Dysplasia Epiphysealis Hemimelica (DEH), also known as Trevor Disease, is a rare developmental disorder that affects the growth plates in the bones. It primarily affects children and adolescents, causing abnormal growth and development of the affected bones.
ICD-10 Code: M89.8
ICD-9 Code: 732.8
DEH/Trevor Disease is characterized by the overgrowth of cartilage on the epiphysis, which is the rounded end of a long bone that forms a joint. This abnormal growth can lead to various skeletal deformities and functional impairments.
The exact cause of DEH/Trevor Disease is unknown, but it is believed to be a result of a genetic mutation that affects the regulation of bone growth. It is not inherited in a typical Mendelian pattern and often occurs sporadically.
The condition typically presents in early childhood, with symptoms varying depending on the location and severity of the affected bones. The most commonly affected areas include the lower extremities, such as the ankle, knee, or foot. However, DEH/Trevor Disease can also affect other joints, such as the wrist or elbow.
Common signs and symptoms of DEH/Trevor Disease include:
Diagnosis of DEH/Trevor Disease involves a thorough physical examination, medical history review, and imaging studies. X-rays, magnetic resonance imaging (MRI), or computed tomography (CT) scans may be used to assess the extent of bone and joint involvement.
Treatment options for DEH/Trevor Disease depend on the severity of symptoms and the impact on the individual's quality of life. In mild cases, regular monitoring and conservative management, such as physical therapy and pain management, may be sufficient.
In more severe cases, treatment options may include:
Long-term follow-up is essential for individuals with DEH/Trevor Disease, as the condition can continue to progress and cause ongoing complications. Regular monitoring of growth and joint function is necessary to address any emerging issues promptly.
While DEH/Trevor Disease is a rare condition, early diagnosis and appropriate management can significantly improve the individual's quality of life and minimize long-term complications.