How is Dysplasia Epiphysealis Hemimelica / Trevor Disease diagnosed?

Dysplasia Epiphysealis Hemimelica (DEH), also known as Trevor Disease, is a rare developmental disorder that affects the growth plates in the bones of children. It typically presents unilaterally, meaning it affects only one side of the body. DEH is characterized by abnormal growth of the cartilage in the epiphysis, which is the rounded end of a long bone that forms a joint.

Diagnosing DEH involves a combination of clinical evaluation, imaging studies, and sometimes histopathological examination. The process begins with a thorough medical history and physical examination by a healthcare professional. They will assess the affected limb for any signs of asymmetry, deformity, or limited range of motion.

Imaging studies play a crucial role in diagnosing DEH. X-rays are commonly used to visualize the affected bone and identify any abnormalities in the growth plate or joint. X-rays can reveal irregularities in the shape and size of the epiphysis, as well as any bone overgrowth or joint deformities. In some cases, additional imaging techniques such as magnetic resonance imaging (MRI) or computed tomography (CT) scans may be recommended to provide more detailed information.

In certain situations, a histopathological examination may be necessary to confirm the diagnosis. This involves taking a small tissue sample (biopsy) from the affected area and examining it under a microscope. Histopathology can help differentiate DEH from other bone disorders and provide insights into the specific changes occurring in the growth plate.

It is important to note that DEH is a rare condition and can be challenging to diagnose. The expertise of a specialized healthcare professional, such as an orthopedic surgeon or pediatric rheumatologist, is often required to accurately diagnose and manage the disease.