Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects
Identifieur interne : 004E82 ( Main/Exploration ); précédent : 004E81; suivant : 004E83Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects
Auteurs : Robert J. Pignolo [États-Unis] ; Eileen M. Shore [États-Unis] ; Frederick S. Kaplan [États-Unis]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2011.
Descripteurs français
- KwdFr :
- Conseil génétique, Dépistage génétique, Enfant, Enfant d'âge préscolaire, Humains, Mutation, Myosite ossifiante (diagnostic), Myosite ossifiante (génétique), Myosite ossifiante (physiopathologie), Myosite ossifiante (épidémiologie), Orteils (malformations), Ossification hétérotopique (diagnostic), Ossification hétérotopique (génétique), Récepteur activine, type 1 (génétique), Récepteur activine, type 1 (métabolisme).
- MESH :
- diagnostic : Myosite ossifiante, Ossification hétérotopique.
- génétique : Myosite ossifiante, Ossification hétérotopique, Récepteur activine, type 1.
- malformations : Orteils.
- métabolisme : Récepteur activine, type 1.
- physiopathologie : Myosite ossifiante.
- épidémiologie : Myosite ossifiante.
- Conseil génétique, Dépistage génétique, Enfant, Enfant d'âge préscolaire, Humains, Mutation.
English descriptors
- KwdEn :
- Activin Receptors, Type I (genetics), Activin Receptors, Type I (metabolism), Child, Child, Preschool, Genetic Counseling, Genetic Testing, Humans, Mutation, Myositis Ossificans (diagnosis), Myositis Ossificans (epidemiology), Myositis Ossificans (genetics), Myositis Ossificans (physiopathology), Ossification, Heterotopic (diagnosis), Ossification, Heterotopic (genetics), Toes (abnormalities).
- MESH :
- chemical , genetics : Activin Receptors, Type I.
- chemical , metabolism : Activin Receptors, Type I.
- abnormalities : Toes.
- diagnosis : Myositis Ossificans, Ossification, Heterotopic.
- epidemiology : Myositis Ossificans.
- genetics : Myositis Ossificans, Ossification, Heterotopic.
- physiopathology : Myositis Ossificans.
- Child, Child, Preschool, Genetic Counseling, Genetic Testing, Humans, Mutation.
Abstract
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. The worldwide prevalence is approximately 1/2,000,000. There is no ethnic, racial, gender, or geographic predilection to FOP. Children who have FOP appear normal at birth except for congenital malformations of the great toes. 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. 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 [FOP plus], or present with major variations in one or both of the two classic defining features of FOP [FOP variants]. Classic FOP is caused by a recurrent activating mutation (617G>A; R206H) in the gene
Url:
DOI: 10.1186/1750-1172-6-80
PubMed: 22133093
PubMed Central: 3253727
Affiliations:
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Le document en format XML
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<term>Genetic Counseling</term>
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<term>Humans</term>
<term>Mutation</term>
<term>Myositis Ossificans (diagnosis)</term>
<term>Myositis Ossificans (epidemiology)</term>
<term>Myositis Ossificans (genetics)</term>
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<front><div type="abstract" xml:lang="en"><p>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. The worldwide prevalence is approximately 1/2,000,000. There is no ethnic, racial, gender, or geographic predilection to FOP. Children who have FOP appear normal at birth except for congenital malformations of the great toes. 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. 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 [FOP plus], or present with major variations in one or both of the two classic defining features of FOP [FOP variants]. Classic FOP is caused by a recurrent activating mutation (617G>A; R206H) in the gene <italic>ACVR1/ALK2 </italic>
encoding Activin A receptor type I/Activin-like kinase 2, a bone morphogenetic protein (BMP) type I receptor. Atypical FOP patients also have heterozygous <italic>ACVR1 </italic>
