raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:305

Junctional epidermolysis bullosa

Synonyms: Epidermolysis bullosa atrophicans · JEB

Type
Clinical group
Group
Group of disorders
Inheritance
Autosomal recessive
Age of onset
Adolescent, Antenatal, Infancy, Neonatal
Status
active

A group of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enJunctional epidermolysis bullosaEpidermolysis bullosa atrophicans · JEB
frEpidermolyse bulleuse jonctionnelleEBJ
deEpidermolysis bullosa, junktionaleEBJ · Epidermolysis bullosa atrophicans · JEB
esEpidermólisis ampollosa junturalEpidermólisis ampollosa atrófica · Epidermólisis bullosa juntural
itEpidermolisi bollosa giunzionaleEBJ · Epidermolisi bollosa atrofica · Epidermolysis bullosa atrophicans · JEB
nlJunctionele epidermolysis bullosa= en
ptEpidermólise bolhosa juncionalEBJ
plPęcherzowe oddzielanie się naskórka postać granicznaPęcherzowe oddzielanie się naskórka stadium atroficzne
csJunkční epidermolysis bullosaEBJ · Epidermolysis bullosa atrophicans · JEB
ukМежовий бульозний епідермолізАтрофічний бульозний епідермоліз · JEB
zh交界型大疱性表皮松解症萎缩性大疱性表皮松解症
trKavşak epidermolizis büllozaEBJ · JEB · Epidermolizis bülloza atrofikanlar

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-11EC31Especificvalidated
MONDO0017612Evalidated
MONDO17612Evalidated
MeSHD016109Evalidated
UMLSC0079301Evalidated
GARD2152Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

Children (9):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

13 records
TypeClassValueAreaQualificationValidationSource
Point prevalence<1 / 1 000 000—WorldwideClass onlyNot yet validatedORPHANET
Point prevalence<1 / 1 000 000—EuropeClass onlyNot yet validatedORPHANET
Point prevalence<1 / 1 000 0000.08 / 100 000SwedenValue and classValidatedISBN:443048517[OTHER]
Point prevalence<1 / 1 000 0000.07 / 100 000IrelandValue and classValidated1419751[PMID]
Point prevalence<1 / 1 000 0000.02 / 100 000FinlandValue and classValidated6203284[PMID]
Prevalence at birth1-9 / 1 000 0000.38 / 100 000ItalyValue and classValidated[EXPERT]
Point prevalence<1 / 1 000 0000.07 / 100 000AustraliaValue and classValidated20566927[PMID]
Point prevalence<1 / 1 000 0000.02 / 100 000JapanValue and classValidated2601109[PMID]
Prevalence at birth1-9 / 1 000 0000.22 / 100 000United StatesValue and classValidatedISBN:801860245[OTHER]
Point prevalence<1 / 1 000 0000.04 / 100 000United StatesValue and classValidatedISBN:801860245[OTHER]
Point prevalence<1 / 1 000 0000.07 / 100 000South AfricaValue and classValidatedISBN:951563203[OTHER]
Annual incidence1-9 / 1 000 0000.93 / 100 000NetherlandsValue and classValidated33095945[PMID]
Point prevalence1-9 / 1 000 0000.21 / 100 000NetherlandsValue and classValidated33095945[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card