Fibrodysplasia Ossificans Progressiva: A Case Report

Rajib Chaulagain,Sandhya Joshi,Sudeep Acharya

doi:10.3126/jnhrc.v16i2.20319

Abstract

Fibrodysplasia ossificans progressiva is a genetic disorder of the connective tissue differentiation characterized by congenital malformation of the big toes and progressive heterotopic ossification in the extra skeletal tissues like tendons, ligaments, fascia and skeletal muscles leading to permanent disability. The prevalence is one in two million people. During childhood, it may be asymptomatic but in later life, progressive stiffness of major joints renders movement of the individual impossible. Currently, there is no effective treatment for this debilitating disease. Here, we present a case of 27 year old male with clinical and radiological features of fibrodysplasia ossificans progressiva.

Highlights

Fibrodysplasia ossificans progressiva (FOP) is a rare form of connective tissue disorder characterized by congenital malformation of great toes and progressive heterotopic ossifications.[1]
The disease initially appears as episodic flare-ups which later progresses into heterotrophic ossification of skeletal muscles, tendons, ligaments, fascia and aponeuroses
We report a case of fibrodysplasia ossificans progressiva in a young male

Summary

INTRODUCTION

Fibrodysplasia ossificans progressiva (FOP) is a rare form of connective tissue disorder characterized by congenital malformation of great toes (hallux valgus) and progressive heterotopic ossifications.[1]. A 27 year old male presented with a history of fall from bed and sustained trauma to his left arm followed by inability to move the extremity due to severe pain. He was asymptomatic till he was 10 years old, he experienced repeated episodes of back pain and body ache accompanied by multiple painful soft tissue masses located in the back and trunk. The lateral view X-ray of spine showed large dorso-lumbar kyphoscoliosis with ankylosis and multiple ossifications in relation to soft tissues along the lateral border of chest. The ankylosis of the mandible and the cyst was left untreated owing to his medical condition

DISCUSSION

CONCLUSIONS