{"orpha":537,"name":"Toxic epidermal necrolysis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Lyell syndrome"],"definition":"An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving 30% or more 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-537/","orphanet_url":"https://www.orpha.net/en/disease/detail/537","names":{"fr":{"name":"Nécrolyse épidermique toxique","synonyms":["NET","Syndrome de Lyell"],"definition":"Forme étendue du spectre syndrome de Stevens-Johnson / nécrolyse épidermique toxique, caractérisée par une destruction et un décollement de l'épithélium cutané, touchant 30 % ou plus de la surface corporelle, ainsi que les muqueuses. La maladie se déclare généralement 4 à 28 jours après l'administration du médicament causal, le plus souvent des antiépileptiques, des sulfamides antibactériens, l'allopurinol, la névirapine et les oxicams (anti-inflammatoires non stéroïdiens), mais de nombreux autres médicaments ont été mis en cause. Dans 15 % des cas, la maladie n'est pas induite par les médicaments. Sur le plan histologique, la maladie est caractérisée par une nécrolyse épidermique. De multiples séquelles invalidantes sur le long terme (notamment cutanées, oculaires et psychologiques) sont fréquentes."},"de":{"name":"Toxische epidermale Nekrolyse","synonyms":["Lyell-Syndrom"],"definition":"Eine erweiterte Form des Stevens-Johnson-Syndroms/toxischen epidermalen Nekrolyse-Spektrums, gekennzeichnet durch Zerstörung und Ablösung des Hautepithels, wobei 30 % oder mehr der Körperoberfläche und der Schleimhäute betroffen sind. Der Ausbruch tritt in der Regel 4-28 Tage nach Verabreichung des ursächlichen Medikaments auf und wird am häufigsten mit Antikonvulsiva, antibakteriellen Sulfonamiden, Allopurinol, Nevirapin und Oxicams (nichtsteroidale Antirheumatika) in Verbindung gebracht, aber auch viele andere Medikamente wurden in Betracht gezogen. In 15 % der Fälle wird die Krankheit nicht durch Medikamente ausgelöst. Die Histologie ist durch eine epidermale Nekrolyse gekennzeichnet. Häufig kommt es zu multiplen, beeinträchtigenden Langzeitfolgen (insbesondere kutane, okuläre und psychologische)."},"es":{"name":"Necrólisis epidérmica tóxica","synonyms":["Síndrome de Lyell"],"definition":"Es una forma extendida del síndrome de Stevens-Johnson/ espectro de necrólisis epidérmica tóxica caracterizada por la destrucción y el desprendimiento del epitelio de la piel, que afecta al 30% o más de la superficie corporal, y de las membranas mucosas. El inicio suele producirse entre 4 y 28 días después de la administración del medicamento causante y se asocia con mayor frecuencia a los anticonvulsivantes, las sulfonamidas antibacterianas, el alopurinol, la nevirapina y los oxicamínicos (antiinflamatorios no esteroideos), pero también se han implicado muchos otros fármacos. En el 15% de los casos, la enfermedad no está inducida por fármacos. Histológicamente se caracteriza por necrólisis epidérmica. Son frecuentes las múltiples secuelas incapacitantes a largo plazo (especialmente cutáneas, oculares y psicológicas)."},"it":{"name":"Sindrome di Lyell"},"nl":{"name":"Toxische epidermale necrolyse","synonyms":["Syndroom van Lyell"],"definition":"Een uitgebreide vorm van syndroom van Stevens-Johnson/toxische epidermale necrolyse-spectrum, gekenmerkt door destructie en loslating van epitheel van huid, met betrokkenheid van 30% of meer van het lichaamsoppervlak, en van slijmvlies. Aanvang treedt meestal op vanaf 4-28 dagen na toediening van de causale medicatie, en is het vaakst geassocieerd met anticonvulsiva, antibacteriële sulfonamiden, allopurinol, nevirapine, en oxicamen (niet-steroïde anti-inflammatoire geneesmiddelen), maar vele andere geneesmiddelen werden ook reeds geïmpliceerd. In 15% van de gevallen wordt de ziekte niet geïnduceerd door medicatie. De histologie wordt gekenmerkt door een epidermale necrolyse. Meervoudige invaliderende langdurige restverschijnselen (vooral cutaan, oculair en psychologisch) komen vaak voor."},"pt":{"name":"Necrólise epidérmica tóxica","synonyms":["Síndrome Lyell"],"definition":"Forma majorada da síndrome Stevens-Johnson/espectro de necrólise epidérmica tóxica caracterizada pela destruição e descolamento do epitélio da pele, envolvendo 30% ou mais da área de superfície corporal, e membranas mucosas. O início geralmente ocorre 4-28 dias após a administração do medicamento causal e é mais frequentemente associado a anticonvulsivantes, sulfonamidas antibacterianas, alopurinol, nevirapina e oxicams (antiinflamatórios não esteróides), mas outros medicamentos também foram implicados. A doença não é induzida por medicamentos em 15% dos casos. A histologia é caracterizada por uma necrólise epidérmica. Múltiplas sequelas incapacitantes a longo prazo (especialmente cutâneas, oculares e psicológicas) são frequentes."},"pl":{"name":"Zespół Lyella","synonyms":["Toksyczna nekroliza naskórka"],"definition":"Rozszerzona postać zespołu Stevensa-Johnsona/toksycznej nekrolizy naskórka, charakteryzująca się zniszczeniem i odwarstwieniem warstwy nabłonkowej skóry, które obejmuje co najmniej 30% powierzchni ciała i błon śluzowych. Objawy pojawiają się zwykle 4–28 dni po podaniu leku sprawczego i są najczęściej związane z zastosowaniem leków przeciwdrgawkowych, przeciwbakteryjnych sulfonamidów, allopurynolu, newirapiny i oksykamów (niesteroidowych leków przeciwzapalnych), ale także wielu innych leków. W 15% przypadków choroba nie jest związana z podawaniem leków. W obrazie histologicznym widoczna jest martwica naskórka. Częste są liczne, długotrwałe powikłania (zwłaszcza skórne, oczne i psychologiczne)."},"cs":{"name":"Lyellův syndrom","synonyms":["Lyell syndrome"]},"uk":{"name":"Токсичний епідермальний некроліз","synonyms":["Синдром Лайєлла"],"definition":"An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving 30% or more 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":"中毒性表皮坏死松解症","synonyms":["Lyell综合征"]},"tr":{"name":"Toksik epidermal nekroliz","synonyms":["Lyell sendromu"]}},"xrefs":[{"source":"ICD-10","code":"L51.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"EB13.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1575072695"},{"source":"MONDO","code":"0018890","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014518","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10044223","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"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":"2018-01-29","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:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","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:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003781","label":"Excessive salivation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","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:0000142","label":"Abnormality of the vagina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006554","label":"Acute hepatic failure","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:0000621","label":"Entropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031368","label":"Intestinal perforation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","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:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}