{"orpha":79405,"name":"Junctional epidermolysis bullosa inversa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["JEB inversa","JEB-I"],"definition":"A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79405/","orphanet_url":"https://www.orpha.net/en/disease/detail/79405","names":{"fr":{"name":"Epidermolyse bulleuse jonctionnelle inversée","synonyms":["EBJ inversée","EBJ-I"],"definition":"Forme intermédiaire rare d'épidermolyse bulleuse jonctionnelle, caractérisée par la formation congénitale de bulles et par des érosions limitées aux zones intertrigineuses, à l'oesophage, à l'aine et au périnée. L'atteinte bulleuse est habituellement sévère et, lorsqu'elles se résorbent, les lésions donnent lieu à des grains de milium et à des cicatrices atrophiques. Les manifestations extracutanées incluent : dystrophie unguéale, hypoplasie de l'émail des dents et caries, bulles et érosions au niveau de la cavité buccale, de l'oesophage et du vagin."},"de":{"name":"Epidermolysis bullosa inversa, junktionale","synonyms":["EBJ-I","JEB inversa","JEB-I"],"definition":"Eine seltene intermediäre Form der Epidermolysis bullosa junctionalis, die durch angeborene Blasenbildung und Erosionen gekennzeichnet ist, die auf intertriginöse Hautstellen, die Speiseröhre, die Leistengegend und das Perineum beschränkt sind. Die Blasenbildung ist in der Regel schwer und die Läsionen können mit atrophischer Narbenbildung und Milienbildung abheilen. Zu den extrakutanen Manifestationen gehören Nageldystrophie, Zahnschmelzhypoplasie und Zahnkaries, Blasen und Erosionen im Mund, in der Speiseröhre und in der Scheide."},"es":{"name":"Epidermólisis ampollosa juntural inversa","synonyms":["Epidermólisis bullosa juntural inversa","JEB inversa"],"definition":"Es una forma intermedia y poco frecuente de epidermólisis ampollosa juntural caracterizada por la formación de ampollas congénitas y erosiones limitadas a las zonas de la piel intertriginosas, el esófago y el perineo. Las ampollas suelen ser graves y las lesiones pueden curar con cicatrices atróficas y formación de milia. Las manifestaciones extracutáneas incluyen distrofia ungueal, hipoplasia del esmalte y caries dental, ampollas y erosiones orales, esofágicas y vaginales."},"it":{"name":"Epidermolisi bollosa giunzionale inversa","synonyms":["JEB inversa","JEB-I"],"definition":"Si tratta di una forma intermedia rara di epidermolisi bollosa giunzionale, caratterizzata da vesciche ed erosioni congenite che interessano solo le aree della cute intertriginosa, l'esofago, l'inguine e il perineo. Di solito le vesciche sono gravi e le lesioni guarendo possono esitare in cicatrici atrofiche e milia. I sintomi extracutanei comprendono la distrofia delle unghie, l'ipoplasia dello smalto e le carie, le vesciche e le erosioni del cavo orale, dell'esofago e della vagina."},"nl":{"name":"Junctionele epidermolysis bullosa inversa","synonyms":["JEB inversa","JEB-I"],"definition":"Een zeldzame intermediaire vorm van junctionele epidermolysis bullosa, gekenmerkt door congenitale blaarvorming en erosies die beperkt blijven tot plaatsen met intertrigineuze huid, slokdarm, liesstreek, en perineum. Blaarvorming is meestal ernstig en laesies kunnen helen met vorming van atrofische littekens en milia. Extracutane manifestaties zijn onder meer nageldystrofie, hypoplasie van tandglazuur en tandbederf, en orale, oesofageale en vaginale blaren en erosies."},"pt":{"name":"Epidermólise bolhosa juncional inversa","definition":"Forma intermediária rara de epidermólise bolhosa juncional caracterizada por bolhas e erosões congénitas confinadas a locais intertriginosos da pele, esófago, virilha e períneo. A formação de bolhas geralmente é grave e as lesões podem curar com cicatrizes atróficas e formação de mília. As manifestações extracutâneas incluem distrofia ungueal, hipoplasia do esmalte e cárie dentária, bolhas e erosões orais, esofágicas e vaginais."},"pl":{"name":"Pęcherzowe oddzielenie się naskórka graniczne odwrócone","synonyms":["JEB inversa","JEB-I"]},"cs":{"name":"Junkční epidermolysis bullosa inversa","synonyms":["EBJ-I","Inverzní JEB","JEB-I"]},"uk":{"name":"Межовий бульозний епідермоліз інверсний","synonyms":["БЕЗ inversa","БЕЗ-I"],"definition":"A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions."},"zh":{"name":"交界型大疱性表皮松解症，相反型","synonyms":["反向性JEB"]},"tr":{"name":"Junctional epidermolizis bülloza inversa","synonyms":["EBJ-I","JEB-I","Ters JEB"]}},"xrefs":[{"source":"OMIM","code":"226650","qualifier":"NTBT","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":"1191822552"},{"source":"MONDO","code":"0019308","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673609","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","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:0001798","label":"Anonychia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004386","label":"Gastrointestinal inflammation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020117","label":"Hypoplastic dermoepidermal hemidesmosomes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","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:0002671","label":"Basal cell carcinoma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","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: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}]}}