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  • Title: Dysplasia Epiphysealis Hemimelica in the Lower Extremity.
    Author: LaBarge ME, Shirely Z, Rodgers J, Kuhn AW, Martus JE, Riccio AI.
    Journal: J Pediatr Orthop; 2023 Jul 01; 43(6):e481-e486. PubMed ID: 36998171.
    Abstract:
    BACKGROUND: Because of the rarity of dysplasia epiphysealis hemimelica (DEH), little is known about the relationship between disease classification and clinical symptoms or patient outcomes. This studies therefore aims to characterize DEH of the lower extremity and correlate radiographic classification to presenting symptomatology and need for surgical intervention. METHODS: A multi-center, retrospective review of all patients with DEH of the lower extremity over a 47-year period was conducted. Demographic data, presenting complaints, treatments, and symptoms at final follow-up were recorded. Radiographs were reviewed to classify lesions using the Universal Classification System for Osteochondromas (UCSO) and document the presence of solitary or multiple lesions within the involved joint. Correlative statistics were used to determine whether presenting complaints, lesion location or radiographic classification predicted the need for surgery or a pain-free outcome. RESULTS: Twenty-eight patients met inclusion criteria with an average age at presentation of 7.8 years. The ankle was the most commonly affected joint with 20/28 patients (71%) having lesions of the talus, distal tibia, or distal fibula. Patients with chief complaints of pain were more likely to undergo surgery than those with complaints of a mass or deformity ( P =0.03). Ankle lesions were more likely to be managed operatively than those of the hip or knee ( P =0.018) and all 12 patients with talar lesions underwent surgery. Neither the number of lesions nor lesion classification was predictive of surgical intervention or a pain-free outcome after surgery. Patients presenting with pain were more likely to have a pain-free outcome (11/14 patients) after surgery ( P =0.023) whereas all patients presenting with deformity who underwent surgery had pain at final follow-up. CONCLUSIONS: Although no single radiographic characteristic of DEH was predictive of surgical intervention or outcome, painful lesions of the ankle, and lesions of the talus were more likely to be managed operatively. Although surgery does not always result in a pain-free outcome, the operative management of painful lesions was more likely to provide a pain-free outcome than surgery for deformity or a mass.
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