Cellular and morphological aspects of fibrodysplasia ossificans progressiva

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disease that causes bone formation within the muscles, tendons, ligaments and connective tissues. There is no cure for this disorder and only treatment of the symptoms is available. The purpose of this study was to review the literature and describe the clinical, cellular and molecular aspects of FOP. The material used for the study was obtained by reviewing scientific articles published in various literature-indexed databases. In view of its rarity and of the lack of insightful information and the unpredictability of its course, FOP is a challenging disorder for professionals who are confronted by it. However, this rare disease raises a great deal of interest because understanding the mechanism of mature bone formation can encourage research lines related to bone regeneration and the prevention of heterotopic ossification.

Heterotopic ossifications responsible for early functional impairment in a patient with fibrodysplasia ossificans progressiva

“…Les ossifications extra squelettiques concernent les muscles à insertions squelettiques, les fascias, les aponévroses, les tendons et les ligaments. Elles ont toutes les caractéristiques de l'os normal dans la FOP : les organisations corticales et trabéculaires matures, la frontière corticale-endostéale bien définie qui entoure les canaux médullaires et la tunnelisation métaphysaire montrent la maturité de l'os formé [5].…”

Fibrodysplasia ossificans progressiva: current concepts from bench to bedside

“…However, there is also a debate as to whether aberrant BMP signalling is solely responsible for HO in FOP (Kan et al, 2018). Given the role of Hedgehog (Hh) signalling, mediated predominantly via Indian Hh in normal osteogenesis, especially the differentiation of chondrocytes during endochondral ossification (Martelli and Santos, 2014;Lai and Mitchell, 2005;St-Jacques et al, 1999;Long et al, 2004), it is plausible that this pathway may also contribute to HO in FOP, which has yet to be explored in detail. Similarly, the Wnt/β-catenin signalling pathway, which is thought to influence the differentiation and function of mesenchymal stem cells, chondrocytes, osteoblasts and osteoclasts during normal bone formation, may also have a role (Regard et al, 2012).…”

Cancellous bone-like tissue replacement from calcinosis in patients with systemic sclerosis with multiple external root resorption

“…Heterotopic ossification (HO) can be hereditary and classified as either fibrodysplasia ossificans progressiva (FOP) ( Martelli and Santos, 2014 ; Nakajima and Ikeya, 2019 )or progressive osseous heteroplasia (POH) ( Adegbite et al, 2008 ; Pignolo et al, 2015 ). Non-hereditary HO is acquired through trauma, including soft tissue injury, trauma or surgery, central nervous system and spinal cord injury, burns, and amputation ( Brady et al, 2018 ; Kent et al, 2018 ; Moore et al, 2016 ; Potter et al, 2007 ; Tippets et al, 2014 ; Zhu et al, 2015 ).…”