Dysplasia epiphysealis hemimelica - diagnostics and treatment in pediatric patients.

BACKGROUND: Dysplasia epiphysealis hemimelica, also known as Trevor-Fairbanks disease, is a rare developmental disorder The objective of this article is to present own observations and experience in treating patients with dysplasia epiphysealis hemimelica.

MATERIAL AND METHODS: Six children with dysplasia epiphysealis hemimelica were treated in years 1990-2007. The mean age of observation was 8.5 years (from 3 to 19 years). Analysis of medical and radiological documentation of patients was performed to collect data on symptoms, disease location, management and outcomes.

RESULTS: The main symptoms reported by patients included limited range of motion of the affected joints with pain (66%) and deformed joint outline (34%). Four patients were subjected to surgical treatment while conservative treatment was applied in the other two. Lated complications were observed in two patients after surgical intervention (50%). In patients undergoing conservative treatment, one positive outcome and one negative outcome involving complete hip ankylosis, were observed.

CONCLUSIONS: Correct diagnosis is very important as it may save the patient from unnecessary surgery and, if the surgery is necessary, it may help in performing it correctly. In patients presenting with joint pains, joint deformations, and tuberous lesions in joints possibility of dysplasia epiphysealis hemimelica should be taken into account. The treatment should start with conservative treatment, particularly physical therapy applied in the region of pain. If pain, joint deformation or limited range of motion of the affected joint persist, surgical treatment consisting of complete excision of the lesion should be taken into account.