Erschienen in:
28.03.2022 | Clinical Image
Fibrodysplasia (myositis) ossificans progressiva (FOP)
verfasst von:
Alfredo Ramirez-Gonzalez, Angelica Castañeda-de-la-Fuente, Vladimir Castro-Cervantes, Carlos Pineda, Hugo Sandoval, Alberto Hidalgo-Bravo
Erschienen in:
Clinical Rheumatology
|
Ausgabe 6/2022
Einloggen, um Zugang zu erhalten
Excerpt
Fibrodysplasia ossificans progressiva (FOP) — formerly named “Myositis Ossificans Progressiva” — is a rare disorder of mesodermal tissue. FOP constitutes one of the most disabling congenital skeletal anomalies, characterized by progressive heterotopic ossification (HO) affecting soft tissues (muscles, fasciae, tendons, ligaments, aponeurosis). Its estimated prevalence is 1 per 2 million. FOP has an autosomal dominant inheritance pattern; however, de novo cases prevail. Most cases explain a heterozygous missense mutation in the bone morphogenetic protein (BMP) type I receptor, activin A receptor type I (
ACVR1) gene on exon 6 (c.617G > A, p.R206H), which results in a gain of function. Based on clinical and molecular data, FOP can be classified as classic and non-classic [
1‐
3]. …