missense mutations in conserved amino acids. The diagnosis of FOP is made by clinical evaluation. Confirmatory genetic testing is available. Differential diagnosis includes progressive osseous heteroplasia, osteosarcoma, lymphedema, soft tissue sarcoma, desmoid tumors, aggressive juvenile fibromatosis, and non-hereditary (acquired) heterotopic ossification. Although most cases of FOP are sporadic (noninherited mutations), a small number of inherited FOP cases show germline transmission in 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, respiratory decline, and viral infections. 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.</p>
</div>
</front>
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<author><name sortKey="Feldman, Gj" uniqKey="Feldman G">GJ Feldman</name>
</author>
<author><name sortKey="Xu, M" uniqKey="Xu M">M Xu</name>
</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
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</author>
<author><name sortKey="Zasloff, M" uniqKey="Zasloff M">M Zasloff</name>
</author>
<author><name sortKey="Peeper, J" uniqKey="Peeper J">J Peeper</name>
</author>
<author><name sortKey="Cohen, Rb" uniqKey="Cohen R">RB Cohen</name>
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<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
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<author><name sortKey="Rocke, Dm" uniqKey="Rocke D">DM Rocke</name>
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<author><name sortKey="Hahn, Gv" uniqKey="Hahn G">GV Hahn</name>
</author>
<author><name sortKey="Tabas, Ja" uniqKey="Tabas J">JA Tabas</name>
</author>
<author><name sortKey="Peeper, J" uniqKey="Peeper J">J Peeper</name>
</author>
<author><name sortKey="Levitz, Cl" uniqKey="Levitz C">CL Levitz</name>
</author>
<author><name sortKey="Sando, A" uniqKey="Sando A">A Sando</name>
</author>
<author><name sortKey="Sando, N" uniqKey="Sando N">N Sando</name>
</author>
<author><name sortKey="Zasloff, M" uniqKey="Zasloff M">M Zasloff</name>
</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
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</author>
<author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
<author><name sortKey="Deirmengian, Gk" uniqKey="Deirmengian G">GK Deirmengian</name>
</author>
<author><name sortKey="Gupta, R" uniqKey="Gupta R">R Gupta</name>
</author>
<author><name sortKey="Delai, P" uniqKey="Delai P">P Delai</name>
</author>
<author><name sortKey="Morhart, P" uniqKey="Morhart P">P Morhart</name>
</author>
<author><name sortKey="Smith, R" uniqKey="Smith R">R Smith</name>
</author>
<author><name sortKey="Le Merrer, M" uniqKey="Le Merrer M">M Le Merrer</name>
</author>
<author><name sortKey="Rogers, Jg" uniqKey="Rogers J">JG Rogers</name>
</author>
<author><name sortKey="Connor, Jm" uniqKey="Connor J">JM Connor</name>
</author>
<author><name sortKey="Kitterman, Ja" uniqKey="Kitterman J">JA Kitterman</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Pignolo, Rj" uniqKey="Pignolo R">RJ Pignolo</name>
</author>
<author><name sortKey="Suda, Rk" uniqKey="Suda R">RK Suda</name>
</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
</analytic>
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</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
<author><name sortKey="Tracy, Mr" uniqKey="Tracy M">MR Tracy</name>
</author>
<author><name sortKey="O Brien, Ml" uniqKey="O Brien M">ML O'Brien</name>
</author>
<author><name sortKey="Dormans, Jp" uniqKey="Dormans J">JP Dormans</name>
</author>
<author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
<author><name sortKey="Harland, Rm" uniqKey="Harland R">RM Harland</name>
</author>
<author><name sortKey="Kusumi, K" uniqKey="Kusumi K">K Kusumi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
<author><name sortKey="Strear, Cm" uniqKey="Strear C">CM Strear</name>
</author>
<author><name sortKey="Zasloff, Ma" uniqKey="Zasloff M">MA Zasloff</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Deirmengian, Gk" uniqKey="Deirmengian G">GK Deirmengian</name>
</author>
<author><name sortKey="Hebela, Nm" uniqKey="Hebela N">NM Hebela</name>
</author>
