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Upper extremity involvement in Trevor disease
Journal of the Canadian Association of Radiologists
|June 1, 1984
Summary
We describe a rare case of Trevor disease (dysplasia epiphysealis hemimelica) in a young child, affecting the arm and leg. This bone growth disorder rarely involves the upper limb.
Area of Science:
- Pediatric Orthopedics
- Skeletal Dysplasias
- Medical Genetics
Background:
- Trevor disease, or dysplasia epiphysealis hemimelica (DEH), is a rare congenital disorder characterized by abnormal cartilaginous and osseous proliferation within an epiphysis.
- It typically affects the lower extremities, with upper limb involvement being exceptionally uncommon.
Observation:
- A 29-month-old female presented with symptoms indicative of Trevor disease.
- The condition involved the left humeral head and the ipsilateral lower extremity, a highly unusual presentation.
Findings:
- The patient's Trevor disease demonstrated extensive involvement of the upper limb, specifically the humeral head.
- Advanced bone age was noted in the affected left upper extremity and ipsilateral lower extremity.
Implications:
- This case highlights the variability in presentation of Trevor disease, emphasizing that upper limb involvement, though rare, can occur.
- Understanding such rare presentations is crucial for accurate diagnosis and management of skeletal dysplasias in pediatric patients.
- Further research into the genetic and developmental factors contributing to atypical Trevor disease presentations may be warranted.