{"orpha":2908,"name":"Kindler epidermolysis bullosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital bullous poikiloderma","Kindler syndrome","Poikiloderma of Kindler"],"definition":"A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2908/","orphanet_url":"https://www.orpha.net/en/disease/detail/2908","names":{"fr":{"name":"Epidermolyse bulleuse de Kindler","synonyms":["Poïkilodermie bulleuse congénitale","Poïkilodermie de Kindler","Syndrome de Kindler"],"definition":"Épidermolyse bulleuse (EB) héréditaire rare caractérisée par une fragilité cutanée et la formation de bulles cutanées à la naissance, suivie par le développement d'une photosensibilité et de changements cutanés poikilodermiques progressifs."},"de":{"name":"Kindler Epidermolysis bullosa","synonyms":["Kindler EB","Kindler-Syndrom","Kongenitale bullöse Poikilodermie","Poikilodermie Typ Kindler"],"definition":"Eine seltene Form der hereditären Epidermolysis bullosa (EB), die durch Hautbrüchigkeit und Blasenbildung bei der Geburt gekennzeichnet ist, gefolgt von der Entwicklung von Lichtempfindlichkeit und fortschreitenden poikilodermatösen Hautveränderungen."},"es":{"name":"Epidermolisis ampollosa de Kindler","synonyms":["Epidermolisis bullosa de Kindler","Poiquilodermia ampollosa congénita","Poiquilodermia de Kindler","Síndrome de Kindler"],"definition":"Es una epidermólisis ampollosa (EA) hereditaria poco frecuente caracterizada por fragilidad de la piel y formación de ampollas al nacer, seguida del desarrollo de fotosensibilidad y de cambios cutáneos poiquilodérmicos progresivos."},"it":{"name":"Epidermolisi bollosa di Kindler","synonyms":["KS","Poichilodermia bollosa congenita","Poichilodermia di Kindler","Sindrome di Kindler"],"definition":"L'epidermolisi bollosa di Kindler (KEB) è un'epidermolisi bollosa (EB) ereditaria rara, caratterizzata da fragilità cutanea e vesciche congenite, seguite da fotosensibilità e alterazioni poichilodermiche progressive della cute."},"nl":{"name":"Epidermolysis bullosa van Kindler","synonyms":["Congenitale bulleuze poikilodermie","Poikilodermie van Kindler","Syndroom van Kindler"],"definition":"Een zeldzame erfelijke epidermolysis bullosa (EB), gekenmerkt door fragiliteit van huid en blaarvorming bij de geboorte, gevolgd door ontwikkeling van lichtgevoeligheid en progressieve poikilodermische veranderingen van huid."},"pt":{"name":"Epidermólise bolhosa Kindler","synonyms":["Poiquilodermia bolhosa congénita"],"definition":"Epidermólise bolhosa (EB) hereditária rara caracterizada por fragilidade cutânea e formação de vesiculas desde o nascimento, que progride para fotossensibilidade e alterações cutâneas poiquilodermatosas progressivas."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka, zespół Kindlera","synonyms":["Poikilodermia Kindlera"]},"cs":{"name":"Kindlerové syndrom","synonyms":["KS","Kindlerové poikilodermie"]},"uk":{"name":"Бульозний епідермоліз Кіндлер","synonyms":["Вроджена бульозний пухирчастий лишай","Синдром Кіндлера","Пойкилодермія Кіндлера"],"definition":"A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes."},"zh":{"name":"金德勒综合征","synonyms":["先天性大疱皮肤异色病"]},"tr":{"name":"Kindler sendromu","synonyms":["Kindler'in Poikiloderması","Doğumsal büllöz poikiloderma"]}},"xrefs":[{"source":"OMIM","code":"173650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"726317303"},{"source":"MONDO","code":"0008260","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536321","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406557","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4391","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183490,"name":"Genetic photodermatosis","classifications":[156]},{"orpha":79361,"name":"Inherited epidermolysis bullosa","classifications":[156,187]},{"orpha":79390,"name":"Rare photodermatosis","classifications":[187]},{"orpha":717868,"name":"Rare skin disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"FERMT1","name":"FERM domain containing kindlin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22466645[PMID]","hgnc":"15889","ensembl":"ENSG00000101311","omim":"607900","loci":["20p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":250.0,"area":"Worldwide","status":"Validated","source":"26937547[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100825","label":"Cheilitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002583","label":"Colitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002043","label":"Esophageal stricture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001741","label":"Phimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004378","label":"Abnormality of the anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000656","label":"Ectropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100517","label":"Neoplasm of the urethra","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012227","label":"Urethral stricture","frequency":"Occasional (29-5%)","criteria":null}]}}