<author><name sortKey="O Connell, M" uniqKey="O Connell M">M O'Connell</name>
</author>
<author><name sortKey="Glaser, Dl" uniqKey="Glaser D">DL Glaser</name>
</author>
<author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
</analytic>
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<biblStruct><analytic><author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
<author><name sortKey="Xu, M" uniqKey="Xu M">M Xu</name>
</author>
<author><name sortKey="Seemann, P" uniqKey="Seemann P">P Seemann</name>
</author>
<author><name sortKey="Connor, M" uniqKey="Connor M">M Connor</name>
</author>
<author><name sortKey="Glaser, Dl" uniqKey="Glaser D">DL Glaser</name>
</author>
<author><name sortKey="Carroll, L" uniqKey="Carroll L">L Carroll</name>
</author>
<author><name sortKey="Delai, P" uniqKey="Delai P">P Delai</name>
</author>
<author><name sortKey="Fastnacht Urban, E" uniqKey="Fastnacht Urban E">E Fastnacht-Urban</name>
</author>
<author><name sortKey="Forman, Sj" uniqKey="Forman S">SJ Forman</name>
</author>
<author><name sortKey="Gillessen Kaesbach, G" uniqKey="Gillessen Kaesbach G">G Gillessen-Kaesbach</name>
</author>
<author><name sortKey="Hoover Fong, J" uniqKey="Hoover Fong J">J Hoover-Fong</name>
</author>
<author><name sortKey="Koster, B" uniqKey="Koster B">B Köster</name>
</author>
<author><name sortKey="Pauli, Rm" uniqKey="Pauli R">RM Pauli</name>
</author>
<author><name sortKey="Reardon, W" uniqKey="Reardon W">W Reardon</name>
</author>
<author><name sortKey="Zaidi, S A" uniqKey="Zaidi S">S-A Zaidi</name>
</author>
<author><name sortKey="Zasloff, M" uniqKey="Zasloff M">M Zasloff</name>
</author>
<author><name sortKey="Morhart, R" uniqKey="Morhart R">R Morhart</name>
</author>
<author><name sortKey="Mundlos, S" uniqKey="Mundlos S">S Mundlos</name>
</author>
<author><name sortKey="Groppe, J" uniqKey="Groppe J">J Groppe</name>
</author>
<author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
<author><name sortKey="Glaser, Dl" uniqKey="Glaser D">DL Glaser</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Levy, Ce" uniqKey="Levy C">CE Levy</name>
</author>
<author><name sortKey="Lash, At" uniqKey="Lash A">AT Lash</name>
</author>
<author><name sortKey="Janoff, Hb" uniqKey="Janoff H">HB Janoff</name>
</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
<author><name sortKey="Xu, M" uniqKey="Xu M">M Xu</name>
</author>
<author><name sortKey="Feldman, Gj" uniqKey="Feldman G">GJ Feldman</name>
</author>
<author><name sortKey="Fenstermacher, Da" uniqKey="Fenstermacher D">DA Fenstermacher</name>
</author>
<author><name sortKey="Cho, T J" uniqKey="Cho T">T-J Cho</name>
</author>
<author><name sortKey="Choi, Ih" uniqKey="Choi I">IH Choi</name>
</author>
<author><name sortKey="Connor, Jm" uniqKey="Connor J">JM Connor</name>
</author>
<author><name sortKey="Delai, P" uniqKey="Delai P">P Delai</name>
</author>
<author><name sortKey="Glaser, Dl" uniqKey="Glaser D">DL Glaser</name>
</author>
<author><name sortKey="Le Merrer, M" uniqKey="Le Merrer M">M Le Merrer</name>
</author>
<author><name sortKey="Morhart, R" uniqKey="Morhart R">R Morhart</name>
</author>
<author><name sortKey="Rogers, Jg" uniqKey="Rogers J">JG Rogers</name>
</author>
<author><name sortKey="Smith, R" uniqKey="Smith R">R Smith</name>
</author>
<author><name sortKey="Triffitt, Jt" uniqKey="Triffitt J">JT Triffitt</name>
</author>
<author><name sortKey="Urtizberea, Ja" uniqKey="Urtizberea J">JA Urtizberea</name>
</author>
<author><name sortKey="Zasloff, M" uniqKey="Zasloff M">M Zasloff</name>
</author>
<author><name sortKey="Brown, Ma" uniqKey="Brown M">MA Brown</name>
</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Shen, Q" uniqKey="Shen Q">Q Shen</name>
</author>
<author><name sortKey="Little, Sc" uniqKey="Little S">SC Little</name>
</author>
<author><name sortKey="Xu, M" uniqKey="Xu M">M Xu</name>
</author>
<author><name sortKey="Haupt, J" uniqKey="Haupt J">J Haupt</name>
</author>
<author><name sortKey="Ast, C" uniqKey="Ast C">C Ast</name>
</author>
<author><name sortKey="Katagiri, T" uniqKey="Katagiri T">T Katagiri</name>
</author>
<author><name sortKey="Mundlos, S" uniqKey="Mundlos S">S Mundlos</name>
