Fibrodysplasia ossificans progressive. Report of a rare case

Abstract

Fibrodysplasia ossificans progressive is a rare disorder that affects the connective tissue, characterized by progressive heterotopic ossification of soft tissues that can spread to joints. We present the case of a 16-year-old female patient with 13-year long history of development of multiple masses in the nuchal, dorsal and lumbar regions associated with progressive stiffness in the neck and trunk, with prior clinical history of congenital malformation of the right hallux (Hallux valgus). There are various radiological findings in this pathology, including the deformation of shortened hallux fingers with or without absence of a phalanx, ectopic calcifications within the soft tissues, wide and shortened femoral necks, heterotopic bone formations. In this case, heterotopic ossification was observed mainly with formation in the soft tissues and ligaments. It is very important to avoid or minimize any factor that may trigger or aggravate the development of plaques, such as trauma, injections or biopsy, hence the great utility of diagnostic images in this rare disease.