{"orpha":508529,"name":"Intermediate epidermolysis bullosa simplex with cardiomyopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Intermediate EBS with cardiomyopathy"],"definition":"A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-508529/","orphanet_url":"https://www.orpha.net/en/disease/detail/508529","names":{"fr":{"name":"Epidermolyse bulleuse simple intermédiaire avec cardiomyopathie","synonyms":["EBS intermédiaire avec cardiomyopathie"],"definition":"Epidermolyse bulleuse héréditaire rare, caractérisée par une aplasie cutanée congénitale sur les membres, à l'origine d'une hypopigmentation et une atrophie réparties de manière diffuse. Les cloques généralisées persistent pendant l'enfance et guérissent en donnant lieu à une atrophie cutanée et folliculaire, des cicatrices linéaires et stellaires et une hypopigmentation. Une augmentation de la fragilité de la peau est observée à l'âge adulte. Les patients adultes présentent une dyspigmentation et une atrophie de la peau, des cicatrices, une atrophodermie folliculaire, une pilosité corporelle clairsemée, une alopécie diffuse progressive du cuir chevelu, une kératodermie palmoplantaire diffuse et des anomalies des ongles. La cardiomyopathie dilatée avec insuffisance cardiaque complique l'évolution de la maladie au début de l'âge adulte ou plus tard, et peut avoir une issue létale. Sur le plan ultra-structurel, la scission intra-épidermique apparaît au niveau des kératinocytes basaux, au-dessus des hémidesmosomes."},"de":{"name":"Intermediäre Epidermolysis bullosa simplex mit Kardiomyopathie","synonyms":["Intermediäre EBS mit Kardiomyopathie"],"definition":"Eine hereditäre Form der Epidermolysis bullosa simplex, die durch eine Aplasia cutis congenita an den Extremitäten gekennzeichnet ist und eine Hypopigmentierung und Atrophie in einem verwirbelten Muster hinterlässt. Die generalisierte Blasenbildung bleibt in der Kindheit bestehen und heilt mit kutaner und follikulärer Atrophie, linearen und sternförmigen Narben und Hypopigmentierung ab. Die Hautbrüchigkeit nimmt im Erwachsenenalter ab. Erwachsene Patienten weisen Dyspigmentierung und Atrophie der Haut, Narben, follikuläre Atrophie, spärliche Körperbehaarung, progressive diffuse Alopezie der Kopfhaut, diffuse Palmoplantarkeratosen und Nagelveränderungen auf. Dilative Kardiomyopathie mit Herzinsuffizienz verkompliziert den Krankheitsverlauf im jungen Erwachsenenalter oder später und kann tödlich enden. Ultrastrukturell zeigt sich die intraepidermale Spaltung auf der Ebene der basalen Keratinozyten, oberhalb der Hemidesmosomen."},"es":{"name":"Epidermólisis ampollosa simple intermedia con miocardiopatía","synonyms":["EBS intermedia con miocardiopatía","Epidermólisis bullosa simple intermedia con miocardiopatía"],"definition":"Es una epidermólisis ampollosa, poco frecuente y hereditaria, que se caracteriza por aplasia cutis congénita en las extremidades que se manifiesta como hipopigmentación y atrofia en remolino. Las ampollas generalizadas persisten durante la infancia y curan con atrofia cutánea y folicular, formación de cicatrices lineales y estrelladas e hipopigmentación. La fragilidad de la piel disminuye en la edad adulta. Los pacientes adultos presentan despigmentación y atrofia de la piel, cicatrices, atrofia folicular, escasez de vello corporal, alopecia difusa progresiva del cuero cabelludo, queratodermia palmoplantar difusa y alteraciones ungueales. La miocardiopatía dilatada con insuficiencia cardíaca complica el curso de la enfermedad en la edad adulta joven o posterior y puede tener un resultado letal. Desde el punto de vista ultraestructural, la fragilidad intraepidérmica se detecta a nivel de los queratinocitos basales, en la zona situada por encima de los hemidesmosomas."