{"orpha":36426,"name":"Stevens-Johnson syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Dermatostomatitis, Stevens Johnson type"],"definition":"A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving less than 10% of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36426/","orphanet_url":"https://www.orpha.net/en/disease/detail/36426","names":{"fr":{"name":"Syndrome de Stevens-Johnson","synonyms":["Dermatostomatite type Stevens-Johnson"],"definition":"Le syndrome de Stevens-Johnson est une forme limitée de nécrolyse épidermique toxique caractérisée par la destruction et le détachement de l'épithélium de la peau et des muqueuses sur moins de 10 % de la surface totale corporelle."},"de":{"name":"Stevens-Johnson-Syndrom","synonyms":["Dermatostomatitis Typ Stevens-Johnson"],"definition":"Eine limitierte Form des Stevens-Johnson-Syndrom/toxische epidermale Nekrolyse-Spektrums, die durch Destruktion und Ablösung des Hautepithels und der Schleimhäute gekennzeichnet ist und weniger als 10 % der Körperoberfläche betrifft."},"es":{"name":"Síndrome de Stevens-Johnson","definition":"Es una forma limitada del espectro del síndrome de Stevens-Johnson/necrólisis epidérmica tóxica caracterizada por la destrucción y el desprendimiento del epitelio cutáneo y de las membranas mucosas que afecta a menos del 10% de la superficie corporal."},"it":{"name":"Sindrome di Stevens-Johnson","synonyms":["Dermatostomatite, tipo Stevens-Johnson"]},"nl":{"name":"Syndroom van Stevens-Johnson","synonyms":["Dermatostomatitis, Stevens-Johnson-type"],"definition":"Een beperkte vorm van syndroom van Stevens-Johnson/toxische epidermale necrolyse-spectrum, gekarakteriseerd door destructie en loslating van epitheel van huid en slijmvlies met betrokkenheid van minder dan 10% van het lichaamsoppervlak."},"pt":{"name":"Síndrome Stevens-Johnson","synonyms":["Dermatostomatite tipo Stevens-Johnson"],"definition":"O síndrome de Stevens-Johnson é uma forma limitada de necrólise epidérmica tóxica (ver este termo) caracterizada pela destruição e descolamento do epitélio da pele e membranas mucosas envolvendo menos de 10% da superfície corporal."},"pl":{"name":"Zespół Stevensa i Johnsona","synonyms":["Dermatostomatitis, Stevens Johnson type"]},"cs":{"name":"Stevensův-Johnsonův syndrom","synonyms":["Dermatostomatitida, Stevensův Johnsonův typ","Stevens-Johnsonův syndrom","Dermatostomatitida, Stevens Johnsonův typ"]},"uk":{"name":"Синдром Стівенса-Джонсона","synonyms":["Дерматостоматит типу Стівенса-Джонсона"],"definition":"A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving less than 10% of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent."},"zh":{"name":"Stevens-Johnson综合征","synonyms":["多形性红斑Stevens Johnson型"]},"tr":{"name":"Stevens-Johnson sendromu","synonyms":["Dermatostomatit, Stevens Johnson tipi"]}},"xrefs":[{"source":"OMIM","code":"608579","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L51.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"EB13.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"450167795"},{"source":"MONDO","code":"0018229","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013262","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0038325","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7700","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10042033","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":95455,"name":"Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum","classifications":[187,189]}],"children":[],"genes":[{"symbol":"HLA-B","name":"major histocompatibility complex, class I, B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"4932","ensembl":"ENSG00000234745","omim":"142830","loci":["6p21.33"]},{"symbol":"IKZF1","name":"IKAROS family zinc finger 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25672763[PMID]","hgnc":"13176","ensembl":"ENSG00000185811","omim":"603023","loci":["7p12.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.36,"area":"Europe","status":"Not yet validated","source":"23866878[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100792","label":"Acantholysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001874","label":"Abnormality of neutrophils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003781","label":"Excessive salivation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000795","label":"Abnormality of the urethra","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030016","label":"Dyspareunia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000621","label":"Entropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002043","label":"Esophageal stricture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001960","label":"Hypokalemic metabolic alkalosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}