Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease with an estimated prevalence of 1/2000000. Classic FOP is caused by a recurrent activating mutation in the gene ACVR1 / ALK2. It has an autosomal dominant transmission pattern but in most cases occurs spontaneously. (1) Pa...

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Autores principales:	Fábio Sousa, Patrícia Gomes, João Castro, Patrícia Gamelas
Formato:	article
Lenguaje:	EN PT
Publicado:	Sociedade Portuguesa de Pediatria 2021
Materias:	Pediatrics RJ1-570 Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/d2cdf669b4584f32aedfaf5710769f0b
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spelling	oai:doaj.org-article:d2cdf669b4584f32aedfaf5710769f0b2021-11-04T15:21:19ZFibrodysplasia Ossificans Progressiva2184-33332184-4453https://doaj.org/article/d2cdf669b4584f32aedfaf5710769f0b2021-11-01T00:00:00Zhttps://pjp.spp.pt/article/view/21653https://doaj.org/toc/2184-3333https://doaj.org/toc/2184-4453 Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease with an estimated prevalence of 1/2000000. Classic FOP is caused by a recurrent activating mutation in the gene ACVR1 / ALK2. It has an autosomal dominant transmission pattern but in most cases occurs spontaneously. (1) Patients with classical FOP are initially asymptomatic, presenting only characteristic congenital malformations of the great toes (1). In the first decade of life it manifests as acute sporadic episodes of painful soft tissue sweling. Although some exacerbations spontaneously regress, some develop heterotopic ossification of the affected soft tissues.(2) Over time these extra articular heterotopic formations condition the child’s mobility, having a cumulative effect, conditioning the development of thoracic insufficiency syndrome, reducing markedly life expectancy. (3) We present a case of a 13-year-old boy, born in Guinea Bissau, referred to a pediatric hospital at the age of 2, for evaluation and clinical follow-up in the context of sporadic episodes of generalized pain and dispersed swellings. He was diagnosed with FOP, with genetic testing confirmation. In the following years he had multiple sporadic episodes of painfull soft tissue swelling, which often progressed to stiffness and decreased mobility of the affected joints. The disease predominantly affected both elbows, both coxo femoral articulations and the dorsal spine. We present two images documenting the progression of the disease over the years, figure 1 and 2, we can verify ill-defined radio-opaque neoformations in the upper left limb and coxo femoral joints, and its expansion over time conditioning rigid ankylosis of the affected joints. Fábio SousaPatrícia GomesJoão CastroPatrícia GamelasSociedade Portuguesa de PediatriaarticlePediatricsRJ1-570Medicine (General)R5-920ENPTPortuguese Journal of Pediatrics , Vol 52, Iss 4 (2021)
institution	DOAJ
collection	DOAJ
language	EN PT
topic	Pediatrics RJ1-570 Medicine (General) R5-920
spellingShingle	Pediatrics RJ1-570 Medicine (General) R5-920 Fábio Sousa Patrícia Gomes João Castro Patrícia Gamelas Fibrodysplasia Ossificans Progressiva
description	Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease with an estimated prevalence of 1/2000000. Classic FOP is caused by a recurrent activating mutation in the gene ACVR1 / ALK2. It has an autosomal dominant transmission pattern but in most cases occurs spontaneously. (1) Patients with classical FOP are initially asymptomatic, presenting only characteristic congenital malformations of the great toes (1). In the first decade of life it manifests as acute sporadic episodes of painful soft tissue sweling. Although some exacerbations spontaneously regress, some develop heterotopic ossification of the affected soft tissues.(2) Over time these extra articular heterotopic formations condition the child’s mobility, having a cumulative effect, conditioning the development of thoracic insufficiency syndrome, reducing markedly life expectancy. (3) We present a case of a 13-year-old boy, born in Guinea Bissau, referred to a pediatric hospital at the age of 2, for evaluation and clinical follow-up in the context of sporadic episodes of generalized pain and dispersed swellings. He was diagnosed with FOP, with genetic testing confirmation. In the following years he had multiple sporadic episodes of painfull soft tissue swelling, which often progressed to stiffness and decreased mobility of the affected joints. The disease predominantly affected both elbows, both coxo femoral articulations and the dorsal spine. We present two images documenting the progression of the disease over the years, figure 1 and 2, we can verify ill-defined radio-opaque neoformations in the upper left limb and coxo femoral joints, and its expansion over time conditioning rigid ankylosis of the affected joints.
format	article
author	Fábio Sousa Patrícia Gomes João Castro Patrícia Gamelas
author_facet	Fábio Sousa Patrícia Gomes João Castro Patrícia Gamelas
author_sort	Fábio Sousa
title	Fibrodysplasia Ossificans Progressiva
title_short	Fibrodysplasia Ossificans Progressiva
title_full	Fibrodysplasia Ossificans Progressiva
title_fullStr	Fibrodysplasia Ossificans Progressiva
title_full_unstemmed	Fibrodysplasia Ossificans Progressiva
title_sort	fibrodysplasia ossificans progressiva
publisher	Sociedade Portuguesa de Pediatria
publishDate	2021
url	https://doaj.org/article/d2cdf669b4584f32aedfaf5710769f0b
work_keys_str_mv	AT fabiosousa fibrodysplasiaossificansprogressiva AT patriciagomes fibrodysplasiaossificansprogressiva AT joaocastro fibrodysplasiaossificansprogressiva AT patriciagamelas fibrodysplasiaossificansprogressiva
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Fibrodysplasia Ossificans Progressiva

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