{"orpha":158676,"name":"Localized dystrophic epidermolysis bullosa, nails only","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Localized DEB, nails only"],"definition":"A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-158676/","orphanet_url":"https://www.orpha.net/en/disease/detail/158676","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique localisée, forme isolée des ongles","synonyms":["EBD localisée, forme isolée des ongles"],"definition":"Forme d'épidermolyse bulleuse dystrophique localisée, caractérisée par une dystrophie unguéale sans formation de bulles. La déformation des ongles se limite souvent aux ongles des orteils qui peuvent être épais et courts, voire absents. Aucun autre symptôme cutané ou extracutané n'est observé."},"de":{"name":"Epidermolysis bullosa, dystrophe, lokalisierte, nur Nägel","synonyms":["EBD der Nägel"],"definition":"Eine Form der lokalisierten dystrophen Epidermolysis bullosa (EBD), die durch dystrophische Nägel ohne Blasenbildung gekennzeichnet ist. Die Fehlbildung der Nägel beschränkt sich oft auf die Zehennägel, die verdickt und verkürzt erscheinen können, oder sie können ganz fehlen. Es werden keine anderen kutanen oder extrakutanen Symptome beobachtet."},"es":{"name":"Epidermólisis ampollosa distrófica localizada, sólo ungueal","synonyms":["DEB localizada, sólo ungueal","Epidermólisis bullosa distrófica localizada, sólo ungueal"],"definition":"Es una forma localizada de epidermólisis ampollosa distrófica caracterizada por uñas distróficas y que no muestra formación de ampollas. La malformación de las uñas a menudo se limita a las uñas de los pies que parecen engrosadas y acortadas, o pueden estar ausentes. No se han observado otros síntomas cutáneos o extracutáneos"},"it":{"name":"Epidermolisi bollosa distrofica localizzata limitata alle unghie","synonyms":["DEB limitata alle unghie"],"definition":"Si tratta di una forma di epidermolisi bollosa distrofica localizzata, caratterizzata da distrofia delle unghie, in assenza di vesciche. Le deformità spesso interessano solo le unghie dei piedi, che possono essere spesse e corte, oppure completamente assenti. Non si osservano altri sintomi cutanei o extracutanei."},"nl":{"name":"Gelokaliseerde dystrofische epidermolysis bullosa van uitsluitend nagels","synonyms":["Gelokaliseerde DEB van uitsluitend nagels"],"definition":"Een vorm van gelokaliseerde dystrofische epidermolysis bullosa, gekenmerkt door dystrofische nagels in afwezigheid van blaarvorming. Misvorming van de nagels is vaak beperkt tot de teennagels, die er verdikt en verkort kunnen uitzien, of afwezig kunnen zijn. Er worden geen andere cutane of extracutane symptomen waargenomen."},"pt":{"name":"Epidermólise bolhosa distrófica localizada, apenas as unhas","definition":"Forma de epidermólise bolhosa distrófica localizada, caracterizada por unhas distróficas na ausência de bolhas. A deformidade da unha é freqüentemente limitada às unhas dos pés, que podem aparecer espessadas e encurtadas ou podem estar ausentes. Não são observados outros sintomas cutâneos ou extracutâneos."},"pl":{"name":"Pęcherzowe dystroficzne oddzielanie się naskórka zlokalizowane, dotyczące tylko paznokci","synonyms":["Localized DEB, nails only"]},"cs":{"name":"Dystrofická bulózní epidermolýza s postižením nehtů","synonyms":["DEB-na","DEB s postižením nehtů"]},"uk":{"name":"Локалізований дистрофічний бульозний епідермоліз, тільки нігті","synonyms":["Локалізований ДЕБ, тільки нігті"],"definition":"A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed."},"zh":{"name":"显性营养不良大疱性表皮松解症（仅指甲）","synonyms":["仅指甲受累的DDEB"],"definition":"仅指甲受累型营养不良性大疱性表皮松解症是营养不良性大疱性表皮松解症(DEB，见该词条)的一种罕见亚型，无水泡，其特征是营养不良或指甲缺失。"},"tr":{"name":"Dominant distrofik epidermolizis bülloza, sadece tırnaklar","synonyms":["Sadece tırnakları tutan DDEB"]}},"xrefs":[{"source":"OMIM","code":"607523","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":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015553","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302547","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":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-09","source":"20301481[PMID]_11260188[PMID]","terms":[{"hpo":"HP:0001808","label":"Fragile nails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001805","label":"Onychogryphosis","frequency":"Very frequent (99-80%)","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:0040036","label":"Onychogryposis of fingernail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008401","label":"Onychogryposis of toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001802","label":"Absent toenail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Excluded (0%)","criteria":null}]}}