About cases of fibrodysplasia ossification progressive

Abstract

Fibrodysplasia ossificans progressive is a uniquely rare autosomal dominant disease with complete penetrance that develops as a result of a spontaneous mutation in the type IA activin gene (ACVR1, ALK2), which is a bone morphogenetic protein receptor. The main manifestation of the disease is the development of heterotopic osteogenesis in "soft tissues" — subcutaneously, inter- and intramuscularly.

This report summarizes the results of an intravital pathoanatomical study of erroneously taken biopsy specimens in children of different ages. Correspondence was shown to previously published data that the development of heterotopic ossification is associated with an increase in local tissue manifestations of inflammation — infiltration by CD45, CD68, CD163 cells, immune responses — accumulation of CD3 cells. At the same time, it has been suggested that the development of bone tissue can be associated not only with the development of the process of enchondral osteogenesis, but also in a direct way — due to the direct differentiation of paravascular (adventitial) osteochondrogenic cells (stem stromal cells, multipotent mesenchymal stromal cells) into osteoblasts. The typical structure of ossificates consisting of reticulofibrous bone tissue produced by active osteoblasts and resorbed by CAII-positive giant multinucleated osteoclast cells is shown.

Keywords

progressive fibrodysplasia ossificans / FOP / bone tissue / orphan diseases / osteogenesis / heterotopia

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