{"orpha":89843,"name":"Dystrophic epidermolysis bullosa pruriginosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DEB pruriginosa","DEB-Pr","Pruriginous dystrophic epidermolysis bullosa"],"definition":"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-89843/","orphanet_url":"https://www.orpha.net/en/disease/detail/89843","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique prurigineuse","synonyms":["EBD prurigineuse"],"definition":"Épidermolyse bulleuse dystrophique (EBD) caractérisée par des lésions cutanées généralisées ou localisées associées à un prurit sévère si intraitable."},"de":{"name":"Epidermolysis bullosa, dystrophe pruriginöse","synonyms":["DEB-Pr","Pruriginöse DEB"],"definition":"Eine seltene Form der dystrophen Epidermolysis bullosa (DEB), die durch generalisierte oder lokalisierte Hautveränderungen mit starkem, oft anhaltendem Juckreiz gekennzeichnet ist."},"es":{"name":"Epidermólisis ampollosa distrófica pruriginosa","synonyms":["DEB pruriginosa","Epidermólisis bullosa distrófica pruriginosa"],"definition":"Es una epidermólisis ampollosa distrófica (EAD) poco frecuente caracterizada por lesiones cutáneas generalizadas o localizadas asociadas a prurito intenso o intratable."},"it":{"name":"Epidermolisi bollosa pruriginosa distrofica","synonyms":["DEB pruriginosa","DEB-Pr","Epidermolisi bollosa distrofica pruriginosa"],"definition":"Si tratta di un'epidermolisi bollosa distrofica (DEB) rara, caratterizzata da lesioni cutanee generalizzate o localizzate, associate a prurito grave o non intrattabile."},"nl":{"name":"Dystrofische epidermolysis bullosa pruriginosa","synonyms":["DEB pruriginosa","DEB-Pr","Prurigineuze dystrofische epidermolysis bullosa"],"definition":"Een zeldzame dystrofische epidermolysis bullosa (DEB), gekenmerkt door gegeneraliseerde of gelokaliseerde huidlaesies geassocieerd met ernstige, mogelijk zelfs onbehandelbare, pruritus."},"pt":{"name":"Epidermólise bolhosa pruriginosa distrófica","definition":"Epidermólise bolhosa distrófica rara (EBD) caracterizada por lesões cutâneas generalizadas ou localizadas associadas a prurido grave ou intratável."},"pl":{"name":"Pęcherzowe dystroficzne oddzielanie się naskórka, postać ze świądem","synonyms":["DEB pruriginosa","DEB-Pr","Pruriginous dystrophic epidermolysis bullosa"]},"cs":{"name":"Dystrofická epidermolysis bullosa pruriginosa","synonyms":["DEB pruriginosa","DEB-Pr","Pruriginózní dystrofická epidermolysis bullosa"]},"uk":{"name":"Дистрофічний бульозний епідермоліз пруригінозний","synonyms":["ДБЕ pruriginosa","ДБЕ-Pr","Пруригінозний дистрофічний бульозний епідермоліз"],"definition":"A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus."},"zh":{"name":"痒疹样营养不良型大疱性表皮松解症","synonyms":["痒疹样营养不良型大疱性表皮松解症"]},"tr":{"name":"Distrofik epidermolizis bülloza pruriginoza","synonyms":["DEB-Pr","DEB, pruriginosa","Prurijinöz distrofik epidermolizis bülloza"]}},"xrefs":[{"source":"OMIM","code":"604129","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC32","qualifier":"BTNT","icd_relation":"index","validated":true,"icd11_uri":"124155161"},{"source":"MONDO","code":"0011398","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563192","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275114","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":303,"name":"Dystrophic epidermolysis bullosa","classifications":[147,152,156,187,233]}],"children":[],"genes":[{"symbol":"COL7A1","name":"collagen type VII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"2214","ensembl":"ENSG00000114270","omim":"120120","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-07","source":"16965329[PMID]_25690953[PMID]_25694436[PMID]_20301481[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100725","label":"Lichenification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012221","label":"Pretibial blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200035","label":"Skin plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000152","label":"Abnormality of head or neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002973","label":"Abnormality of the forearm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003341","label":"Junctional split","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Very rare (<4-1%)","criteria":null}]}}