Challenges in Diagnosing Fibrodysplasia Ossificans Progressiva: A Case Report.

Authors :: K S M
Gupta A
Source :: JBJS case connector [JBJS Case Connect] 2023 Oct 05; Vol. 13 (4). Date of Electronic Publication: 2023 Oct 05 (Print Publication: 2023).
Publication Year :: 2023
Abstract: Case: A 5-year-old boy presented with multiple bony swellings in the dorsal spine region, restricted left shoulder movement, and a previous misdiagnosis of hereditary multiple exostoses (HMEs) resulting in unnecessary excision of the right scapular lesion. Clinical examination revealed hallux valgus, brachydactyly, and limited neck movement. Radiography and computed tomography confirmed a diagnosis of fibrodysplasia ossificans progressiva (FOP).<br />Conclusion: This case report underscores the importance of accurate diagnosis and differentiation between FOP and HME. Hallux valgus, brachydactyly, and restricted neck movement suggested FOP. It is paramount for orthopaedic surgeons to exclude rare disorders before performing any interventions. Biopsies or resections of bone formation areas should be avoided for patients with FOP.<br />Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/C216).<br /> (Copyright © 2023 by The Journal of Bone and Joint Surgery, Incorporated.)