Late-onset junctional epidermolysis bullosa
Synonyms: Epidermolysis bullosa progressiva · JEB-lo · Late-onset JEB
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Late-onset junctional epidermolysis bullosa | Epidermolysis bullosa progressiva · JEB-lo · Late-onset JEB |
| fr | Epidermolyse bulleuse jonctionnelle à début tardif | EBJ à début tardif |
| de | Epidermolysis bullosa, junktionale, spät beginnende | Epidermolysis bullosa progressiva · JEB-lo |
| es | Epidermólisis ampollosa juntural de inicio tardío | Epidermólisis ampollosa progresiva · Epidermólisis bullosa juntural de inicio tardío · JEB de inicio tardío |
| it | Epidermolisi bollosa giunzionale a esordio tardivo | EB progressiva · JEB-lo |
| nl | Junctionele epidermolysis bullosa met late aanvang | Epidermolysis bullosa progressiva · JEB met late aanvang · JEB-lo · Laat optredende epidermolysis bullosa junctionalis |
| pt | Epidermólise bolhosa juncional de início tardio | |
| pl | Pęcherzowe oddzielanie się naskórka łączące o późnym początku | EB postępujące · JEB-lo |
| cs | Junkční epidermolysis bullosa s pozdním nástupem | Progresivní EB · JEB-lo |
| uk | Межовий бульозний епідермоліз з пізнім початком | Прогресуючий бульозний епідермоліз · БЕЗ-lo · БЕЗ з пізнім початком |
| zh | 迟发性交界型大疱性表皮松解症 | 进展性EB |
| tr | Geç başlangıçlı junctional epidermolizis bülloza | JEB-lo · EB ilerleyici |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619787 | E | validated | |
| ICD-10 | Q81.8 | NTBT | attributed | validated |
| ICD-11 | EC31 | NTBT | index | validated |
| MONDO | 0019309 | E | validated | |
| UMLS | C4304724 | 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
1 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 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 37 cases | Worldwide | Case(s) | Validated | [EXPERT]_24005051[PMID] | |
| 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
27 annotations · validated 2020-06-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0007455 | Adermatoglyphia | |
| HP:0001798 | Anonychia | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0001030 | Fragile skin | |
| HP:0008404 | Nail dystrophy | |
| Occasional (29-5%) | ||
| HP:0000670 | Carious teeth | |
| HP:0000975 | Hyperhidrosis | |
| HP:0020117 | Hypoplastic dermoepidermal hemidesmosomes | |
| HP:0011355 | Localized skin lesion | |
| 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:0001075 | Atrophic scars | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0004386 | Gastrointestinal inflammation | |
| HP:0031464 | Genital blistering | |
| HP:0001510 | Growth delay | |
| HP:0010562 | Keloids | |
| HP:0001056 | Milia | |
| HP:0004057 | Mitten deformity | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0002860 | Squamous cell carcinoma | |
Annotation source: 24690439[PMID]_20301304[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79406
- This record as JSON: /data/d/79406.json