{"orpha":221043,"name":"Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["POIKTMP syndrome"],"definition":"Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221043/","orphanet_url":"https://www.orpha.net/en/disease/detail/221043","names":{"fr":{"name":"Syndrome de poïkilodermie héréditaire fibrosante-myopathie rétractile-fibrose pulmonaire","synonyms":["Syndrome POIKTMP"],"definition":"Poïkilodermie héréditaire rare d'origine génétique, caractérisée par une poïkilodermie précoce (affectant principalement le visage), une hypotrichose, une hypohidrose, des contractures musculaires et tendineuses avec déformation du pied en varus, une faiblesse musculaire proximale et distale progressive affectant tous les membres, et une fibrose pulmonaire progressive. D'autres symptômes de gravité variable sont un léger lymphoedème des membres, un retard de croissance, un dysfonctionnement hépatique, une insuffisance pancréatique exocrine et des troubles hématologiques."},"de":{"name":"Hereditäre fibröse Poikilodermie-Sehnenkontraktur-Myopathie-Lungenfibrose-Syndrom","synonyms":["POIKTMP-Syndrom"]},"es":{"name":"Síndrome de poiquilodermia fibrosante hereditaria-contracturas tendinosas-miopatía-fibrosis pulmonar","synonyms":["Síndrome POIKTMP"],"definition":"Es un síndrome de poiquilodermia poco frecuente, genético y hereditario, caracterizado por poiquilodermia de inicio temprano (principalmente en el rostro), hipotricosis, hipohidrosis, contracturas musculares y tendinosas, deformación del pie en varo, debilidad muscular proximal y distal progresiva en todas las extremidades, y fibrosis pulmonar progresiva. Otras características variables son linfedema leve de las extremidades, retraso en el crecimiento, insuficiencia hepática, insuficiencia pancreática exocrina y anomalías hematológicas."},"it":{"name":"Sindrome ereditaria da poichilodermia fibrosante, contratture tendinee, miopatia e fibrosi polmonare","definition":"La sindrome ereditaria che associa poichilodermia fibrosante, contratture tendinee, miopatia e fibrosi polmonare è una poichilodermia ereditaria rara, di origine genetica, caratterizzata da poichilodermia ad esordio precoce (localizzata per lo più sul viso), ipotricosi, ipoidrosi, contratture muscolari e tendinee, piede varo, debolezza progressiva dei muscoli prossimali e distali degli arti e fibrosi polmonare progressiva. Possono associarsi lievi linfedemi agli arti, ritardo della crescita, disfunzione epatica, insufficienza pancreatica esocrina ed anomalie ematologiche."},"nl":{"name":"Erfelijke fibroserende poikilodermie - peescontracturen - myopathie - longfibrose-syndroom","synonyms":["POIKTMP-syndroom"],"definition":"Erfelijke fibroserende poikilodermie - peescontracturen - myopathie - pulmonale fibrose-syndroom is een zeldzaam, genetisch, erfelijk syndroom met poikilodermie dat gekarakteriseerd wordt door vroeg aanvangende poikilodermie (voornamelijk op het gelaat), hypotrichose, hypohidrose, spier- en peescontracturen met varus voetmisvorming, progressieve zwakte van proximale en distale spieren in alle ledematen, en progressieve longfibrose. Mild lymfoedeem van de ledematen, groeiretardatie, aantasting van de lever, insufficiëntie van de exocriene pancreas, en hematologische afwijkingen zijn bijkomende variabele kenmerken."},"pt":{"name":"Síndrome de poiquilodermia fibrosante hereditária-contraturas-miopatia-fibrose pulmonar"},"pl":{"name":"Dziedziczna poikilodermia stwardniająca z przykurczami ścięgien, miopatią i zwłóknieniem płuc","synonyms":["POIKTMP syndrome"],"definition":"*Dziedziczna poikilodermia stwardniająca z przykurczami ścięgien, miopatią i zwłóknieniem płuc to rzadka, genetycznie uwarunkowana, dziedziczna poikilodermii (siateczkowata pigmentacja skóry), która charakteryzuje się poikilodermią (głównie twarzy) o wczesnym początku, niedokrwistością, nadmierną potliwością, przykurczami mięśni i ścięgien z wykształceniem stopy szpotawej, postępującym osłabieniem mięśni w odcinakch proksymalnych i dystalnych wszystkich kończyn oraz postępującym włóknieniem płuc. Dodatkowe objawy o zmiennym nasileniu obejmują obejmują łagodny obrzęk limfatyczny kończyn, opóźnienie wzrastania, zaburzenia czynności wątroby, zewnątrzwydzielniczą niewydolność trzustki oraz zaburzenia hematologiczne."},"cs":{"name":"Hereditární sklerozující poikilodermie s účastí šlach a plic","synonyms":["POIKTMP syndrome"]},"uk":{"name":"Синдром спадкової фіброзуючої пойкілодермії-сухожильних контрактур-міопатії-легеневого фіброзу","synonyms":["Синдром POIKTMP"],"definition":"Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features."},"zh":{"name":"遗传性纤维化皮肤异色病-肌腱挛缩-肌病-肺纤维化综合征","synonyms":["皮肤异色病-肌腱挛缩-肌病-肺纤维化综合征"],"definition":"遗传性纤维化皮肤异色症-肌腱挛缩-肌病-肺纤维化综合征是一种罕见的遗传性皮肤异色症综合征，其特征为早发性皮肤异色症（主要表现在面部）、多毛、多汗、肌肉和肌腱挛缩伴足内翻畸形、进行性近端和远端肌无力四肢和进行性肺纤维化。其他可变特征包括四肢轻度淋巴水肿、生长迟缓、肝脏损害、胰腺外分泌功能不全和血液学异常。"},"tr":{"name":"Kalıtsal fibrozan poikiloderma-tendon kontraktürleri-miyopati-pulmoner fibrozis sendromu","synonyms":["POIKTMP sendromu"]}},"xrefs":[{"source":"OMIM","code":"615704","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1585528459"},{"source":"MONDO","code":"0014310","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749823","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13218","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":264992,"name":"Genetic interstitial lung disease","classifications":[156]},{"orpha":222628,"name":"Hereditary poikiloderma","classifications":[156,187]},{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]},{"orpha":264740,"name":"Primary interstitial lung disease specific to adulthood","classifications":[184,233]}],"children":[],"genes":[{"symbol":"FAM111B","name":"FAM111 trypsin like peptidase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24268661[PMID]","hgnc":"24200","ensembl":"ENSG00000189057","omim":"615584","loci":["11q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26471370[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"26471370[PMID]"}],"phenotypes":null}