Localized junctional epidermolysis bullosa
Synonyms: JEB-nH loc · Junctional epidermolysis bullosa, non-Herlitz localized type · Localized JEB
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Localized junctional epidermolysis bullosa | JEB-nH loc · Junctional epidermolysis bullosa, non-Herlitz localized type · Localized JEB |
| fr | Epidermolyse bulleuse jonctionnelle localisée | EBJ localisée · EBJ-nH loc · Epidermolyse bulleuse jonctionnelle type non-Herlitz localisé |
| de | Epidermolysis bullosa, junktionale lokalisierte | Epidermolysis bullosa, junktionale lokalisierte, non-Herlitz Typ · JEB, lokalisierte · JEB-nH loc |
| es | Epidermólisis ampollosa juntural localizada | Epidermólisis ampollosa juntural localizada tipo no Herlitz · Epidermólisis bullosa juntural localizada · JEB localizada |
| it | Epidermolisi bollosa giunzionale localizzata | Epidermolisi bollosa giunzionale, tipo non-Herlitz localizzato · JEB localizzata · JEB-nH loc |
| nl | Gelokaliseerde junctionele epidermolysis bullosa | Gelokaliseerde JEB · JEB-nH loc · Junctionele epidermolysis bullosa, niet-Herlitz gelokaliseerd type |
| pt | Epidermólise bolhosa juncional localizada | JEB localizada |
| pl | Pęcherzowe oddzielanie się naskórka zlokalizowane łączące | = en |
| cs | Lokalizovaná junkční epidermolysis bullosa, non-Herlitzův typ | JEB-nH loc |
| uk | Локалізований межовий бульозний епідермоліз | JEB-nH loc · Бульозний епідермоліз суглобів, не-Герліц-локалізований тип · Локалізований JEB |
| zh | 局限性结合型大疱性表皮松解症，非herlitz型 | = en |
| tr | Lokalize kavşak epidermolizis bülloza, Herlitz olmayan tip | JEB-nH loc |
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 | 0016673 | E | validated | |
| UMLS | C0474889 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL17A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2194 | ENSG00000065618 | 113811 | 10q25.1 | collagen type XVII alpha 1 chain | |
| ITGB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6158 | ENSG00000132470 | 147557 | 17q25.1 | integrin subunit beta 4 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 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
19 annotations · validated 2020-02-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001030 | Fragile skin | |
| Frequent (79-30%) | ||
| HP:0011073 | Abnormality of dental color | |
| HP:0031045 | Acral blistering | |
| HP:0004529 | Atrophic, patchy alopecia | |
| HP:0009722 | Dental enamel pits | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0008404 | Nail dystrophy | |
| HP:0032156 | Skin detachment | |
| HP:0002215 | Sparse axillary hair | |
| HP:0002225 | Sparse pubic hair | |
| Occasional (29-5%) | ||
| HP:0001057 | Aplasia cutis congenita | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0004552 | Scarring alopecia of scalp | |
| Very rare (<4-1%) | ||
| HP:0000987 | Atypical scarring of skin | |
| HP:0003121 | Limb joint contracture | |
| HP:0001056 | Milia | |
| HP:0004057 | Mitten deformity | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28599695[PMID]_20301304[PMID]_2052329[PMID]_7706760[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251393
- This record as JSON: /data/d/251393.json