RESUMO
Dysplasia epiphysealis hemimelica, also known as Trevor’s disease, is an extremely rare skeletal developmental disorder of unknown etiology, characterized by an osteocartilaginous outgrowth of one or more epiphyses or of a tarsal bone during childhood. It is a rare skeletal hemimelica disorder characterized by asymmetric growth of cartilage in one or more epiphyses. Due to the unusual presentation and variability of the picture, there is no standardized treatment and outcome is very different. Also such an unusual, unique case with craniofacial manifestations has not been reported in the literature. We report a case of a 14-year-old male, who complained of irregularly placed teeth in upper and lower front teeth region. On general physical examination we noticed some skeletal abnormalities with the patient and hence we subjected him to radiographic investigations. The images were consistent with epiphyseal dysplasia hemimelica. The prognosis of DEH is variable and depends basically on its location and size. Carriers of this unusual dysplasia should be periodically monitored for the risk of recurrence.
RESUMO
Se presentó un caso de tibia vara del miembro inferior izquierdo en un niño de ocho años de edad debido a displasia epifisariahemimélica (enfermedad de Trevor), confirmándose el diagnóstico mediante estudios radiológicos. Se exponen los hallazgos clínicos y radiológicos, así como el tratamiento quirúrgico que se realizó. Se señala cuán importante es tomar siempre en consideración la infrecuente enfermedad de Trevor como posibilidad diagnóstica ante la presencia de tibias varas, así como tener presente que los osteocondromas que son tan frecuentes podrían encontrarse formando parte de la enfermedad de Trevor aun en ausencia de deformidad.
We present the case of varus tibia of the left low limb in a male child aged 8 years due to hemimelic epiphyseal dysplasia (Trevor's disease), confirming the diagnose by radiologic studies. We expose the clinical and radiological findings, and also the carried out surgical treatment. We point out how important is taking into account the infrequent Trevor´s disease as a diagnostic possibility in the presence of varus tibias and also that the so frequent osteochondromas might be part of the Trevor´s disease even in the absence of deformities.
RESUMO
Dysplasia epiphysealis hemimelica is a rare benign disease (incidence 1:1,000,000), characterized by an osteochondral overgrowth affecting one or more epiphyses. Generally, the age of onset is between two and 14 years. The characteristic imaging findings are sufficient for the diagnosis. Surgical excision of the lesion is only indicated in cases where a functional limitation is present.
A displasia epifisária hemimélica é uma doença benigna rara (incidência de 1:1.000.000), caracterizada por um crescimento osteocondral decorrente de uma ou mais epífises. Em geral a idade de início é entre 2 e 14 anos. Os achados característicos dos exames de imagem são suficientes para o diagnóstico. A excisão cirúrgica da lesão só é indicada caso haja limitação funcional.