NORD gratefully acknowledges German C. Steiner, MD, Clinical Professor of Pathology, NYU School of Medicine, New York, for assistance in the preparation of this report.
Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is a raredevelopmental bone disorder of childhood. It is characterized by an abnormal overgrowth of cartilage arising from the cartilage which is normally present in the terminal ends (epiphyses) of the long bones particularly of the lower limbs. The bones of the knee and ankle joints are most commonly affected, as well as part of the foot (tarsal bones). The upper limbs are very rarely involved. The cartilage overgrowth occurs either in the medial or lateral part of the bone (hemimelic) usually medial. DEH may affect a single bone (localized form), multiple bones in a single limb (classical form) or an entire limb (generalized) usually involving a leg from the pelvis to the foot. Approximately two-thirds of affected children have multiple lesions.
DEH was first described in the medical literature in 1926. Trevor recognized this condition in 1950. The name, dysplasia epiphysealis hemimelica first appeared in the medical literature in 1956.
The most common symptom associated with DEH is a painless mass or swelling on one side of an affected joint, particularly the medial side. Pain usually occurs at a later stage of the disease.
The specific symptoms present in each child vary depending on the size and location of the cartilage mass. Additional symptoms have been reported including decreased range of motion of affected joints, joint deformity, limb length discrepancy, and muscle wasting in the affected area. Rarely, the joint may lock. Some children may limp due to damage to the affected joints of the lower limbs. As the child grows older, there is progression of the disease and the cartilage mass in the joint will increase in size and undergo ossification (osteocartilaginous mass). If left untreated, the joint will develop degenerative arthritis.
The cause of DEH is unknown. There is no evidence that hereditary factors play a role in the development of the disorder. More research is necessary to determine the exact underlying cause(s) of this disorder. DEH is benign and there are no reports of malignant transformation of the cartilage overgrowth.
DEH usually affects children between the ages of 1 and 15. Most cases are diagnosed before 8 years of age. Males are affected more often than females. The incidence of DEH has been estimated at 1 in 1,000,000 individuals in the general population. However, some authors consider that the incidence is probably higher because some cases may be misdiagnosed for other conditions.
The diagnosis of DEH is made based on a detailed patient history, and particularly the evaluation of imaging studies which include plain radiography (X-rays), computed tomography (CT) and magnetic resonance imaging (MRI). In early childhood, initial radiographs may appear normal or show minimal changes. MRI is the best technique to demonstrate the extent of epiphyseal and joint involvement of the abnormal osteocartilaginous mass. MRI can also establish the diagnosis of DEH at an early stage of the disease. Some cases show on MRI a cleavage plane or separation between the mass and the normal cartilage of the epiphysis, which is a useful finding at the time of surgery.
Once the diagnosis of DEH is made, other sites of involvement at initial presentation should be considered, and a skeletal survey is indicated. Clinical surveillance until puberty is also recommended as new lesions may appear later on.
The treatment of DEH is essentially surgical removal of the abnormal osteocartilaginous mass. Some authors have proposed surgery when the lesion produces pain and is associated with deformities of the joints. Recently, early resection of the mass at initial diagnosis is recommended, even in asymptomatic children, in order to prevent later complications. During surgery, any damage of the pre-existing cartilage should be avoided. The presence in the MRI of a cleavage or separation between the mass and the normal cartilage facilitates the removal of the abnormal tissue by the surgeon. Recurrence is unlikely, but has been reported.
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Contact for additional information about dysplasia epiphysealis hemimelica:
Dr. German C. Steiner
400 E 56th St. Apt 7N
New York, NY 10022
e-mail : email@example.com
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