ORPHA:95455

Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum

Synonyms: Epidermal necrolysis · SJS-TEN

Type: Disease
Group: Disorder
Inheritance: Not applicable
Age of onset: All ages
Status: active

A rare toxic dermatosis with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum	Epidermal necrolysis · SJS-TEN
fr	Spectre syndrome de Stevens-Johnson/nécrolyse épidermique toxique	Nécrolyse épidermique · SJS-TEN
de	Stevens-Johnson-Syndrom/toxische epidermale Nekrolyse-Spektrum	Epidermolyse, toxische · SJS-TEN
es	Espectro del síndrome Stevens-Johnson/necrólisis epidérmica tóxica	Necrolisis epidérmica · SJS-NET
it	Sindrome di Stevens-Johnson/spettro della necrolisi epidermica tossica	Epidermolisi tossica · SJS-TEN
nl	Syndroom van Stevens-Johnson/toxische epidermale necrolyse-spectrum	Epidermale necrolyse · SJS-TEN
pt	Espectro clínico de síndrome de Stevens-Johnson/necrólise epidérmica tóxica	Necrólise epidérmica · SJS-TEN
pl	Toksyczna martwica naskórka	SJS-TEN · Toksyczna martwica naskórka · Spektrum zespół Stevensa-Johnsona/toksyczna martwica rozpływna naskórka
cs	Toxická epidermální nekrolýza	SJS-TEN · Toxická epidermolýza · Syndrom opařené kůže
uk	Синдром Стівенса-Джонсона / токсичний епідермальний некроліз	Епідермальний некроліз · SJS-TEN
zh	Stevens-Johnson综合征/中毒性表皮坏死松解症	中毒性表皮松解症
tr	Stevens-Johnson sendromu / toksik epidermal nekroliz spektrumu	SJS-TEN · Toksik epidermoliz

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	608579	NTBT		validated
ICD-10	L51.2	E	specific	validated
ICD-11	EB13	E	specific	validated
UMLS	C3658302	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):

ORPHA:89826Rare skin disease

Parents in the classifications (2):

ORPHA:519288Rare disorder with corneal involvement as a major feature
rare ophthalmic disorders
ORPHA:293815Toxic dermatosis
rare skin diseases

Children (3):

Genes

0 direct · 2 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
HLA-B	ORPHA:36426Stevens-Johnson syndrome	Major susceptibility factor in	Not yet assessed	HGNC:4932	ENSG00000234745	142830	6p21.33	major histocompatibility complex, class I, B
IKZF1	ORPHA:36426Stevens-Johnson syndrome	Major susceptibility factor in	Assessed	HGNC:13176	ENSG00000185811	603023	7p12.2	IKAROS family zinc finger 1	25672763[PMID]

Prevalence and incidence

5 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 1 000 000	0.19 / 100 000	Worldwide	Value and class	Not yet validated	21162721[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET
Annual incidence	1-9 / 1 000 000	0.8 / 100 000	Taiwan, Province of China	Value and class	Validated	15057820[PMID]
Annual incidence	1-9 / 1 000 000	0.189 / 100 000	Germany	Value and class	Validated	15057820[PMID]
Annual incidence	1-9 / 1 000 000	0.19 / 100 000	United States	Value and class	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

64 annotations · validated 2019-10-15

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0008066	Abnormal blistering of the skin
HP:0030953	Conjunctival hyperemia
HP:0012378	Fatigue
HP:0001945	Fever
HP:0011123	Inflammatory abnormality of the skin
Frequent (79-30%)
HP:0025426	Abnormal bronchus morphology
HP:0000600	Abnormality of the pharynx
HP:0100792	Acantholysis
HP:0001903	Anemia
HP:0002039	Anorexia
HP:0000739	Anxiety
HP:0000987	Atypical scarring of skin
HP:0000509	Conjunctivitis
HP:0012735	Cough
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0031464	Genital blistering
HP:0002315	Headache
HP:0000953	Hyperpigmentation of the skin
HP:0001097	Keratoconjunctivitis sicca
HP:0003326	Myalgia
HP:0200097	Oral mucosal blisters
HP:0200136	Oral-pharyngeal dysphagia
HP:0025439	Pharyngitis
HP:0002098	Respiratory distress
HP:0012384	Rhinitis
HP:0000988	Skin rash
HP:0200042	Skin ulcer
Occasional (29-5%)
HP:0003270	Abdominal distention
HP:0004378	Abnormality of the anus
HP:0001600	Abnormality of the larynx
HP:0000036	Abnormality of the penis
HP:0001919	Acute kidney injury
HP:0012122	Anterior uveitis
HP:0012375	Chemosis
HP:0200020	Corneal erosion
HP:0001875	Decreased total neutrophil count
HP:0000716	Depression
HP:0002014	Diarrhea
HP:0100518	Dysuria
HP:0004386	Gastrointestinal inflammation
HP:0011354	Generalized abnormality of skin
HP:0000790	Hematuria
HP:0001010	Hypopigmentation of the skin
HP:0031731	Increased tear production
HP:0000491	Keratitis
HP:0012594	Microalbuminuria
HP:0008404	Nail dystrophy
HP:0010285	Oral synechia
HP:0000613	Photophobia
HP:0002090	Pneumonia
HP:0008682	Renal tubular epithelial necrosis
HP:0004887	Respiratory failure requiring assisted ventilation
HP:0430007	Symblepharon
HP:0001128	Trichiasis
HP:0031088	Vaginal dryness
HP:0025416	Vaginal stricture
HP:0000572	Visual loss
HP:0030943	Vulvodynia
HP:0000217	Xerostomia
Very rare (<4-1%)
HP:0001798	Anonychia
HP:0000618	Blindness
HP:0006528	Chronic lung disease
HP:0031368	Intestinal perforation
HP:0100806	Sepsis

Run the differential on the 5 obligate / very frequent terms

Annotation source: 8420497[PMID]_27716721[PMID]_26481651[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/95455
This record as JSON: /data/d/95455.json