{"orpha":95455,"name":"Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epidermal necrolysis","SJS-TEN"],"definition":"A rare toxic dermatosis with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95455/","orphanet_url":"https://www.orpha.net/en/disease/detail/95455","names":{"fr":{"name":"Spectre syndrome de Stevens-Johnson/nécrolyse épidermique toxique","synonyms":["Nécrolyse épidermique","SJS-TEN"],"definition":"Dermatose toxique rare avec manifestations cliniques et histologiques, caractérisée par la destruction et le décollement de l'épithélium de la peau et des muqueuses."},"de":{"name":"Stevens-Johnson-Syndrom/toxische epidermale Nekrolyse-Spektrum","synonyms":["Epidermolyse, toxische","SJS-TEN"],"definition":"Eine seltene toxische Dermatose mit klinischen und histologischen Merkmalen, die durch die Zerstörung und Ablösung des Hautepithels und der Schleimhäute gekennzeichnet ist."},"es":{"name":"Espectro del síndrome Stevens-Johnson/necrólisis epidérmica tóxica","synonyms":["Necrolisis epidérmica","SJS-NET"],"definition":"Es una dermatosis tóxica poco frecuente con características clínicas e histológicas caracterizada por la destrucción y desprendimiento del epitelio de la piel y de las membranas mucosas."},"it":{"name":"Sindrome di Stevens-Johnson/spettro della necrolisi epidermica tossica","synonyms":["Epidermolisi tossica","SJS-TEN"]},"nl":{"name":"Syndroom van Stevens-Johnson/toxische epidermale necrolyse-spectrum","synonyms":["Epidermale necrolyse","SJS-TEN"],"definition":"Een zeldzame toxische dermatose met klinische en histologische kenmerken, gekenmerkt door destructie en loslating van huidepitheel en slijmvlies."},"pt":{"name":"Espectro clínico de síndrome de Stevens-Johnson/necrólise epidérmica tóxica","synonyms":["Necrólise epidérmica","SJS-TEN"],"definition":"Dermatose tóxica rara com características clínicas e histológicas caracterizada pela destruição e descolamento do epitélio da pele e das mucosas."},"pl":{"name":"Toksyczna martwica naskórka","synonyms":["SJS-TEN","Toksyczna martwica naskórka","Spektrum zespół Stevensa-Johnsona/toksyczna martwica rozpływna naskórka"],"definition":"Rzadka toksyczna dermatoza o cechach klinicznych i histologicznych charakteryzujących się zniszczeniem i odklejeniem nabłonka skóry i błon śluzowych."},"cs":{"name":"Toxická epidermální nekrolýza","synonyms":["SJS-TEN","Toxická epidermolýza","Syndrom opařené kůže"]},"uk":{"name":"Синдром Стівенса-Джонсона / токсичний епідермальний некроліз","synonyms":["Епідермальний некроліз","SJS-TEN"],"definition":"A rare toxic dermatosis with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes."},"zh":{"name":"Stevens-Johnson综合征/中毒性表皮坏死松解症","synonyms":["中毒性表皮松解症"],"definition":"中毒性表皮坏死松解症（TEN）是一种急性和严重的皮肤病，其临床和组织学特征是皮肤上皮和粘膜的破坏和脱落。"},"tr":{"name":"Stevens-Johnson sendromu / toksik epidermal nekroliz spektrumu","synonyms":["SJS-TEN","Toksik epidermoliz"]}},"xrefs":[{"source":"OMIM","code":"608579","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L51.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"EB13","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"195467267"},{"source":"UMLS","code":"C3658302","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":519288,"name":"Rare disorder with corneal involvement as a major feature","classifications":[189]},{"orpha":293815,"name":"Toxic dermatosis","classifications":[187]}],"children":[{"orpha":36426,"name":"Stevens-Johnson syndrome","type":"Clinical subtype"},{"orpha":506784,"name":"Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome","type":"Clinical subtype"},{"orpha":537,"name":"Toxic epidermal necrolysis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":36426,"name":"Stevens-Johnson syndrome"}},{"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"],"via":{"orpha":36426,"name":"Stevens-Johnson syndrome"}}],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"Worldwide","status":"Not yet validated","source":"21162721[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Taiwan, Province of China","status":"Validated","source":"15057820[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.189,"area":"Germany","status":"Validated","source":"15057820[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"United States","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-15","source":"8420497[PMID]_27716721[PMID]_26481651[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","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:0011123","label":"Inflammatory abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025426","label":"Abnormal bronchus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100792","label":"Acantholysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031464","label":"Genital blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012384","label":"Rhinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004378","label":"Abnormality of the anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001600","label":"Abnormality of the larynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012122","label":"Anterior uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012375","label":"Chemosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004386","label":"Gastrointestinal inflammation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031731","label":"Increased tear production","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012594","label":"Microalbuminuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010285","label":"Oral synechia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008682","label":"Renal tubular epithelial necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430007","label":"Symblepharon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001128","label":"Trichiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031088","label":"Vaginal dryness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025416","label":"Vaginal stricture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030943","label":"Vulvodynia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031368","label":"Intestinal perforation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null}]}}