{"orpha":369992,"name":"Severe dermatitis-multiple allergies-metabolic wasting syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome","SAM syndrome"],"definition":"A rare genetic epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369992/","orphanet_url":"https://www.orpha.net/en/disease/detail/369992","names":{"fr":{"name":"Syndrome de dermatite sévère-allergies multiples-cachexie métabolique","synonyms":["Syndrome SAM","Syndrome d'érythrodermie congénitale-hypotrichose-infections récurrentes-allergies alimentaires multiples"],"definition":"Maladie rare de l'épiderme, d'origine génétique, caractérisée par une érythrodermie congénitale avec dermatite psoriasiforme sévère, ichtyose, kératodermie palmoplantaire sévère, kératose jaune sur les mains et les pieds, taux d'immunoglobuline E élevé, multiples allergies alimentaires et cachexie métabolique. Les autres manifestations, inconstantes, peuvent inclure hypotrichose, dystrophie unguéale, infections récurrentes, léger retard de développement global, éosinophilie, nystagmus, retard de croissance et anomalies cardiaques."},"de":{"name":"Schwere Dermatitis-multiple Allergien-metabolischer Verlust-Syndrom","synonyms":["SAM-Syndrom"]},"es":{"name":"Síndrome de dermatitis grave-alergias múltiples-desgaste metabólico","synonyms":["Síndrome SAM"],"definition":"El síndrome de dermatitis grave - alergias múltiples - desgaste metabólico es un trastorno epidérmico, genético y poco frecuente, caracterizado por una eritrodermia congénita con dermatitis psoriasiforme grave, ictiosis, queratodermia palmoplantar grave, queratosis amarilla en manos y pies, inmunoglobulina E elevada, múltiples alergias alimentarias y desgaste metabólico. Otras características variables pueden incluir hipotricosis, distrofia ungueal, infecciones recurrentes, leve retraso global del desarrollo, eosinofilia, nistagmo, trastorno del crecimiento y defectos cardíacos."},"it":{"name":"Sindrome dermatite grave-allergie multiple-cachessia","synonyms":["Sindrome SAM"],"definition":"La sindrome che associa la dermatite grave, le allergie multiple e il deterioramento metabolico è una malattia genetica rara dell'epidermide, caratterizzata da eritrodermia congenita associata a dermatite psoriasiforme grave, ittiosi, cheratoderma palmoplantare grave, cheratosi gialla sulle mani e sui piedi, livelli elevati di immunoglobulina E, allergie alimentari multiple e deterioramento metabolico. Altri segni clinici occasionali sono l'ipotricosi, la distrofia ungueale, le infezioni ricorrenti, il lieve ritardo dello sviluppo globale, l'eosinofilia, il nistagmo, il ritardo della crescita e le cardiopatie."},"nl":{"name":"Ernstige dermatitis - meervoudige allergieën - metabole aftakeling-syndroom","synonyms":["Congenitale erytrodermie - hypotrichose - recidiverende infecties - meerdere voedselallergieën-syndroom","SAM-syndroom"],"definition":"Ernstige dermatitis - meervoudige allergieën - metabole aftakeling-syndroom is een zeldzame, genetische, epidermale stoornis die gekarakteriseerd wordt door congenitale erytrodermie met ernstige psoriasiforme dermatitis, ichthyosis, ernstige palmoplantaire keratodermie, gele keratose op de handen en voeten, toename van immunoglobuline E, multipele voedselallergieën, en metabole degradatie. Andere variabele kenmerken zijn onder meer hypotrichose, nageldystrofie, recurrente infecties, milde algehele ontwikkelingsachterstand, eosinofilie, nystagmus, groeistoornis en hartdefecten."},"pt":{"name":"Síndrome de dermatite grave – alergias múltiplas – degradação metabólica"},"pl":{"name":"Zespół ciężkie zapalenie skóry-mnogie alergie-wyniszczenie metaboliczne","synonyms":["Zespół SAM"]},"cs":{"name":"Syndrom zahrnující těžkou dermatitidu, mnohočetné alergie a metabolickou kachexii","synonyms":["SAM syndrom","Syndrom zahrnující vrozenou erytrodermii, hypotrichózu, opakující se infekce a mnohočetné potravinové alergie"]},"uk":{"name":"Синдром тяжкого дерматиту-множинної алергії-метаболічного виснаження","synonyms":["Синдром вродженої еритродермії - гіпотрихозу - рецидивуючих інфекцій - множинної харчової алергії","SAM-синдром"],"definition":"A rare genetic epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophillia, nystagmus, growth impairment and cardiac defects."},"zh":{"name":"严重皮炎-多发性过敏-代谢衰竭综合征","synonyms":["SAM综合征"],"definition":"严重皮炎-多过敏-代谢耗竭综合征是一种罕见的遗传性表皮疾病，其特征是先天性红皮病伴严重牛皮癣样皮炎、鱼鳞病、严重掌跖角化病、手脚黄色角化病、免疫球蛋白E升高、多种食物过敏和代谢性消瘦。其他可变疾病特征可能包括毛发减少、指甲营养不良、反复感染、轻度全面发育迟缓、嗜酸性粒细胞增多、眼球震颤、生长障碍和心脏缺陷。"},"tr":{"name":"Ağır dermatit-çoklu alerji-metabolik kayıp sendromu","synonyms":["SAM sendromu","Doğumsal eritrodermi-hipotrikoz-tekrarlayan infeksiyonlar-çoklu gıda alerjileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"615508","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014218","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3809719","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]},{"orpha":98050,"name":"Rare allergic disease","classifications":[212]}],"children":[],"genes":[{"symbol":"DSG1","name":"desmoglein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23974871[PMID]","hgnc":"3048","ensembl":"ENSG00000134760","omim":"125670","loci":["18q12.1"]},{"symbol":"DSP","name":"desmoplakin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26073755[PMID]","hgnc":"3052","ensembl":"ENSG00000096696","omim":"125647","loci":["6p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23974871[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}