{"orpha":79406,"name":"Late-onset junctional epidermolysis bullosa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epidermolysis bullosa progressiva","JEB-lo","Late-onset JEB"],"definition":"A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79406/","orphanet_url":"https://www.orpha.net/en/disease/detail/79406","names":{"fr":{"name":"Epidermolyse bulleuse jonctionnelle à début tardif","synonyms":["EBJ à début tardif"],"definition":"Forme d'épidermolyse bulleuse jonctionnelle caractérisée par l'apparition, pendant l'enfance ou au début de l'âge adulte, de bulles initialement concentrées autour des ongles et s'accompagnant d'une dystrophie unguéale et d'une onychomadèse. Elles se développent ensuite sur les mains et les pieds et, dans une moindre mesure, sur les épaules et les genoux. Lorsqu'elles disparaissent, les bulles laissent des cicatrices atrophiques. Les autres manifestations incluent la disparition des dermatoglyphes et une hyperhidrose palmoplantaire. L'atteinte extracutanée se limite à des anomalies des tissus mous de la cavité buccale et à des anomalies de l'émail des dents associées au développement de caries."},"de":{"name":"Epidermolysis bullosa, junktionale, spät beginnende","synonyms":["Epidermolysis bullosa progressiva","JEB-lo"],"definition":"Eine Form der junktionalen Epidermolysis bullosa, die durch den Beginn der Blasenbildung in der Kindheit oder im jungen Erwachsenenalter gekennzeichnet ist. Die Blasenbildung tritt zunächst im Bereich der Nägel auf, begleitet von Nageldystrophie und -ablösung, und betrifft dann Hände und Füße und in geringerem Maße auch Ellbogen und Knie. Die Läsionen heilen mit atrophischer Narbenbildung ab. Weitere Erscheinungsformen sind das Verschwinden von Dermatoglyphen und palmoplantare Hyperhidrose. Die extrakutane Beteiligung beschränkt sich auf Weichteilanomalien in der Mundhöhle und Zahnschmelzdefekte mit Kariesentwicklung."},"es":{"name":"Epidermólisis ampollosa juntural de inicio tardío","synonyms":["Epidermólisis ampollosa progresiva","Epidermólisis bullosa juntural de inicio tardío","JEB de inicio tardío"],"definition":"Es una forma de epidermólisis ampollosa juntural caracterizada por la aparición, en la infancia o en adultos jóvenes, de ampollas que se producen inicialmente alrededor de las uñas, acompañadas de distrofia y desprendimiento de las uñas, y posteriormente afecta a manos y pies y, en menor medida, a codos y rodillas. Las lesiones se curan con cicatrices atróficas. Otras manifestaciones incluyen desaparición de dermatoglifos e hiperhidrosis palmoplantar. Las afectaciones extracutánes se limitan a anomalías de los tejidos blandos de la cavidad oral y defectos en el esmalte que producen caries."},"it":{"name":"Epidermolisi bollosa giunzionale a esordio tardivo","synonyms":["EB progressiva","JEB-lo"],"definition":"Si tratta di una forma di epidermolisi bollosa giunzionale che esordisce nell'infanzia o nella prima età adulta con vesciche che si manifestano dapprima attorno alle unghie, che appaiono distrofiche o assenti, per poi interessare le mani e i piedi e, in misura minore, i gomiti e le ginocchia. Le lesioni guariscono lasciando cicatrici atrofiche. Altri sintomi sono la scomparsa dei dermatoglifi e l'iperidrosi palmoplantare. Il coinvolgimento extracutaneo è limitato alle anomalie dei tessuti molli del cavo orale e ai difetti dello smalto con presenza di carie."},"nl":{"name":"Junctionele epidermolysis bullosa met late aanvang","synonyms":["Epidermolysis bullosa progressiva","JEB met late aanvang","JEB-lo","Laat optredende epidermolysis bullosa junctionalis"],"definition":"Een vorm van junctionele epidermolysis bullosa, gekenmerkt door aanvang in de kindertijd of jonge volwassenheid van blaarvorming die eerst optreedt rond nagels, vergezeld van dystrofie en loslating van nagels, en vervolgens handen en voeten aantast, en in mindere mate ellebogen en knieën. Laesies helen met atrofische littekenvorming. Overige manifestaties zijn onder meer verdwijnen van dermatoglyfen en palmoplantaire hyperhidrose. Extracutane betrokkenheid is beperkt tot afwijkingen van weke delen van de mondholte en defecten van tandglazuur met ontwikkeling van cariës."},"pt":{"name":"Epidermólise bolhosa juncional de início tardio","definition":"Forma de epidermólise bolhosa juncional com início na infância ou na idade adulta jovem, caracterizada por bolhas que ocorrem inicialmente ao redor das unhas, acompanhadas de distrofia ungueal e descamação, e afetam as mãos e os pés e, em menor extensão, os cotovelos e joelhos. As lesões curam com cicatrizes atróficas. Outras manifestações incluem desaparecimento de dermatoglifos e hiperidrose palmoplantar. O envolvimento extracutâneo é restrito a anomalias dos tecidos moles da cavidade oral e defeitos do esmalte com desenvolvimento de cáries."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka łączące o późnym początku","synonyms":["EB postępujące","JEB-lo"]},"cs":{"name":"Junkční epidermolysis bullosa s pozdním nástupem","synonyms":["Progresivní EB","JEB-lo"]},"uk":{"name":"Межовий бульозний епідермоліз з пізнім початком","synonyms":["Прогресуючий бульозний епідермоліз","БЕЗ-lo","БЕЗ з пізнім початком"],"definition":"A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries."},"zh":{"name":"迟发性交界型大疱性表皮松解症","synonyms":["进展性EB"]},"tr":{"name":"Geç başlangıçlı junctional epidermolizis bülloza","synonyms":["JEB-lo","EB ilerleyici"]}},"xrefs":[{"source":"OMIM","code":"619787","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1962938591"},{"source":"MONDO","code":"0019309","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304724","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":305,"name":"Junctional epidermolysis bullosa","classifications":[147,156,187]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]}],"children":[],"genes":[{"symbol":"COL17A1","name":"collagen type XVII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2194","ensembl":"ENSG00000065618","omim":"113811","loci":["10q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_24005051[PMID]"},{"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":"2020-06-19","source":"24690439[PMID]_20301304[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007455","label":"Adermatoglyphia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020117","label":"Hypoplastic dermoepidermal hemidesmosomes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012252","label":"Abnormal respiratory system morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004386","label":"Gastrointestinal inflammation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0031464","label":"Genital blistering","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004057","label":"Mitten deformity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Excluded (0%)","criteria":null}]}}