ORPHA:79411
Self-improving dystrophic epidermolysis bullosa
Synonyms: Self-improving DEB · Transient bullous dermolysis of the newborn
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Self-improving dystrophic epidermolysis bullosa | Self-improving DEB · Transient bullous dermolysis of the newborn |
| fr | Dermolyse bulleuse transitoire du nouveau-né | EBD à rémission spontanée · Epidermolyse bulleuse dystrophique à rémission spontanée |
| de | Epidermolysis bullosa, dystrophe, selbstheilende Form | DEB, selbstheilende · Dermolyse, bullöse transiente, des Neugeborenen |
| es | Epidermólisis ampollosa distrófica autocurativa | Epidermólisis bullosa distrófica autocurativa · DEB autocurativa · Dermólisis ampollosa transitoria del recién nacido |
| it | Epidermolisi bollosa distrofica con miglioramento spontaneo | DEB con miglioramento spontaneo · Dermolisi bollosa transitoria del neonato |
| nl | Zelfhelende dystrofische epidermolysis bullosa | Transiënte bulleuze dermolyse van neonaat · Zelfhelende DEB |
| pt | Epidermólise bolhosa distrófica regenerativa | DEB regenerativa · Dermólise bolhosa transitória do recém-nascido |
| pl | Pęcherzowe oddzielanie się naskórka dystroficzne samopoprawiające się | Pęcherzowe oddzielanie się naskórka dystroficzne, pęcherzowa dermoliza noworodkowa |
| cs | Tranzientní bulózní dermolýza novorozenců | DEB-BDN · DEB, bulózní dermolýza novorozenců |
| uk | Самовідновлювальний дистрофічний бульозний епідермоліз | ДБЕ, що самопокращується · Транзиторний бульозний дермоліз новонароджених |
| zh | 新生儿暂时性大疱性皮肤松解症 | DEB，新生儿大疱性表皮松解症 |
| tr | Yenidoğanın geçici büllöz dermolizisi | DEB-BDN · DEB, yenidoğanın büllöz dermolizisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131705 | E | validated | |
| ICD-10 | Q81.2 | NTBT | attributed | validated |
| ICD-11 | EC32 | NTBT | index | validated |
| MONDO | 0007548 | E | validated | |
| MeSH | C536979 | E | validated | |
| UMLS | C1851573 | E | validated | |
| GARD | 10010 | E | validated |
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 (1):
- ORPHA:303Dystrophic epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL7A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2214 | ENSG00000114270 | 120120 | 3p21.31 | collagen type VII alpha 1 chain |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 52 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
6
HPO phenotypes
27 annotations · validated 2020-06-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011354 | Generalized abnormality of skin | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0009723 | Abnormality of the subungual region | |
| HP:0001798 | Anonychia | |
| HP:0001075 | Atrophic scars | |
| HP:0001030 | Fragile skin | |
| HP:0001056 | Milia | |
| HP:0008404 | Nail dystrophy | |
| HP:0200097 | Oral mucosal blisters | |
| