Fibrodysplasia Ossificans Progressiva with Rare Familial Inheritance Pattern: A Case Series.

ABSTRACT

Fibrodysplasia ossificans progressive (FOP)also termed as “stone man syndrome” is an autosomal dominant disorder manifested in the form of congenital malformation of the great toes with progressive ossification of the skeletal muscle and soft tissues in a specific pattern. It is a rare disorder, usually as sporadic and isolated and very few cases have been reported. Often FOP is missed or diagnosed very late, both of which leads to rapid progression and reduced life expectancy. We report first of such a case series in India with the hereditary transmission in a family, affecting 3 persons. Our index case was the first daughter 17 years female who presented with stiff joints, worsening over time and her father 45 years male was also affected with his major joints fused in different positions, and her younger sister 13 years female was in the early stage of disease. Further investigations such as serum calcium, phosphorous, X-ray, computed tomography, and bone scan confirmed it as cases of FOP. We present our detailed study of the interventions, their effectiveness, the role of drugs given to reduce symptoms in FOP, and this would aid the physicians and healthcare workers to suspect/diagnose the disease.