ABSTRACT
Fibrodysplasia ossificans progressiva (FOP) is a rare condition of ectopic calcification leading to increasing disability throughout life, with most patients being wheelchair bound by the age of 30. Ectopic calcification can be triggered by trauma and it is therefore important to minimize biopsies and operative procedures in affected individuals. We report a 46-year-old FOP patient who was successfully treated with radiotherapy for a basal cell carcinoma. There are no previous reports in the literature on the management of skin malignancies in these patients and very limited literature on outcome following external beam radiotherapy.
Subject(s)
Carcinoma, Basal Cell/complications , Humans , Male , Middle Aged , Myositis Ossificans/complications , Skin Neoplasms/complicationsABSTRACT
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
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.
The authors describe a case of fibrodysplasia ossificans progressiva, a hereditary disease characterized by heterotopic ossification of the connective tissues, usually triggered by trauma, resulting in permanent immobility of the joints. Hallux valgus, clinodactyly and short thumbs are the main associated congenital anomalies. Fibrodysplasia ossificans progressiva usually develops during early childhood. Clinical and radiological diagnosis is essential, since invasive procedures exacerbate the disease. Only palliative treatments are available and prevention plays an important role in patients with fibrodysplasia ossificans progressiva.
Subject(s)
Humans , Female , Child , Calcinosis , Calcinosis/etiology , Hallux Valgus , Myositis Ossificans/complications , Myositis Ossificans , Ossification, Heterotopic/complications , Ossification, Heterotopic/etiology , Muscular Diseases , Myositis Ossificans/prevention & controlABSTRACT
A fibrodisplasia ossificante progressiva é uma doença genética rara do tecido conjuntivo, caracterizada por ossificação disseminada em tecidos moles e alterações congênitas das extremidades. Sua transmissão é autossômica dominante, com penetrância completa, mas expressão variável. O início ocorre na infância e o envolvimento progressivo axial e da região proximal dos membros leva a uma conseqüente imobilização e deformação articular. Apresentamos um caso de um paciente de 22 anos de idade, do sexo masculino, com quadro clínico característico de fibrodisplasia ossificante progressiva e discutimos os últimos avanços no diagnóstico e na fisiopatogenia desta entidade.
Fibrodysplasia ossificans progressiva is a rare hereditary connective tissue disease characterized by disseminated soft tissue ossification and congenital abnormality of the extremities. It is genetically inherited as a dominant trait with complete penetrance but variable expression. The onset takes place during childhood and the progressive involvement of the spine and proximal extremities leads to immobilization and articular deformity. We report a case of a 22-year-old male patient with typical symptoms of fibrodysplasia ossificans progressiva and discuss the new advances in the diagnosis and pathophysiology.
Subject(s)
Humans , Male , Adult , Calcinosis/etiology , Myositis Ossificans/complications , Myositis Ossificans/congenital , Myositis Ossificans/pathology , Myositis Ossificans , Ossification, Heterotopic , Ossification, Heterotopic , Calcification, Physiologic , Motor Skills DisordersSubject(s)
Humans , Male , Adult , Hamartoma/surgery , Metaplasia , Ossification, Heterotopic/diagnosis , Ossification, Heterotopic/etiology , Ossification, Heterotopic/physiopathology , Colonic Polyps/surgery , Colonic Polyps/diagnosis , Colorectal Neoplasms/complications , Myositis Ossificans/complications , Neoplasm MetastasisABSTRACT
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.