{"orpha":1839,"name":"Hereditary mucoepithelial dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Urban-Schosser-Spohn syndrome"],"definition":"A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1839/","orphanet_url":"https://www.orpha.net/en/disease/detail/1839","names":{"fr":{"name":"Dysplasie mucoépithéliale héréditaire","synonyms":["Syndrome d'Urban-Schosser-Spohn"],"definition":"Déficit immunitaire génétique avec atteinte cutanée, caractérisé par la triade clinique suivante : alopécie non cicatricielle touchant principalement le cuir chevelu, érythème bien délimité des muqueuses et plaques érythémateuses psoriasiformes au niveau des zones intertrigineuses. Parmi les autres signes cliniques figurent : kératose pilaire, kératoconjonctivite, cataractes, chéilite angulaire, langue fissurée et infections récurrentes. L'examen histopathologique des lésions des muqueuses met en évidence les signes caractéristiques suivants : kératinocytes dyskératosiques, cellules basales vacuolisées, absence de maturation épithéliale et nombre réduit de desmosomes."},"de":{"name":"Dysplasie, mukoepitheliale hereditäre","synonyms":["Urban-Schosser-Spohn-Syndrom"],"definition":"Eine seltene, genetisch bedingte Immunschwäche mit Hautbeteiligung, die durch eine klinische Trias aus nicht vernarbender Alopezie (die hauptsächlich die Kopfhaut betrifft), gut abgegrenztem Schleimhauterythem und psoriasiformen erythematösen intertriginösen Plaques gekennzeichnet ist. Follikuläre Keratose, Keratokonjunktivitis, Katarakte, anguläre Cheilitis, fissurierte Zunge und rezidivierende Infektionen sind weitere klinische Merkmale. Die Histopathologie der Schleimhautläsionen zeigt charakteristische Befunde von dyskeratotischen Keratinozyten, vakuolisierten Basalzellen, fehlender epithelialer Reifung und verminderter Anzahl von Desmosomen."},"es":{"name":"Displasia mucoepitelial hereditaria","synonyms":["Síndrome de Urban-Schosser-Spohn"],"definition":"Es una inmunodeficiencia de origen genético y poco frecuente, con afectación cutánea caracterizada por la tríada de alopecia no cicatricial (que afecta, principalmente, al cuero cabelludo), eritema mucoso bien delimitado y placas intertriginosas eritematosas psoriasiformes. Otros hallazgos clínicos adicionales son queratosis folicular, queratoconjuntivitis, cataratas, queilitis angular, lengua fisurada e infecciones recurrentes. La histopatología de las lesiones de la mucosa muestra hallazgos característicos de queratinocitos disqueratósicos, células basales vacuoladas, falta de maduración epitelial y disminución del número de desmosomas."},"it":{"name":"Displasia mucoepiteliale ereditaria","synonyms":["Sindrome di Urban-Schosser-Spohn"],"definition":"Si tratta di un'immunodeficienza genetica rara con interessamento della cute, caratterizzata dalla triade clinica alopecia non cicatriziale localizzata per lo più sul cuoio capelluto, eritema delle mucose ben delimitato e placche intertriginose eritematose psoriasiformi. La malattia si associa anche a cheratosi follicolare, cheratocongiuntivite, cataratta, cheilite angolare, fissurazioni della lingua e infezioni ricorrenti. L'esame istopatologico delle lesioni della mucosa evidenzia la presenza caratteristica di cheratinociti discheratosici, cellule basali vacuolate, l'assenza della maturazione epiteliale e la diminuzione del numero di desmosomi."},"nl":{"name":"Erfelijke muco-epitheliale dysplasie","synonyms":["Syndroom van Urban-Schosser-Spohn"],"definition":"Een zeldzame, genetische immuundeficiëntie met betrokkenheid van de huid, gekarakteriseerd door de klinische triade van niet-littekenvormende alopecie die voornamelijk de hoofdhuid aantast, goed begrensd mucosaal erytheem, en psoriasiforme erythemateuze intertrigineuze plaques. Folliculaire keratose, keratoconjunctivitis, cataracten, angulaire cheilitis, gekloofde tong, en recurrente infecties zijn bijkomende klinische kenmerken. Histopathologie van mucosale letsels toont karakteristieke bevindingen van dyskeratotische keratinocyten, gevacuoliseerde basale cellen, gebrek aan epitheliale rijping en verminderd aantal desmosomen."},"pt":{"name":"Displasia muco-epitelial hereditária","synonyms":["Síndrome Urban-Schosser-Spohn"]},"pl":{"name":"Dziedziczna dysplazja śluzowo-nabłonkowa","synonyms":["Zespół Urbana, Schossera i Spohna"]},"cs":{"name":"Hereditární mukoepiteliální dysplázie","synonyms":["Urbanův-Schosserův-Spohnův syndrom","Urban-Schosser-Spohnův syndrom"]},"uk":{"name":"Спадкова дисплазія слизового епітелію","synonyms":["Синдром Урбана-Шоссера-Спона"],"definition":"A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes."},"zh":{"name":"遗传性粘膜上皮发育异常","synonyms":["Urban-Schosser-Spohn综合征"]},"tr":{"name":"Kalıtsal mukoepitelyal displazi","synonyms":["Urban-Schosser-Spohn sendromu"]}},"xrefs":[{"source":"OMIM","code":"158310","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K13.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA02.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1167609602"},{"source":"MONDO","code":"0008017","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1274795","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5427","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000014","label":"Abnormality of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null}]}}