Fibrodysplasia Ossificans Progressiva
Angelica R. Putnam, MD
Key Facts
Terminology
Rare disabling genetic disorder of progressive heterotopic ossification
Etiology/Pathogenesis
Heterozygous activating mutation of gene encoding activin receptor A type 1/activin-like kinase 2 (ACVR1/ALK2)
Clinical Issues
Approximately 1 in 2, 000, 000 persons
Childhood onset
No treatment exists
Microscopic Pathology
Early lesions are nodular fasciitis-like
Progressive ossification similar to that of myositis ossificans
 Plain radiograph of the left foot demonstrates a shortened 1st metatarsal  as well as a large free osseous body  that have resulted in marked hallux valgus. These features are characteristic of FOP. |
 The appearance of the lesions in fibrodysplasia ossificans progressiva is related to the duration of the lesions. This lesion was early, and it appears similar to nodular fasciitis. |
TERMINOLOGY
Abbreviations
Fibrodysplasia ossificans progressiva (FOP, FDOP)
Synonyms
Myositis ossificans progressiva, stone man disease
Definitions
Rare disabling genetic disorder of progressive heterotopic ossification
ETIOLOGY/PATHOGENESIS
Genetics
Heterozygous activating mutation of gene encoding activin receptor A type 1/activin-like kinase 2 (ACVR1/ALK2)
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