ABSTRACT
Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.
Subject(s)
Humans , Female , Child , Myositis Ossificans/diagnostic imaging , Prednisone/therapeutic use , Magnetic Resonance Imaging , Chile , Ossification, Heterotopic/genetics , Ossification, Heterotopic/drug therapy , Ossification, Heterotopic/diagnostic imaging , Anti-Inflammatory Agents/therapeutic use , Myositis Ossificans/genetics , Myositis Ossificans/drug therapyABSTRACT
La miositis osificante circunscrita postraumßtica es un proceso proliferativo, benigno, en el que ocurre formación metaplásica de hueso en un tejido no óseo. Se realizó la presentación de un caso con diagnóstico de miositis osificante en la región de la cadera, como complicación de un desgarro muscular. Se realizó una revisión actualizada del tema y de los métodos de diagnóstico de esta afección.
Postraumatic circumscriptus myositis ossificans is a proliferative benign process in which metaplastic formation occurs in non-osseous tissue. A case diagnosed with myositis ossificans in the hip as a complication of a muscular tear was presented. An updated literature review on this topic and the corresponding diagnosing methods was made.
La myosite ossifiante localisée post-traumatique est un processus prolifératif bénin, caractérisé par la métaplasie d'un tissu non-osseux en tissu osseux. La présentation d'un cas diagnostiqué de myosite ossifiante au niveau de la hanche, secondaire à une déchirure musculaire, est réalisée. Une revue actualisée sur cette anomalie, notamment les méthodes diagnostiques de cette condition, a été réalisée.
Subject(s)
Humans , Metaplasia , Myositis Ossificans/complications , Myositis Ossificans/diagnosis , Myositis Ossificans/drug therapyABSTRACT
A fibrodisplasia ossificante progressiva (FOP) é doença rara, autossômica dominante, caracterizada por ossificação heterotópica progressiva pós-natal do tecido conjuntivo e malformação congênita dos háluces. Relatamos o caso de menina de nove anos com o quadro clínico-radiológico típico de FOP, nascida com hálux valgo bilateral e que aos 9 anos de idade apresentou massa dolorosa, de consistência endurecida, sem sinais inflamatórios, situada na região cervical. dicionalmente, era possível observar diminuição importante da movimentação em todos os níveis da coluna vertebral e da cintura escapular. A avaliação radiológica revelou a presença de ossificações heterotópicas na região torácica e malformação bilateral dos háluces. A paciente teve outros dois surtos da doença, que foram tratados com corticosteróide oral por quatro dias, (2 mg/kg/dia) seguido por tratamento prolongado com inibidores da Cox-2 (25 mg/dia) e com inibidor de leucotrienos (10 mg/dia).
Subject(s)
Child , Female , Humans , Acetates/therapeutic use , Adrenal Cortex Hormones/therapeutic use , Leukotriene Antagonists/therapeutic use , Myositis Ossificans , Quinolines/therapeutic use , Myositis Ossificans/drug therapy , Tomography, X-Ray ComputedABSTRACT
Fibrodysplasia ossificans progressiva [FOP] is an extremely rare autosomal dominant form of connective tissue disorder, with complete penetrance and variable expression, most of cases represent new mutation. Incidence of the disease is 0.1-0.6 per million. We report a 33 month- old male Libyan child, with bilateral hallux varus and disabling heterotopic osteogenesis in predicable anatomical patterns, occurring spontaneously or after trauma, started at the neck and over time, these heterotopic formations progressed more distally and caudally with resulting restriction of neck mobility and limited movements in other anatomical areas. Therapeutic measures are essentially preventive and aimed at reducing the impact of trauma and falls and iatrogenic complications. The case is discussed with review of the literature
Subject(s)
Humans , Male , Myositis Ossificans/drug therapy , Muscles/pathologyABSTRACT
Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report on a male child followed for ten years since the age of 3 years and 9 months, when the diagnosis was made. He was born with bilateral hypoplasic hallux valgus and ventricular septal defect, corrected by transsternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared. Four crises of disease exacerbation were treated with oral prednisone and/or other antiinflammatory drugs. Sodium etidronate 5 to 10 mg/kg/day was prescribed intermittently during about six years but was discontinued due to osteopenia. The disease course has been relentless, with severe movement restriction including the chest wall. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment.
Subject(s)
Humans , Male , Adolescent , Myositis Ossificans , Etidronic Acid/therapeutic use , Follow-Up Studies , Myositis Ossificans , Myositis Ossificans/drug therapy , Technetium Tc 99m MedronateABSTRACT
Fibrodisplasia (miosite) ossificante progressiva (FOF) é doença rara, de herança autossômica dominante, na qual ocorre ossificaçäo ectópica progressiva e malformaçäo esquelética, principalmente no tecido conectivo dos músculos. O diagnóstico é baseado nos achados clínicos e demonstraçäo radiológica das malformaçöes esqueléticas. Relatamos o caso de uma menina de 5 anos de idade com FOF
Subject(s)
Humans , Female , Child, Preschool , Myositis Ossificans/pathology , Connective Tissue/abnormalities , Etidronic Acid/therapeutic use , Muscles/abnormalities , Myositis Ossificans , Myositis Ossificans/drug therapyABSTRACT
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.