# Fibrodysplasia Ossificans Progressiva: A Case Report

## TL;DR

This paper presents a case of Fibrodysplasia Ossificans Progressiva, a rare genetic disorder causing abnormal bone growth, in a 22-year-old woman.

## Contribution

The study contributes a detailed clinical case report with genetic confirmation and treatment outcomes in a young FOP patient.

## Key findings

- The patient exhibited typical FOP features including toe deformities and soft tissue ossification confirmed by imaging and ACVR1 gene mutation.
- Treatment with methylprednisolone and alendronate sodium vitamin D3 showed some therapeutic efficacy.
- Early diagnosis and comprehensive management can improve quality of life despite the lack of definitive cure.

## Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant genetic disorder characterized by congenital great toe malformations and progressive ectopic ossification. We report a typical case of FOP in a 22-year-old female patient presenting with limited movement of the left knee joint, which began following trauma in 2019. Clinical examination revealed a large mass behind the left knee, bilateral great toe deformities, and no palpable superficial lymph nodes, without systemic pain or other discomfort. Imaging and genetic testing further supported the diagnosis of FOP, demonstrating high-density ossification within soft tissues and a mutation in the ACVR1 gene. Treatment involved a combination of methylprednisolone and alendronate sodium vitamin D3 tablets, which yielded some therapeutic efficacy. The discussion emphasizes clinical diagnosis, pathogenesis, and treatment strategies for FOP, including injury prevention, rehabilitation exercises, and pharmacological interventions. Despite the lack of definitive treatment options, timely diagnosis and comprehensive management can effectively alleviate symptoms and improve the quality of life for affected individuals.