{"orpha":158673,"name":"Localized dystrophic epidermolysis bullosa, acral form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Localized DEB, acral form"],"definition":"A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158673/","orphanet_url":"https://www.orpha.net/en/disease/detail/158673","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique localisée, forme acrale","synonyms":["EBD localisée, forme acrale"],"definition":"Forme d'épidermolyse bulleuse dystrophique localisée, caractérisée par la formation de bulles induites par un traumatisme et limitées principalement aux mains et aux pieds. Lorsqu'elles se résorbent, les bulles donnent lieu à des grains de milium, des cicatrices atrophiques et une dystrophie des ongles. Il n'y a pas d'atteinte extracutanée."},"de":{"name":"Epidermolysis bullosa, dystrophe lokalisierte, akrale Form","synonyms":["DEB, lokalisierte, akrale Form"],"definition":"Ein Subtyp der lokalisierten dystrophen Epidermolysis bullosa, die durch eine traumabedingte Blasenbildung gekennzeichnet ist, die sich hauptsächlich auf Hände und Füße beschränkt. Die Abheilung der Blasen ist mit Milienbildung, atrophischer Narbenbildung und dystrophischen Nägeln verbunden. Es gibt keine extrakutane Beteiligung."},"es":{"name":"Epidermólisis ampollosa distrófica localizada forma acral","synonyms":["DEB localizada forma acral","Epidermólisis bullosa distrófica acral","Epidermólisis bullosa distrófica localizada forma acral"],"definition":"Es una forma de epidermólisis ampollosa distrófica localizada que se caracteriza por la formación de ampollas inducidas por traumatismos que se limitan principalmente a las manos y los pies. La curación de las ampollas está asociada con la formación de milia, cicatrización atrófica y uñas distróficas. No hay afectación extracutánea."},"it":{"name":"Epidermolisi bollosa distrofica localizzata, forma acrale","synonyms":["DEB localizzata, forma acrale"],"definition":"Si tratta di una forma di epidermolisi bollosa distrofica localizzata, caratterizzata da vesciche indotte dai traumi, localizzate prevalentemente sulle mani e sui piedi. Guarendo, le vesciche lasciano milia, cicatrici atrofiche e unghie distrofiche. Non si osserva alcun coinvolgimento extracutaneo."},"nl":{"name":"Gelokaliseerde dystrofische epidermolysis bullosa, acrale vorm","synonyms":["Gelokaliseerde DEB, acrale vorm"],"definition":"Een vorm van gelokaliseerde dystrofische epidermolysis bullosa, gekenmerkt door blaarvorming die geïnduceerd wordt door trauma en voornamelijk beperkt blijft tot handen en voeten. Genezing van blaren is geassocieerd met vorming van milia, atrofische littekens en nageldystrofie. Naast huid zijn geen andere organen betrokken."},"pt":{"name":"Epidermólise bolhosa distrófica localizada, forma acral","definition":"Forma de epidermólise bolhosa distrófica localizada, caracterizada por bolhas induzidas por trauma confinadas principalmente às mãos e pés. A cicatrização de bolhas está associada à formação de mília, cicatrizes atróficas e unhas distróficas. Não há envolvimento extracutâneo."},"pl":{"name":"Pęcherzowe dystroficzne oddzielanie się naskórka zlokalizowane, postać kończynowa","synonyms":["Dystroficzne dominujące pęcherzowe oddzielanie się naskórka kończynowe"]},"cs":{"name":"Akrálně dystrofická bulózní epidermolýza","synonyms":["DEB, akrální","DEB-ac"]},"uk":{"name":"Локалізований дистрофічний бульозний епідермоліз, акральна форма","synonyms":["Локалізований ДЕБ, акральна форма"],"definition":"A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement."},"zh":{"name":"肢端营养不良性大疱性表皮松解症","synonyms":["Localized DEB, acral form"],"definition":"一种非常罕见的营养不良性大疱性表皮松解症(DEB)，其特征是主要局限于手部和脚部的水泡。"},"tr":{"name":"Akral distrofik epidermolizis bülloza","synonyms":["Localized DEB, acral form"]}},"xrefs":[{"source":"ICD-10","code":"Q81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC32","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015552","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518087","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595356,"name":"Localized 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":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2020-10-06","source":"20301481[PMID]_11260188[PMID]_29179948[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031045","label":"Acral blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007473","label":"Crusting erythematous dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004334","label":"Dermal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002043","label":"Esophageal stricture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008390","label":"Recurrent loss of toenails and fingernails","frequency":"Occasional (29-5%)","criteria":null}]}}