</author>
<author><name sortKey="Seemann, P" uniqKey="Seemann P">P Seemann</name>
</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
<author><name sortKey="Mullins, Mc" uniqKey="Mullins M">MC Mullins</name>
</author>
<author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
<author><name sortKey="Groppe, J" uniqKey="Groppe J">J Groppe</name>
</author>
<author><name sortKey="Pignolo, Rj" uniqKey="Pignolo R">RJ Pignolo</name>
</author>
<author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
<author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
<author><name sortKey="Gupta, R" uniqKey="Gupta R">R Gupta</name>
</author>
<author><name sortKey="Billings, Pc" uniqKey="Billings P">PC Billings</name>
</author>
<author><name sortKey="Glaser, Dl" uniqKey="Glaser D">DL Glaser</name>
</author>
<author><name sortKey="Pignolo, Rj" uniqKey="Pignolo R">RJ Pignolo</name>
</author>
<author><name sortKey="Graf, D" uniqKey="Graf D">D Graf</name>
</author>
<author><name sortKey="Kamoun, M" uniqKey="Kamoun M">M Kamoun</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
<author><name sortKey="Xu, M" uniqKey="Xu M">M Xu</name>
</author>
<author><name sortKey="Glaser, Dl" uniqKey="Glaser D">DL Glaser</name>
</author>
<author><name sortKey="Collins, F" uniqKey="Collins F">F Collins</name>
</author>
<author><name sortKey="Connor, M" uniqKey="Connor M">M Connor</name>
</author>
<author><name sortKey="Kitterman, J" uniqKey="Kitterman J">J Kitterman</name>
</author>
<author><name sortKey="Sillence, D" uniqKey="Sillence D">D Sillence</name>
</author>
<author><name sortKey="Zackai, E" uniqKey="Zackai E">E Zackai</name>
</author>
<author><name sortKey="Ravitsky, V" uniqKey="Ravitsky V">V Ravitsky</name>
</author>
<author><name sortKey="Zasloff, M" uniqKey="Zasloff M">M Zasloff</name>
</author>
<author><name sortKey="Ganguly, A" uniqKey="Ganguly A">A Ganguly</name>
</author>
<author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Adegbite, Ns" uniqKey="Adegbite N">NS Adegbite</name>
</author>
<author><name sortKey="Xu, M" uniqKey="Xu M">M Xu</name>
</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
<author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
<author><name sortKey="Pignolo, Rj" uniqKey="Pignolo R">RJ Pignolo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Pignolo, Rj" uniqKey="Pignolo R">RJ Pignolo</name>
</author>
<author><name sortKey="Foley, Kl" uniqKey="Foley K">KL Foley</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Nussbaum, Bl" uniqKey="Nussbaum B">BL Nussbaum</name>
</author>
<author><name sortKey="Grunwald, Z" uniqKey="Grunwald Z">Z Grunwald</name>
</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
<author><name sortKey="Zasloff, Ma" uniqKey="Zasloff M">MA Zasloff</name>
</author>
<author><name sortKey="Kitterman, Ja" uniqKey="Kitterman J">JA Kitterman</name>
</author>
<author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
<author><name sortKey="Hong, Cc" uniqKey="Hong C">CC Hong</name>
</author>
<author><name sortKey="Rocke, Dm" uniqKey="Rocke D">DM Rocke</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Pennsylvanie</li>
</region>
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<tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Pignolo, Robert J" sort="Pignolo, Robert J" uniqKey="Pignolo R" first="Robert J" last="Pignolo">Robert J. Pignolo</name>
</region>
<name sortKey="Kaplan, Frederick S" sort="Kaplan, Frederick S" uniqKey="Kaplan F" first="Frederick S" last="Kaplan">Frederick S. Kaplan</name>
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<name sortKey="Pignolo, Robert J" sort="Pignolo, Robert J" uniqKey="Pignolo R" first="Robert J" last="Pignolo">Robert J. Pignolo</name>
<name sortKey="Shore, Eileen M" sort="Shore, Eileen M" uniqKey="Shore E" first="Eileen M" last="Shore">Eileen M. Shore</name>
<name sortKey="Shore, Eileen M" sort="Shore, Eileen M" uniqKey="Shore E" first="Eileen M" last="Shore">Eileen M. Shore</name>
</country>
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</record>
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