisealis joint cartilage. The distal femur, proximal tibia, talus, navicular and medial cuneiform bones are most commonly involved. One single limb is usually affected, showing multiple sites of overgrowth (the bilateral involvement is exceptional). The disease mostly appears in the first decade of life (but onset has been described even in the elderly). DEH is thought to have an incidence of 1 in one million and it isn't hereditary, being its cause still unknown. Symptoms mainly consist in firm swelling or lump, usually (but not always) without pain. Malignant transformation has not been reported. For asymptomatic patients an invasive treatment may not be indicated, whereas simple periodic visits are suggested. Nevertheless, a major issue may arise from the lenght discrepancy of the lower limbs, which may not be easily addresses by the surgeon. In the extra-articular forms presenting a clear cleavage plan the lesion total exerisis is usually enough to relieve the pain, while in intra-articular forms an osteotomy may be needed to correct the deformity. Some cases of ankle localization at the talus have been reported to need an arthrodesis (a joint fixation).
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Click here for DEH X-ray images at http://emedicine.medscape.com.
References
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Freihaut RB, O'Keane JC, Stephens MM. Dysplasia epiphysealis hemimelica with associated osteochondral lesion of the talus: a case report and review of the literature. Foot Ankle Int. 2007 Jun;28(6):727-30.
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):1265-72. Epub 2007 May 8.
Golli M, Jellali MA, Hmida B, Jazaerli N, Younes M, Salem R, Hafsa C, Zrig A, Bergaoui N. [Dysplasia epiphysealis hemimelica: a rare cause of ankle pain in children].Arch Pediatr. 2009 Oct;16(10):1374-7. Epub 2009 Aug 15.
Karam AR, Birjawi GA, Saghieh S, Tawil A, Khoury NJ. Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement. Skeletal Radiol. 2008 Dec;37(12):1147-52. Epub 2008 Sep 23.
Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 127800 (last edited 25 Jun 1994)
