FIBRODISPLASIA OSIFICANTE PROGRESIVA PDF

Fibrodysplasia ossificans progressiva. Report of one case. Chile [online]. ISSN Fibrodysplasia ossificans progressiva FOP or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Fibrodysplasia ossificans progressiva FOP is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

There is no ethnic, racial, gender, or geographic predilection to FOP. During the first decade of life, sporadic episodes of painful soft tissue swellings flare-ups occur which are often precipitated by soft tissue injury, intramuscular injections, viral infection, muscular stretching, falls or fatigue.

If diagnosis of FOP is suspected, any invasive intervention such as biopsy , which may lead to flare-ups, is contraindicated. These flare-ups transform skeletal muscles, tendons, ligaments, fascia, and aponeuroses into heterotopic bone, rendering movement impossible.

Patients with atypical forms of FOP have been described. They either present with the classic features of FOP plus one or more atypical features e.

The diagnosis of FOP is made by clinical evaluation. Plain radiographs can substantiate more subtle great toe abnormalities and the presence of heterotopic ossification. Confirmatory genetic testing is available. Differential diagnosis includes progressive osseous heteroplasia, osteosarcoma, lymphedema, soft tissue sarcoma, desmoid tumors see these terms , aggressive juvenile fibromatosis, and non-hereditary acquired heterotopic ossification. Although most cases of FOP are sporadic non-inherited mutations , a small number of inherited FOP cases show germline transmission with an autosomal dominant pattern.

At present, there is no definitive treatment, but a brief 4-day course of high-dose corticosteroids, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue edema seen in the early stages of the disease. Preventative management is based on prophylactic measures against falls e. The median lifespan is approximately 40 years of age. Most patients are wheelchair-bound by the end of the second decade of life and commonly die of complications of thoracic insufficiency syndrome.

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Disease definition Fibrodysplasia ossificans progressiva FOP is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. Diagnostic methods The diagnosis of FOP is made by clinical evaluation. Differential diagnosis Differential diagnosis includes progressive osseous heteroplasia, osteosarcoma, lymphedema, soft tissue sarcoma, desmoid tumors see these terms , aggressive juvenile fibromatosis, and non-hereditary acquired heterotopic ossification.

Antenatal diagnosis Prenatal testing is not yet routinely available. Genetic counseling Although most cases of FOP are sporadic non-inherited mutations , a small number of inherited FOP cases show germline transmission with an autosomal dominant pattern.

Management and treatment At present, there is no definitive treatment, but a brief 4-day course of high-dose corticosteroids, started within the first 24 hours of a flare-up, may help reduce the intense inflammation and tissue edema seen in the early stages of the disease. Prognosis The median lifespan is approximately 40 years of age. Detailed information Article for general public Svenska Additional information Further information on this disease Classification s 4 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s Health care resources for this disease Expert centres Diagnostic tests 24 Patient organisations 42 Orphan designation s and orphan drug s 3.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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Published studies are primarily clinical and epidemiological research but also basic. CiteScore measures average citations received per document published. Read more. SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Fibrodysplasia ossificans progressiva is the most severe and disabling disorder of ectopic ossification in humans.

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Fibrodysplasia ossificans progressiva

A rigidez os torna dependentes para atividades da vida cotidiana. World Health Organization [homepage on the Internet]. Declaration of Alma-Ata. Kaplan FS. Fibrodysplasia ossificans progressiva: an historical perspective.

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