[ XXXX ossificans progressiva. Apropos of a case].

@entity1 @entity154 @entity8482 @entity2611 @entity5323 @entity79 @entity74 @entity1576 @entity2736 @entity204 @entity1141
PURPOSE OF THE STUDY: Fibro- @entity1141 ossificans progressive is a rare @entity74 , presumably transmitted as an autosomal dominant defect. The high level of spontaneous mutations explains the sporadic cases. Pre symptomatic diagnosis could be actually evoked by the association of progressive ossification of soft tissues with @entity154 of bones (metacarpal and metatarsal). The purpose of this study is to report a clinical case with a very severe course. CASE REPORT: A 10-year-old @entity1 developed progressive ossification of muscles and soft tissues in multiple sites neck, back, shoulders, elbows, hips and knees. The clinical course was severe due to the @entity8482 and the decrease of pulmonary reserve with fixation of the chest wall. A @entity2611 facilitated the diagnosis. DISCUSSION: This pattern of @entity2736 together with the @entity2611 defines the developmental phenotype for @entity5323 ossificans. A slow course with successive thrusts occurs. Ossification progressively involves tendons, ligaments and the connective tissue of skeletal muscles. Excision of heterotopic bone is futile as the trauma of the operation can lead to the stimulation of new @entity2736 at the operative site. Surgery is only useful for biopsy and histological study reveals @entity79 . The mature heterotopic bone is histologically indistinguishable from mature skeletal bone. The non skeletic muscles are characteristically spared from ossification. @entity204 often results from @entity1576 due to fixation of the thoracic cage. The pathogenesis and the treatment of the disorder are unknown.
