Stevens-Johnson syndrome
Synonyms: Dermatostomatitis, Stevens Johnson type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stevens-Johnson syndrome | Dermatostomatitis, Stevens Johnson type |
| fr | Syndrome de Stevens-Johnson | Dermatostomatite type Stevens-Johnson |
| de | Stevens-Johnson-Syndrom | Dermatostomatitis Typ Stevens-Johnson |
| es | Síndrome de Stevens-Johnson | |
| it | Sindrome di Stevens-Johnson | Dermatostomatite, tipo Stevens-Johnson |
| nl | Syndroom van Stevens-Johnson | Dermatostomatitis, Stevens-Johnson-type |
| pt | Síndrome Stevens-Johnson | Dermatostomatite tipo Stevens-Johnson |
| pl | Zespół Stevensa i Johnsona | = en |
| cs | Stevensův-Johnsonův syndrom | Dermatostomatitida, Stevensův Johnsonův typ · Stevens-Johnsonův syndrom · Dermatostomatitida, Stevens Johnsonův typ |
| uk | Синдром Стівенса-Джонсона | Дерматостоматит типу Стівенса-Джонсона |
| zh | Stevens-Johnson综合征 | 多形性红斑Stevens Johnson型 |
| tr | Stevens-Johnson sendromu | Dermatostomatit, Stevens Johnson tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608579 | NTBT | validated | |
| ICD-10 | L51.1 | NTBT | inclusion | validated |
| ICD-11 | EB13.0 | E | specific | validated |
| MONDO | 0018229 | E | validated | |
| MeSH | D013262 | E | validated | |
| UMLS | C0038325 | E | validated | |
| GARD | 7700 | E | validated | |
| MedDRA | 10042033 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:95455Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
rare skin diseases; rare ophthalmic disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HLA-B | Major susceptibility factor in | Not yet assessed | HGNC:4932 | ENSG00000234745 | 142830 | 6p21.33 | major histocompatibility complex, class I, B | |
| IKZF1 | Major susceptibility factor in | Assessed | HGNC:13176 | ENSG00000185811 | 603023 | 7p12.2 | IKAROS family zinc finger 1 | 25672763[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.36 / 100 000 | Europe | Value and class | Not yet validated | 23866878[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0100792 | Acantholysis | |
| HP:0002014 | Diarrhea | |
| HP:0010783 | Erythema | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0012733 | Macule | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0001874 | Abnormality of neutrophils | |
| HP:0002015 | Dysphagia | |
| HP:0003781 | Excessive salivation | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001637 | Abnormal myocardium morphology | |
| HP:0002103 | Abnormality of the pleura | |
| HP:0000795 | Abnormality of the urethra | |
| HP:0006554 | Acute hepatic failure | |
| HP:0001903 | Anemia | |
| HP:0000509 | Conjunctivitis | |
| HP:0200020 | Corneal erosion | |
| HP:0012735 | Cough | |
| HP:0030016 | Dyspareunia | |
| HP:0002094 | Dyspnea | |
| HP:0100518 | Dysuria | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000621 | Entropion | |
| HP:0002043 | Esophageal stricture | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0001960 | Hypokalemic metabolic alkalosis | |
| HP:0001658 | Myocardial infarction | |
| HP:0001733 | Pancreatitis | |
| HP:0000613 | Photophobia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000083 | Renal insufficiency | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0100806 | Sepsis | |
| HP:0001645 | Sudden cardiac death | |
| HP:0001873 | Thrombocytopenia | |
| HP:0000505 | Visual impairment | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/36426
- This record as JSON: /data/d/36426.json