Fibrodysplasia ossificans progressiva; a case report

ABSTRACT

Fibrodysplasia ossificans progressiva is a rare and disabling genetic condition characterized by congenital malformation of the great toes and by progressive heterotopic ossification in specific anatomic patterns. It is inherited as an autosomal dominants condition with a high mutation rate. There is associated abnormality of the big toes [halux valgus] and short thumbs. There is no effective treatment for the condition. We report fibrodysplasia ossificans progressiva in a 4.5 -year-old girl with multiple palpable masses in different regions of the body [Scapular, medial aspect of the left humerus, back of the neck, and back]. We discuss the diagnosis, course and therapeutic modalities of the condition.