Dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease or tarso-epiphyseal aclasis, is a rare developmental skeletal disorder characterized by asymmetric overgrowth of cartilage affecting one or more epiphyses (the ends of long bones) on one side of the body. The condition predominantly affects the lower extremities, most commonly involving the ankle (talus), knee (distal femur or proximal tibia), and hip joints. The overgrowth typically occurs on the medial (inner) side of the affected limb, though lateral involvement has also been reported. The condition is roughly three times more common in males than females. Clinically, patients present with painless swelling or a hard mass near an affected joint, often noticed in early childhood. As the abnormal cartilaginous overgrowth progresses, it can lead to joint pain, restricted range of motion, limb length discrepancy, angular deformity (such as valgus or varus), and gait abnormalities. The disease may be classified as localized (affecting a single epiphysis), classic (involving multiple epiphyses in a single limb), or generalized (affecting an entire lower extremity). Radiographic imaging reveals irregular, lobulated ossification arising from the epiphysis, and MRI can help delineate the cartilaginous component. There is no known medical treatment for DEH. Management is primarily surgical and is indicated when the overgrowth causes pain, functional limitation, or significant deformity. Surgical excision of the osteocartilaginous mass is the standard approach, with the goal of preserving joint function and correcting alignment. Recurrence after surgery is possible, particularly in younger children with significant remaining growth. Long-term outcomes are generally favorable when the condition is identified early and managed appropriately, though secondary osteoarthritis may develop in affected joints over time.

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