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853 Jefferson Ave
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Podiatrist - Washington
853 Jefferson Ave
Washington, PA 15301
(724) 225-7410
(724) 225-9469 - fax

A Rare Bone Joint Disorder

Dysplasia is a rare skeletal developmental disorder that affects the bone joints. Also known as dysplasia epiphysealis hemimelica (DEH) or Trevor disease, this condition primarily affects children and adolescents.  The most common sites affected are the long bones in the hand or foot, but there are patients who develop this condition in the ankle, knee, and hip joint. It is characterized by an asymmetrical limb deformity due to an overgrowth of cartilage on the growth plate at the end of a bone. It is most commonly seen in males who are under the age of ten. 

What Causes Dysplasia?

The cause of this condition is unknown, although researcher David Trevor (the source of its common name) believes it occurs as a result of developmental problems during the early stages of fetal life. It does not appear to be genetically transmitted. There are three general categories for this condition: localized dysplasia, which only involves one bone, classic dysplasia, which affects more than one area in a single limb, and generalized dysplasia, which can impact the whole lower limb.

To diagnose this disorder, a CT scan is often used to confirm the presence of an abnormal bony enlargement, and see how it may be affecting surrounding bones, cartilage and soft tissue. This condition causes several common symptoms that can develop over time. Patients may see a visible mass, or develop swelling, aching pain, limited range of motion, deformity, locking of the joint, unequal limb length, and muscle atrophy.

The overgrowth of cartilage, often referred to as a lesion or a mass, tends to continually increase in size until the skeleton has reached full maturity. Because feet are stressed from bearing the weight of the entire body, untreated lesions there can lead to significant pain and possible arthritis

Treatment for Dysplasia

While this condition is rare, it can cause a great degree of discomfort and disability due to the nature of the condition and how it impacts the joints in a patient’s body. Each patient with dysplasia usually has unique symptoms and severity, requiring treatment to be specialized for each case. When the disorder is not causing any pain, deformity, or interference with normal functioning, treatment may simply involve observation. In cases when more aggressive action is needed, surgery is usually the best option. This involves excision or removal of the mass and correction of any deformity. A period of immobilization with a cast or splint is required after surgery, followed by physical therapy to ensure active range of motion of the joint. With children, complete removal of the mass is often not possible, which requires diligent follow-up care with physical and MRI evaluations.

Philip S. Pinkser, D.P.M strives to provide expert foot and ankle care for everything from the most common to the most rare conditions. If your child or adolescent has any of the symptoms described here or is experiencing foot or ankle pain, do not wait to contact us for diagnosis and treatment. Like many disorders, this is one that needs early intervention to prevent future complications. Call our office in Washington, PA at (724) 225-7410 to make an appointment.