{"orpha":79397,"name":"Epidermolysis bullosa simplex with mottled pigmentation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EBS with mottled pigmentation","EBS-MP"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79397/","orphanet_url":"https://www.orpha.net/en/disease/detail/79397","names":{"fr":{"name":"Epidermolyse bulleuse simple avec pigmentation mouchetée","synonyms":["EBS avec pigmentation mouchetée","EBS-MP"],"definition":"Epidermolyse bulleuse simple héréditaire rare, caractérisée par l'apparition, en période néonatale ou infantile, de bulles généralisées sur la peau avec pigmentation marron mouchetée ou réticulée de développement plus tardif. Les bulles s'accompagnent souvent d'une légère dystrophie unguéale, d'une kératodermie palmoplantaire focale et, plus rarement, de grains de milium et elles sont principalement localisées sur les membres et le tronc."},"de":{"name":"Epidermolysis bullosa simplex mit gesprenkelter Pigmentierung","synonyms":["EBS-MP","EDS mit gefleckter Pigmentierung"],"definition":"Eine seltene hereditäre Form der Epidermolysis bullosa simplex, die sich durch eine im Neugeborenen- oder Säuglingsalter beginnende generalisierte Blasenbildung mit einer sich später entwickelnden gesprenkelten oder netzartigen braunen Pigmentierung auszeichnet. Die Blasenbildung geht häufig mit einer leichten Nageldystrophie und fokalen Palmoplantarkeratosen einher, seltener mit Milien, und betrifft meist die Gliedmaßen und den Rumpf."},"es":{"name":"Epidermólisis ampollosa simple con pigmentación moteada","synonyms":["EBS con pigmentación moteada","Epidermólisis bullosa simple con pigmentación moteada"],"definition":"Es una forma hereditaria y poco frecuente de epidermólisis ampollosa simple caracterizada por la formación al nacimiento o durante la infancia de ampollas generalizadas con pigmentación marrón moteada o reticular que se desarrolla más tarde. La formación de ampollas suele ir acompañada de distrofia ungueal leve y queratodermia palmoplantar focal, y rara vez de milia, afectando principalmente a las extremidades y el tronco."},"it":{"name":"Epidermolisi bollosa semplice con pigmentazione a chiazze","synonyms":["EBS con pigmentazione a chiazze","EBS-MP"],"definition":"Si tratta di un'epidermolisi bollosa semplice, rara ed ereditaria, che esordisce nel periodo neonatale o nella prima infanzia con vesciche generalizzate, che successivamente assumono una pigmentazione marrone a chiazze o reticolata. Spesso le vesciche si associano ad una lieve distrofia ungueale, a cheratoderma palmoplantare focale e, di rado, a milia; le vesciche interessano prevalentemente gli arti e il tronco."},"nl":{"name":"Epidermolysis bullosa simplex met gevlekte pigmentatie","synonyms":["EBS met gevlekte pigmentatie","EBS-MP"],"definition":"Een zeldzame, erfelijke epidermolysis bullosa simplex, gekenmerkt door neonatale of infantiele aanvang van gegeneraliseerde blaarvorming, met in een latere fase ontwikkeling van gevlekte of reticulaire bruine pigmentatie. Blaarvorming wordt vaak vergezeld van milde nageldystrofie en focale palmoplantaire keratodermie, en in zeldzame gevallen door milia, en tast doorgaans ledematen en romp aan."},"pt":{"name":"Epidermólise bolhosa simples com pigmentação mosqueada","synonyms":["EBS-MP"],"definition":"Epidermólise bolhosa simplex rara, hereditária, caracterizada pelo início no período neonatal ou infantil de bolhas generalizadas com pigmentação acastanhada mosqueada ou reticulada que se desenvolvem posteriormente. A formação de bolhas costuma ser acompanhada de distrofia ungueal leve e queratodermia palmoplantar focal e, raramente, por mília e afeta principalmente os membros e o tronco."},"pl":{"name":"Postać prosta pęcherzowego oddzielania się naskórka z plamistą pigmentacją","synonyms":["EBS with mottled pigmentation","EBS-MP"]},"cs":{"name":"Epidermolysis bullosa simplex se skvrnitými pigmentacemi","synonyms":["EBS-MP"]},"uk":{"name":"Простий бульозний епідермоліз з плямистою пігментацією","synonyms":["БЕС зі строкатою пігментацією","БЕС-MP"],"definition":"A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk."},"zh":{"name":"单纯性大疱性表皮松解症伴斑驳色素沉着","synonyms":["EBS with mottled pigmentation","EBS-MP"]},"tr":{"name":"Benekli pigmentasyon ile seyreden epidermolizis bülloza simpleks","synonyms":["EBS-MP"]}},"xrefs":[{"source":"OMIM","code":"131960","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":"index","validated":true,"icd11_uri":"1688797966"},{"source":"MONDO","code":"0007556","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535959","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432316","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9737","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595346,"name":"Epidermolysis bullosa simplex without extracutaneous involvement","classifications":[156,187]}],"children":[],"genes":[{"symbol":"KRT14","name":"keratin 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16601668[PMID]_20301543[PMID]","hgnc":"6416","ensembl":"ENSG00000186847","omim":"148066","loci":["17q21.2"]},{"symbol":"KRT5","name":"keratin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301543[PMID]","hgnc":"6442","ensembl":"ENSG00000186081","omim":"148040","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-15","source":"22640275[PMID]_30690752[PMID]_32884918[PMID]_20301543[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003341","label":"Junctional split","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009123","label":"Mixed hypo- and hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001070","label":"Mottled pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007427","label":"Reticulated skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007585","label":"Skin fragility with non-scarring blistering","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009719","label":"Hypomelanotic macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010765","label":"Palmar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007556","label":"Plantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005590","label":"Spotty hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","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}]}}