{"orpha":65748,"name":"Multiple self-healing squamous epithelioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type","Ferguson-Smith disease","MSSE","Multiple keratoacanthoma, Ferguson-Smith type","Self-healing squamous epithelioma type 1"],"definition":"Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65748/","orphanet_url":"https://www.orpha.net/en/disease/detail/65748","names":{"fr":{"name":"Epithéliome squameux multiple spontanément curable","synonyms":["Epithéliome squameux multiple à guérison spontanée de Ferguson-Smith","Kératoacanthome multiple de Ferguson-Smith","Kératoacanthome multiple familial","Maladie de Ferguson-Smith"],"definition":"Cancer rare et héréditaire de la peau, (également connu sous le nom de maladie de Ferguson-Smith ou FSD pour Ferguson-Smith disease) caractérisé par le développement de multiples tumeurs cutanées localement invasives similaires aux kératoacanthomes du visage et des membres, se résorbant généralement de manière spontanée après plusieurs mois, en laissant des cicatrices résiduelles."},"de":{"name":"Multiple selbstheilende squamöse Epitheliome","synonyms":["Epitheliome, selbstheilende squamöse, Typ 1","Familäre primäre selbstheilende squamöse Epitheliome der Haut vom Typ Ferguson-Smith","Ferguson-Smith-Krankheit","Keratoakanthome, eruptive, Typ Ferguson-Smith","MSSE"]},"es":{"name":"Epitelioma escamoso autocurativo múltiple","synonyms":["Queratoacantoma múltiple tipo Ferguson-Smith","ESS1","Enfermedad de Ferguson-Smith","Epitelioma escamoso autocurativo 1","Epitelioma escamoso autocurativo primario familiar de la piel, tipo Ferguson-Smith","MSSE"],"definition":"Es un cáncer de piel hereditario poco frecuente caracterizado por el desarrollo de múltiples tumores cutáneos localmente invasivos similares a queratoacantomas en la cara y extremidades y que, generalmente, suelen resolverse espontáneamente tras varios meses, dejando cicatrices residuales."},"it":{"name":"Epitelioma squamoso multiplo a risoluzione spontanea","synonyms":["Cheratoacantoma multiplo, tipo Ferguson-Smith","Epitelioma cutaneo squamoso primitivo familiare a guarigione spontanea, tipo Ferguson-Smith","Epitelioma squamoso a guarigione spontanea, tipo 1","MSSE","Malattia di Ferguson-Smith"],"definition":"L'epitelioma squamoso multiplo a risoluzione spontanea (noto anche come malattia di Ferguson-Smith o FSD) è una malattia neoplastica ereditaria rara della cute, caratterizzata dalla presenza di tumori cutanei multipli localmente invasivi che assomigliano ai cheratoacantomi, localizzati sul volto e sugli arti, che di solito si risolvono spontaneamente dopo alcuni mesi, lasciando cicatrici dall'aspetto butterato."},"nl":{"name":"Meervoudig zelfhelend plaveiselepithelioom","synonyms":["Familiaal primair zelfhelend plaveiselepithelioom van de huid, Ferguson-Smith-type","MSSE","Meervoudig keratoacanthoom, Ferguson-Smith-type","Zelfhelend plaveiselepithelioom type 1","Ziekte van Ferguson-Smith"],"definition":"Meervoudig zelfhelend plaveiselepithelioom (ook gekend als ziekte van Ferguson-Smith (FSD)) is een erfelijk kankersyndroom van de huid, en wordt gekarakteriseerd door de ontwikkeling van meerdere lokaal invasieve huidtumoren lijkend op keratoacanthomen aan het gelaat en de ledematen, die meestal spontaan helen na enkele maanden en putvormige littekens achterlaten."},"pt":{"name":"Epitelioma escamoso múltiplo auto-remitente","synonyms":["Doença de Ferguson-Smith","Epitelioma escamoso auto-remitente 1","MSSE","Queratoacantoma múltiplo, tipo Ferguson-Smith"]},"pl":{"name":"Mnogie samowyleczalne nabłoniaki płaskonabłonkowe","synonyms":["Choroba Fergusona i Smitha","Mnogie rogowiaki kolczystokomórkowe typu Fergusona i Smitha","MSSE","Rodzinny pierwotny samowyleczalny nabłoniak płaskonabłonkowy, typu Fergusona i Smitha","Samowyleczalny nabłoniak płaskonabłonkowy typu 1"]},"cs":{"name":"Mnohočetný sebehojící skvamózní epiteliom","synonyms":["Ferguson-Smithova choroba","MSSE","Samoúzdravný skvamózní epiteliom, typ 1","Familiární primární samoúzdravný skvamózní epiteliom kůže, Fergusonův-Smithův typ","Mnohočetný keratoakantom, Ferguson-Smithův typ","Familiární primární samoúzdravný skvamózní epiteliom kůže, Ferguson-Smithův typ"]},"uk":{"name":"Множинна плоска епітеліома, що самовідновлюється","synonyms":["Сімейна первинна плоска епітеліома шкіри, що самовідновлюється, типу Фергюсона-Сміта","Хвороба Фергюсона-Сміта","MSSE","Множинна кератоакантома, тип Фергюсона-Сміта","Самовідновлювальна плоска епітеліома типу 1"],"definition":"Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars."},"zh":{"name":"多发性自愈性鳞状上皮瘤","synonyms":["家族性原发性自愈性鳞状上皮瘤，Ferguson-Smith型"]},"tr":{"name":"Çoklu kendi kendini iyileştiren skuamöz epiteliyom","synonyms":["MSSE","Ferguson-Smith hastalığı","Kendiliğinden iyileşen skuamöz epiteliyom tip 1","çoklu keratoakantom, Ferguson-Smith tipi","Ailesel primer kendiliğinden iyileşen cilt epiteliyomu, Ferguson-Smith tipi"]}},"xrefs":[{"source":"OMIM","code":"132800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D48.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2C31.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1434188859"},{"source":"MONDO","code":"0007566","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0546476","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3090","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[{"symbol":"TGFBR1","name":"transforming growth factor beta receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21358634[PMID]","hgnc":"11772","ensembl":"ENSG00000106799","omim":"190181","loci":["9q22.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24747516[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"24747516[PMID]"}],"phenotypes":null}