{"orpha":314,"name":"Erythroderma desquamativum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Leiner disease"],"definition":"A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly <i>Staphylococcus aureus</i>, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314/","orphanet_url":"https://www.orpha.net/en/disease/detail/314","names":{"fr":{"name":"Erythrodermie desquamative","synonyms":["Maladie de Leiner-Moussous"],"definition":"Déficit immunitaire rare avec atteinte cutanée, caractérisé par l'apparition précoce chez le nourrisson d'une tétrade clinique comprenant une érythrodermie sévère généralisée de type séborrhéique, des infections bactériennes ou fongiques secondaires récurrentes (le plus souvent à staphylocoque doré, <i>Candida</i> et bactéries à Gram négatif), une diarrhée persistante et abondante due à la malabsorption et un retard de croissance ou une émaciation marquée. Fièvre, anémie et perte de poids font partie des symptômes systémiques associés. Parmi les complications critiques figurent une altération de la thermorégulation et une perte sévère de liquide due à une exfoliation importante."},"de":{"name":"Erythroderma desquamativa","synonyms":["Erythrodermia exfoliativa Leiner","Leiner-Krankheit"],"definition":"Ein seltener Immundefekt mit Hautbeteiligung, gekennzeichnet durch einen frühen Beginn einer klinischen Tetrade mit generalisiertem schweren seborrhoischen Erythrodermie, rezidivierenden sekundären bakteriellen oder Pilzinfektionen (am häufigsten <i>Staphylococcus aureus</i>, Candida und gramnegative Bakterien), persistierenden profusen malabsorptiven Diarrhoen und Gedeihstörungen oder ausgeprägter Abmagerung. Systemische Begleitsymptome sind Fieber, Anämie und Gewichtsverlust. Weitere kritische Komplikationen sind eine gestörte Thermoregulation und ein hoher Flüssigkeitsverlust aufgrund der starken Exfoliation."},"es":{"name":"Eritrodermia descamativa de Leiner-Moussous","definition":"Es una inmunodeficiencia poco frecuente con afectación cutánea caracterizada por el inicio en la lactancia temprana de una tétrada clínica que comprende eritrodermia seborreica grave generalizada, infecciones bacterianas o micóticas secundarias recurrentes (con mayor frecuencia <i>Staphylococcus aureus</i>, Candida y bacterias Gram-negativas), diarrea malabsortiva profusa y persistente y fallo de medro o emaciación grave. Los síntomas sistémicos asociados incluyen fiebre, anemia y pérdida de peso. Otras complicaciones críticas son la alteración de la termorregulación y una grave pérdida de líquidos debido a una exfoliación extensa."},"it":{"name":"Eritrodermia desquamativa","synonyms":["Malattia di Leiner"],"definition":"Si tratta di un'immunodeficienza rara con interessamento della cute, caratterizzata dall'esordio precoce di una tetrade clinica che comprende l'eritroderma simil-seborroico grave generalizzato, le infezioni batteriche o fungine secondarie ricorrenti (soprattutto da <i>Staphylococcus aureus</i>, Candida e batteri gram-negativi), la diarrea persistente e abbondante con malassorbimento e il ritardo della crescita o marcata distruzione tissutale. I sintomi sistemici comprendo la febbre, l'anemia e la perdita di peso. Ulteriori complicanze critiche sono l'alterazione della termoregolazione e la grave perdita di liquidi secondaria ad un'estesa esfoliazione."},"nl":{"name":"Erytroderma desquamativa","synonyms":["Ziekte van Leiner"],"definition":"Een zeldzame immuundeficiëntie met betrokkenheid van huid, gekenmerkt door vroeg infantiel optreden van een klinische tetrade bestaande uit gegeneraliseerde ernstige seborroïsch-achtige erytrodermie, recidiverende secundaire bacteriële of fungale infecties (doorgaans <i>Staphylococcus aureus</i>, Candida, en gram-negatieve bacteriën), persisterende en overmatige malabsorptieve diarree, en niet-gedijen of sterke vermagering. Geassocieerde systemische symptomen zijn onder meer koorts, anemie, en gewichtsverlies. Overige kritieke complicaties zijn verstoorde thermoregulatie en ernstig vochtverlies als gevolg van extensieve exfoliatie."},"pt":{"name":"Eritrodermia descamativa","synonyms":["Doença de Leiner"]},"pl":{"name":"Erytrodermia złuszczająca","synonyms":["Choroba Leinera"]},"cs":{"name":"Deskvamativní erytrodermie","synonyms":["Leinerova choroba"]},"uk":{"name":"Еритродермія десквамативна (Erythroderma desquamativum)","synonyms":["Хвороба Лейнера"],"definition":"A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly <i>Staphylococcus aureus</i>, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation."},"zh":{"name":"脱屑性红皮病","synonyms":["脱屑性红皮病"]},"tr":{"name":"Eritroderma desquamativum","synonyms":["Leiner hastalığı"]}},"xrefs":[{"source":"OMIM","code":"609536","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L21.1","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EH40.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"606409876"},{"source":"MONDO","code":"0017787","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5551904","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6878","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":6.0,"area":"United States","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001051","label":"Seborrheic dermatitis","frequency":"Very frequent (99-80%)","criteria":null}]}}