# Fibrodysplasia Ossificans Progressiva: A Man Turned to Stone

## TL;DR

This paper presents a rare case of Fibrodysplasia Ossificans Progressiva, a genetic disorder causing abnormal bone growth, highlighting its severe progression and impact on the patient's life.

## Contribution

The paper reports the first documented case of FOP from their country, adding to the global understanding of this rare disease.

## Key findings

- The patient exhibits severe ossification affecting multiple body regions and major joints.
- Common complications include thoracic insufficiency syndrome and pneumonia, significantly impacting life expectancy.
- Management and rehabilitation remain challenging due to the progressive and disabling nature of the disease.

## Abstract

Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disorder, representing humans’ most debilitating form of extraskeletal ossification. It is characterized by progressive postnatal heterotopic ossification of connective tissue and malformations of the big toes. In FOP, ectopic ossification usually begins in the upper paraspinal muscles and then spreads from axial to appendicular regions, cranial to caudal directions, and proximal to distal sites. The mean life expectancy for these patients is typically 40-50 years. Most patients need partial or complete assistance with walking by age 30, and common causes of death include thoracic insufficiency syndrome and pneumonia. We present the case of a patient with an advanced stage of FOP, highlighting its complex and progressive nature. The patient exhibits severe impairment of jaw mobility, swallowing difficulties, speech impediments, and hearing impairment. Additionally, severe kyphoscoliosis, heterotopic ossification of intercostal and paravertebral muscles, and ankylosis of the spine and all major joints of the upper and lower extremities, except the metacarpophalangeal and proximal interphalangeal joints, are evident. We discuss disease presentation, current management options, and rehabilitation challenges. To our knowledge, this is the first reported case of this rare disease from our country.