{"orpha":89838,"name":"Autosomal recessive generalized epidermolysis bullosa simplex","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive generalized EBS"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-89838/","orphanet_url":"https://www.orpha.net/en/disease/detail/89838","names":{"fr":{"name":"Epidermolyse bulleuse simple généralisée autosomique récessive","synonyms":["EBS généralisée autosomique récessive"],"definition":"Epidermolyse bulleuse simple héréditaire et rare, caractérisée par la formation, pendant la période néonatale, de bulles généralisées ou, moins fréquemment, localisées au niveau acral. Des grains de milium sont rarement présents, mais on observe généralement une cicatrisation atrophique et une dystrophie unguéale, accompagnées d'une kératodermie focale (paumes des mains et plantes des pieds). Les bulles généralisées de forme sévère peuvent être à l'origine du décès du patient en période périnatale ou persister à vie. Une atteinte extracutanée est courante, à type d'anémie, de retard de croissance, d'atteintes de la cavité buccale (bulles, érosions et caries) et de constipation."},"de":{"name":"Epidermolysis bullosa simplex, generalisierte, autosomal-rezessive","synonyms":["EBS, generalisierte, autosomal-rezessive"],"definition":"Eine hereditäre Form der Epidermolysis bullosa simplex, die durch den neonatalen Beginn einer generalisierten oder, seltener, lokalisierten akralen Blasenbildung gekennzeichnet ist. Milien sind selten, aber atrophische Narbenbildung und dystrophische Nägel treten in der Regel zusammen mit fokalen Keratodermien (Handflächen und Fußsohlen) auf. Schwere generalisierte Blasenbildung kann zum perinatalen Tod führen oder ein Leben lang bestehen bleiben. Häufig kommt es zu einer extrakutanen Beteiligung, einschließlich Anämie, Wachstumsverzögerung, Anomalien in der Mundhöhle (Blasen und Erosionen sowie Karies) und Verstopfung."},"es":{"name":"Epidermólisis ampollosa simple generalizada autosómica recesiva","synonyms":["EBS generalizada autosómica recesiva","Epidermólisis bullosa simple generalizada autosómica recesiva"],"definition":"Es una epidermólisis ampollosa simple, poco frecuente y hereditaria, caracterizada por la aparición neonatal de ampollas acrales generalizadas o, con menor frecuencia, localizadas. Los milios son infrecuentes, mientras que las cicatrices atróficas y la disfrofia ungueal son comunes, junto con queratodermia focal (palmas y plantas). Las ampollas generalizadas graves pueden causar la muerte perinatal o persistir durante toda la vida. La afectación extracutánea es frecuente, e incluye anemia, retraso del crecimiento, anomalías de la cavidad oral (ampollas y erosiones, y caries) y estreñimiento."},"it":{"name":"Epidermolisi bollosa semplice generalizzata autosomica recessiva","synonyms":["EBS generalizzata autosomica recessiva"],"definition":"Si tratta di un'epidermolisi bollosa semplice ereditaria rara, che si manifesta in epoca neonatale con vesciche acrali generalizzate o, più di rado, localizzate. Le milia sono rare, ma di solito si osservano cicatrici atrofiche, distrofia delle unghie e cheratoderma focale (sul palmo delle mani e sulla pianta dei piedi). Le vesciche generalizzate gravi possono causare la morte perinatale o persistere per tutta la vita. L'interessamento extracutaneo è comune e comprende l'anemia, il ritardo della crescita, le anomalie del cavo orale (vesciche, erosioni e carie) e la costipazione."},"nl":{"name":"Autosomaal recessieve gegeneraliseerde epidermolysis bullosa simplex","synonyms":["Autosomaal recessieve gegeneraliseerde EBS"],"definition":"Een zeldzame, erfelijke epidermolysis bullosa simplex, gekenmerkt door neonatale aanvang van gegeneraliseerde of, minder frequent, gelokaliseerde acrale blaarvorming. Milia zijn zeldzaam, maar atrofische littekenvorming en dystrofische nagels komen meestal voor, samen met focale keratodermie (handpalmen en voetzolen). Ernstige gegeneraliseerde blaarvorming kan perinatale sterfte veroorzaken of levenslang aanhouden. Extracutane betrokkenheid komt vaak voor, onder meer met anemie, groeiretardatie, afwijkingen van mondholte (blaren en erosies, en cariës), en constipatie."},"pt":{"name":"Epidermólise bolhosa generalizada simples autossómica recessiva"},"pl":{"name":"Autosomalne recesywne pęcherzowe oddzielanie się naskórka, postać prosta","synonyms":["Pęcherzowe oddzielanie się naskórka, postać prosta autosomalna recesywna"]},"cs":{"name":"KRT14-vázaná epidermolysis bullosa simplex","synonyms":["EBS-AR KRT14"]},"uk":{"name":"Аутосомно-рецесивний простий генералізований бульозний епідермоліз","synonyms":["Аутосомно-рецесивний генералізований ЕБС"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation."},"zh":{"name":"单纯型大疱性表皮松解症，常染色体隐性遗传K14型","synonyms":["KRT14相关常染色体隐性遗传性单纯型大疱性表皮松解症"]},"tr":{"name":"Epidermolizis bülloza simpleks, otozomal resesif K14","synonyms":["EBS-AR KRT14","EBS, otozomal çekinik K14","KRT14-ilişkili otozomal çekinik EBS","KRT14-ilişkili otozomal çekinik epidermoliz bülloza simpleks"]}},"xrefs":[{"source":"OMIM","code":"601001","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619599","qualifier":"BTNT","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":"attributed","validated":true},{"source":"MONDO","code":"0010976","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680184","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595346,"name":"Epidermolysis bullosa simplex without extracutaneous involvement","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KRT14","name":"keratin 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"7526933[PMID]","hgnc":"6416","ensembl":"ENSG00000186847","omim":"148066","loci":["17q21.2"]},{"symbol":"KRT5","name":"keratin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31312705[PMID]_31302245[PMID]","hgnc":"6442","ensembl":"ENSG00000186081","omim":"148040","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-19","source":"18713255[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007446","label":"Palmoplantar blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","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:0001075","label":"Atrophic scars","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031464","label":"Genital blistering","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001807","label":"Ridged nail","frequency":"Occasional (29-5%)","criteria":null}]}}