An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report

Cureus. 2023 Aug 10;15(8):e43309. doi: 10.7759/cureus.43309. eCollection 2023 Aug.

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the gradual heterotopic ossification of soft tissues, leading to abnormal bone growth within muscles, tendons, and ligaments, due to a mutation in the ACVR1 gene. This specific case report highlights an unusual occurrence of FOP, emphasizing the diagnostic challenges and the importance of quick identification and appropriate intervention to mitigate its debilitating effects. The report also underscores the need for comprehensive genetic counseling and a multidisciplinary treatment approach, involving experts, such as orthopedic specialists, geneticists, and physical therapists, to improve the prognosis and overall well-being of those affected by FOP.

Keywords: acvr1 gene mutation; bone morphogenetic protein (bmp) signaling; fibrodysplasia ossificans progressiva; genetic disorder; heterotopic ossification.

Publication types

  • Case Reports