ABSTRACT
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 DisordersABSTRACT
Fibrodysplasia ossificans progressiva (FOP) is a rare, congenital disorder characterized by diffuse ossification of extraskeletal connective tissue. The classical features and progression of the disease are described and three cases are presented which fall into the general pattern of FOP clinically and radiologically. A constant feature seen was a slight metaphyseal flaring with spiking at the edges of the metaphyses, compatible with minor alteration in bone morphology during growth. These changes cannot be seen after epiphyseal fusion. The major abnormalities persist into adult life.
Subject(s)
Bone and Bones/diagnostic imaging , Myositis Ossificans/diagnostic imaging , Child, Preschool , Femur Neck/diagnostic imaging , Fibula/diagnostic imaging , Humans , Infant, Newborn , Male , Myositis Ossificans/congenital , Radiography , Radius/diagnostic imaging , Ulna/diagnostic imagingABSTRACT
A case of Fibrodysplasia ossificans progressiva is presented, in which conductive hearing loss was one of the typical clinical features. The implications of hearing loss in this group of patients are discussed.
Subject(s)
Hearing Loss, Conductive/etiology , Hearing Loss/etiology , Myositis Ossificans/complications , Audiometry, Pure-Tone , Child , Female , Hearing Loss, Conductive/physiopathology , Humans , Myositis Ossificans/congenitalSubject(s)
Ossification, Heterotopic/etiology , Pseudohypoparathyroidism/complications , Pseudopseudohypoparathyroidism/complications , Skin Diseases/etiology , Adult , Facial Expression , Female , Hand , Hand Dermatoses/etiology , Humans , Myositis Ossificans/complications , Myositis Ossificans/congenital , Ossification, Heterotopic/diagnostic imaging , Radiography , Scalp/diagnostic imaging , Scalp Dermatoses/etiologyABSTRACT
Se reportan dos casos de miositis osificante progresiva con manifestaciones clínicas y malformaciones congénitas tipicas de la enfermedad........(AU)
