Intractable Rare Dis Res. 2017;6(4):242-248. (DOI: 10.5582/irdr.2017.01055)

Fibrodysplasia ossificans progressiva: Basic understanding and experimental models.

Qi ZJ, Luan J, Zhou XY, Cui YZ, Han JX


Fibrodysplasia ossificans progressive (FOP) is an extremely rare autosomal dominant disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification that can induce a disabling second skeleton. Spontaneously occurring flare-ups can cause inflammatory soft tissue to swell, followed by progressive and disabling heterotopic endochondral ossification. FOP is very rare, with an estimated incidence of one case per two million individuals. There is no definitive treatment for FOP, but the longevity of patients with FOP can be extended by early diagnosis and appropriate prevention of flares-up. Some promising treatment strategies and targets have recently been reported. The current review describes the classical phenotype and genotype of FOP, useful methods of diagnosing the condition, therapeutic approaches and commonly used drugs, and experimental models used to study this disease.

KEYWORDS: Fibrodysplasia ossificans progressive, phenotype and genotype, disease modeling, induced pluripotent stem cells

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