RESUMO
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.
Assuntos
Bioengenharia , Miosite Ossificante , Adulto , Proteínas Morfogenéticas Ósseas/fisiologia , Feminino , Humanos , Recém-Nascido , Masculino , Miosite Ossificante/diagnóstico , Miosite Ossificante/epidemiologia , Miosite Ossificante/metabolismo , Miosite Ossificante/fisiopatologia , Osteogênese/fisiologia , Transdução de Sinais/fisiologiaRESUMO
La fibrodisplasia arterial es causa poco conocida de enfermedad vascular. Presentamos un paciente que consultó por lesiones úlcero-necróticas en extremidades. La arteriografía revelaba patrón rosariforme en los vasos, los exámenes de laboratorio eran normales y la biopsia evidenció hiperplasia medial que comprometía vasos arteriales y venosos. Es el primer informe en la literatura de hiperplasia medial en arterias digitales y en vasos venosos. Resaltamos la importancia de reconocer esta patología por los diagnósticos diferenciales que plantea, en especial las vasculitis. Debemos pensar en fibrodisplasia en pacientes que consultan por episodios vasculares oclusivos, sin manifestaciones sistémicas, con exámenes de laboratorio normales y hallazgos radiológicos sugestivos.