{"orpha":158684,"name":"Epidermolysis bullosa simplex with pyloric atresia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EBS with pyloric atresia","EBS-PA"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158684/","orphanet_url":"https://www.orpha.net/en/disease/detail/158684","names":{"fr":{"name":"Epidermolyse bulleuse simple avec atrésie du pylore","synonyms":["EBS avec atrésie du pylore","EBS-PA"],"definition":"Epidermolyse bulleuse simple héréditaire et rare, généralement létale pendant l'enfance, caractérisée par la formation de bulles généralisées de forme sévère, par l'absence congénitale de peau sur une vaste zone et par une atrésie du pylore. Pendant la période prénatale, l'atrésie du pylore peut se manifester par un polyhydramnios. En cas de survie, les patients présentent une fragilité cutanée et une dystrophie unguéale à vie. Les autres signes extracutanés incluent un retard de croissance, une anémie, une septicémie, la présence de bulles dans la cavité buccale, une hypoplasie de l'émail dentaire, une sténose urétrale et des complications urologiques."},"de":{"name":"Epidermolysis bullosa simplex mit Pylorusatresie","synonyms":["EBS-PA"],"definition":"Eine hereditäre Form der Epidermolysis bullosa simplex, die durch eine generalisierte schwere Blasenbildung mit weit verbreiteter kongenitaler Abwesenheit von Haut und Pylorusatresie gekennzeichnet ist und in der Regel im Säuglingsalter tödlich verläuft. Vorgeburtlich kann sich die Pylorusatresie mit Polyhydramnion manifestieren. Wenn die Patienten überleben, leiden sie lebenslang an Hautbrüchigkeit und Nageldystrophie. Weitere extrakutane Befunde sind Gedeihstörung, Anämie, Sepsis, intraorale Blasenbildung, Schmelzhypoplasie, Harnröhrenstenose und urologische Komplikationen."},"es":{"name":"Epidermólisis ampollosa simple con atresia pilórica","synonyms":["EBS con atresia pilórica","Epidermólisis bullosa simple con atresia pilórica"],"definition":"Es una epidermólisis ampollosa simple, poco frecuente y hereditaria, que se caracteriza por la formación de ampollas graves generalizadas con ausencia congénita de piel y atresia pilórica, que suele ser mortal en la infancia. En la etapa prenatal, la atresia pilórica puede manifestarse con polihidramnios. Si los pacientes sobreviven, sufren fragilidad cutánea y distrofia ungueal de por vida. Otros hallazgos extracutáneos incluyen fallo de medro, anemia, sepsis, ampollas intraorales, hipoplasia del esmalte, estenosis uretral y complicaciones urológicas."},"it":{"name":"Epidermolisi bollosa semplice con atresia pilorica","synonyms":["EBS con atresia pilorica","EBS-PA"],"definition":"Si tratta di un'epidermolisi bollosa semplice ereditaria rara, caratterizzata da vesciche gravi generalizzate, con agenesia congenita diffusa della cute e atresia pilorica, di solito letale nella prima infanzia. In epoca prenatale, l'atresia del piloro può manifestarsi con polidramnios. I pazienti che sopravvivono presentano fragilità della cute e distrofia delle unghie che persistono per tutta la vita. Altri sintomi extracutanei sono il ritardo della crescita, l'anemia, la sepsi, le vesciche nel cavo orale, l'ipoplasia dello smalto, la stenosi uretrale e le complicanze urologiche."},"nl":{"name":"Epidermolysis bullosa simplex met pylorusatresie","synonyms":["EBS met pylorusatresie","EBS-PA"],"definition":"Een zeldzame, erfelijke epidermolysis bullosa simplex, gekenmerkt door gegeneraliseerde ernstige blaarvorming met wijdverspreide congenitale afwezigheid van huid en pylorusatresie die meestal fataal is in de zuigelingentijd. Prenataal kan pylorusatresie zich manifesteren met polyhydramnion. Indien patiënten overleven, ervaren ze levenslang fragiliteit van de huid en nageldystrofie. Bijkomende extracutane bevindingen zijn onder meer niet-gedijen, anemie, bloedvergiftiging, intraorale blaarvorming, hypoplasie van tandglazuur, stenose van urethra, en urologische complicaties."},"pt":{"name":"Epidermólise bolhosa simples com atrésia do piloro","synonyms":["EBS-PA"],"definition":"A Epidermólise bolhosa simples com atrésia pilórica (EBS-PA) é um subtipo basal de epidermólise bolhosa simples (EBS, consulte este termo), caracterizada por formação generalizada e grave de bolhas com extensa ausência congénita de pele e atrésia pilórica."},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka z atrezją odźwiernika","synonyms":["Postać prosta pęcherzowego oddzielania się naskórka z zarośniętym odźwiernikiem"]},"cs":{"name":"Prostá bulózní epidermolýza s atrezií pyloru","synonyms":["EBS-PA"]},"uk":{"name":"Простий бульозний епідермоліз з пілоричною атрезією","synonyms":["ЕБС з атрезією пілоричного відділу шлунка","EBS-PA"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications."},"zh":{"name":"单纯性大疱性表皮松解症伴幽门闭锁","synonyms":["EBS with pyloric atresia","EBS-PA"],"definition":"单纯性大疱性表皮松解症伴幽门闭锁(EBS-PA)是单纯性大疱性表皮松解症(EBS，见该词条)的一种基本亚型，其特征是全身性严重水泡，伴广泛的先天性皮肤缺失和幽门闭锁。"},"tr":{"name":"Pilorik atrezi ile seyreden epidermolizis bülloza simpleks","synonyms":["EBS-PA"]}},"xrefs":[{"source":"OMIM","code":"612138","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC30","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1648939146"},{"source":"MONDO","code":"0012807","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567408","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677349","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595351,"name":"Epidermolysis bullosa simplex with extracutaneous involvement","classifications":[156,187]}],"children":[],"genes":[{"symbol":"ITGB4","name":"integrin subunit beta 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6158","ensembl":"ENSG00000132470","omim":"147557","loci":["17q25.1"]},{"symbol":"PLEC","name":"plectin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20052759[PMID]_20301336[PMID]","hgnc":"9069","ensembl":"ENSG00000178209","omim":"601282","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-22","source":"23289980[PMID]_31513275[PMID]_25530118[PMID]_20301336[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004399","label":"Congenital pyloric atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003341","label":"Junctional split","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007585","label":"Skin fragility with non-scarring blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000795","label":"Abnormality of the urethra","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007385","label":"Aplasia cutis congenita of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007589","label":"Aplasia cutis congenita on trunk or limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010477","label":"Aplasia of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000096","label":"Glomerulosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000075","label":"Renal duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000070","label":"Ureterocele","frequency":"Occasional (29-5%)","criteria":null}]}}