},"it":{"name":"Epidermolisi bollosa semplice intermedia con cardiomiopatia","synonyms":["EBS intermedia con cardiomiopatia"],"definition":"Si tratta di un'epidermolisi bollosa ereditaria rara, caratterizzata da aplasia congenita della cute degli arti, associata ad ipopigmentazione e atrofia con distribuzione a vortice. Le vesciche si manifestano in maniera generalizzata durante tutta l'infanzia e guariscono lasciando atrofia cutanea e follicolare, cicatrici lineari e stellate, e ipopigmentazione. La fragilità cutanea diminuisce con l'età adulta. Gli adulti presentano depigmentazione e atrofia cutanea, cicatrici, atrofodermia follicolare, peli radi, alopecia diffusa progressiva del cuoio capelluto, cheratoderma palmoplantare diffuso e alterazioni delle unghie. Il decorso della malattia si complica nella prima età adulta o successivamente a causa dell'insorgenza della cardiomiopatia dilatativa con insufficienza cardiaca, che può essere letale. Dal punto di vista ultrastrutturale, la separazione intraepidermica è apprezzabile a livello dei cheratinociti basali, al di sopra degli emidesmosomi."},"nl":{"name":"Intermediaire epidermolysis bullosa simplex met cardiomyopathie","synonyms":["Intermediaire EBS met cardiomyopathie"],"definition":"Een zeldzame, erfelijke epidermolysis bullosa, gekarakteriseerd door aplasia cutis congenita van ledematen, wat leidt tot hypopigmentatie en atrofie in een wervelpatroon. Gegeneraliseerde blaarvorming houdt aan tijdens de kindertijd en geneest met cutane en folliculaire atrofie, lineaire en stervormige littekens, en hypopigmentatie. Fragiliteit van huid neemt af in de volwassenheid. Volwassen patiënten vertonen dispigmentatie en atrofie van huid, littekens, folliculaire atrofodermie, schaarse lichaamsbeharing, progressieve diffuse alopecie van scalp, diffuse palmoplantaire keratodermie, en veranderingen van nagels. Gedilateerde cardiomyopathie met hartfalen compliceert het verloop van de ziekte in de jonge volwassenheid of later, en kent mogelijk een letale uitkomst. Ultrastructureel verschijnt intra-epidermale splijting ter hoogte van basale keratinocyten, boven de hemidesmosomen."},"pt":{"name":"Epidermólise bolhosa simples intermédia com cardiomiopatia"},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka z kardiomiopatią","synonyms":["Intermediate EBS with cardiomyopathy"]},"cs":{"name":"Generalizovaná bazální epidermolysis bullosa simplex s kožní atrofií, jizvením a ztrátou vlasů","synonyms":["Intermediate EBS with cardiomyopathy"]},"uk":{"name":"Помірно виражений простий бульозний епідермоліз з кардіоміопатією","synonyms":["Проміжна EBS з кардіоміопатією"],"definition":"A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes."},"zh":{"name":"单纯大疱性表皮松解，广泛性，伴瘢痕和脱发","synonyms":["Intermediate EBS with cardiomyopathy"]},"tr":{"name":"Deri atrofisi, yara izi ve saç dökülmesi ile seyreden jeneralize bazal epidermolizis bülloza simpleks","synonyms":["Intermediate EBS with cardiomyopathy"]}},"xrefs":[{"source":"OMIM","code":"617294","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC30","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5555869","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595351,"name":"Epidermolysis bullosa simplex with extracutaneous involvement","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KLHL24","name":"kelch like family member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27889062[PMID]_27798626[PMID]_28532758[PMID]_29574966[PMID]","hgnc":"25947","ensembl":"ENSG00000114796","omim":"611295","loci":["3q27.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"27889062[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27889062[PMID]"}],"phenotypes":null}