Junctional epidermolysis bullosa inversa
Synonyms: JEB inversa · JEB-I
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Junctional epidermolysis bullosa inversa | JEB inversa · JEB-I |
| fr | Epidermolyse bulleuse jonctionnelle inversée | EBJ inversée · EBJ-I |
| de | Epidermolysis bullosa inversa, junktionale | EBJ-I · JEB inversa · JEB-I |
| es | Epidermólisis ampollosa juntural inversa | Epidermólisis bullosa juntural inversa · JEB inversa |
| it | Epidermolisi bollosa giunzionale inversa | = en |
| nl | Junctionele epidermolysis bullosa inversa | = en |
| pt | Epidermólise bolhosa juncional inversa | |
| pl | Pęcherzowe oddzielenie się naskórka graniczne odwrócone | = en |
| cs | Junkční epidermolysis bullosa inversa | EBJ-I · Inverzní JEB · JEB-I |
| uk | Межовий бульозний епідермоліз інверсний | БЕЗ inversa · БЕЗ-I |
| zh | 交界型大疱性表皮松解症，相反型 | 反向性JEB |
| tr | Junctional epidermolizis bülloza inversa | EBJ-I · JEB-I · Ters JEB |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226650 | NTBT | validated | |
| ICD-10 | Q81.8 | NTBT | attributed | validated |
| ICD-11 | EC31 | NTBT | index | validated |
| MONDO | 0019308 | E | validated | |
| UMLS | C2673609 | 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 (2):
- ORPHA:305Junctional epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
25 annotations · validated 2020-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000670 | Carious teeth | |
| HP:0011355 | Localized skin lesion | |
| Frequent (79-30%) | ||
| HP:0001075 | Atrophic scars | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0001030 | Fragile skin | |
| HP:0008404 | Nail dystrophy | |
| Occasional (29-5%) | ||
| HP:0001798 | Anonychia | |
| HP:0004386 | Gastrointestinal inflammation | |
| HP:0020117 | Hypoplastic dermoepidermal hemidesmosomes | |
| HP:0001056 | Milia | |
| HP:0200097 | Oral mucosal blisters | |
| Excluded (0%) | ||
| HP:0012252 | Abnormal respiratory system morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0001965 | Abnormality of the scalp | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001903 | Anemia | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0031464 | Genital blistering | |
| HP:0001510 | Growth delay | |
| HP:0010562 | Keloids | |
| HP:0004057 | Mitten deformity | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 24690439[PMID]_20301304[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79405
- This record as JSON: /data/d/79405.json