Miosite ossificante progressiva: uma perspectiva no controle da doença

Abstract

ResumoObjetivo: relatar quatro casos de miosite ossificante progressiva, forma de apresentação da doença e novas medidas de controle e tratamento.Descrição: os autores descrevem quatro casos de miosite ossificante progressiva. Apresentam as manifestações clínicas e evolução da doença e as formas de controle e tratamento disponíveis. Nos quatro casos são descritas as principais anomalias congênitas associadas: halux valgo, clinodactilia, polegares curtos, osteófitos e sindactilia. Descrevem-se a evolução e a resposta terapêutica de melhora clínica ao uso oral de ácido ascórbico e bifosfonado nos pacientes 1 e 4; entretanto, o paciente 1 obteve uma melhor resposta após receber bifosfonado endovenoso. Os pacientes 2 e 3 melhoraram clinicamente tomando apenas ácido ascórbico oral.Comentários: o ácido ascórbico diminui a dor e melhora o psiquismo do paciente com miosite ossificante progressiva. Bifosfonado endovenoso é uma alternativa no paciente com piora importante, principalmente com limitação de deambulação. A orientação para se evitar trauma repetitivo nos pacientes com miosite ossificante progressiva é importante.J Pediatr (Rio J) 2001; 77 (5): 431-4: miosite ossificante progressiva, ácido ascórbico, ossificação ectópica, bifosfonado. AbstractObjective: to report four cases of myositis ossificans progressiva, its form of presentation, in addition to new control and treatment options.Description: the authors describe four cases of myositis ossificans progressiva, presenting its clinical manifestations, evolution, and available forms of control and treatment. The main congenital anomalies associated with myositis ossificans progressiva are described, namely: hallux valgus, clinodactyly, short thumbs, exostosis, and syndactyly. The evolution and therapeutic responses of clinical improvement to oral ascorbic acid and biphosphonate in patients 1 and 4 are also described; patient 1 had a better response after receiving intravenous biphosphonate, while patients 2 and 3 showed clinical improvement after the administration of oral ascorbic acid.Comments: Ascorbic acid relieves the pain and improves psychism in patients with myositis ossificans progressiva. Intravenous biphosphonate is an alternative to patients with significant worsening of the disease, especially those with ambulatory restrictions. The orientation towards avoiding recurrent trauma in myositis ossificans progressiva patients is important. IntroduçãoA Miosite Ossificante Progressiva (MOP) ou Fibrodisplasia ossificante progressiva é uma doença rara, com menos de 1.000 casos descritos, autossômica dominante e com expressividade variável, mas muitos casos são esporá-dicos 1 . Foi descrita pela primeira vez por Patin 2 . A maioria dos pacientes apresenta, como peculiaridades característi-cas, altas taxas de anomalias congênitas associadas mais freqüentemente ao polegar e halux, presentes ao nascimento em 75% a 90% dos casos. Outras alterações incluem: adactilia, microdactilia, ancilose interfalangeana e clinodactilia, canal lombar estreito, ângulo úmero-epi...

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.…”

“…FOP is a rare disorder of dominant autosomal origin which manifests in connective tissue. 14,17,18 The disease is characterized by congenital malformation of the largest toes and heterotopic ossification leading to progressive immobility. 14,16 In most patients, peculiar characteristics are high rates of congenital anomalies associated more frequently with the thumb and hallux, which are present at birth in 75% to 90% of cases.…”

“…35 Although trauma is considered to be one of the acute factors leading to the disease, some episodes have been observed in which trauma was not a trigger. 17,36 The soft tissue masses coalesce, fibrose and calcify, forming bony bridges within a few weeks, 27 as shown in Figure 1 where muscle tissue is being calcified, undergoing ossification. Histologically, ectopically formed bone tissue is similar to normal bone tissue.…”

Qual o seu diagnóstico?

“…Fibrodysplasia ossificans progressiva is a condition resulting from autosomal dominant inheritance with variable expression (1) and primary involvement of the conjunctive tissue (2) . This disease is characterized by congenital malformation of the hallux and progressive heterotopic calcifications (3) , causing deformities and lifelong disability.…”