Fibrodisplasia ossificante progressiva: relato de caso

Abstract

Os autores descrevem um caso de fibrodisplasia ossificante progressiva, doença hereditária caracterizada por calcificações heterotópicas do tecido conectivo, geralmente induzida por trauma, gerando imobilidade permanente das articulações. Hálux valgo, clinodactilia e polegares curtos são as principais malformações congênitas associadas. Manifesta-se na infância, sendo o diagnóstico clínico-radiológico importante, pois procedimentos invasivos exacerbam a doença. Tratamentos disponíveis são apenas paliativos, tendo a prevenção relevância nesse contexto.

Fibrodysplasia ossificans progressiva-like in a cat

“…No irregularities in the phalanges or any congenital abnormalities were observed, as described for humans (Cohen et al, 1993;Campos et al, 2005).…”

“…Fibrodysplasia ossificans progressiva (FOP), also known as myositis ossificans progressiva or Münchmeyer's disease (Campos et al, 2005), is a rare disease in humans (Palhares and Leme, 2001) and animals (Guilliard, 2001;Kaplan et al, 2005;Asano et al, 2006).…”

“…It is characterized by ectopic bone formation involving fasciae, aponeuroses, ligaments, tendons, interstitial connective tissue of skeletal muscles (Palhares and Leme, 2001) and joint capsules (Araujo et al, 2005), which may or may not be induced by trauma and results in permanent muscular and articular immobility (Campos et al, 2005). Furthermore, the Recebido em 6 de novembro de 2011 Aceito em 12 de janeiro de 2012 E-mail: Crivelenti_lz@yahoo.com.br pathogenesis of FOP in humans is associated with mutations in chromosome 4q2-31 which seems to modify the expressivity of bone morphogenetic protein 4 (BMP-4), a factor which is probably involved in maintenance and expansion of ectopic ossification (Campos et al, 2005;Kan et al, 2004).…”

Cellular and morphological aspects of fibrodysplasia ossificans progressiva

“…13,30 Sites of ectopic bone formation are tendons, fascia, aponeurosis, and skeletal muscles. 17,20,31 Diaphragm, extraocular muscles, or smooth and cardiac muscles are not affected by this disorder. 20,32 The affected individual usually presents progressive ossification of connective tissue, which causes a significant limitation of osteoarticular mobility, 25,26 more commonly of the hip, knee, shoulder and elbow, 16 with the patient being locked in a single position and even being unable to sit.…”

“…17,18 In 1918, Rosenstirn conducted an extensive review of the medical literature, describing 115 cases of FOP. 14,17 The disease was first named myositis ossificans progressiva, 19,20 meaning a muscular inflammation that gradually turned into bones. However, this process affects not only muscles, but also soft parts such as articular capsules and ligaments.…”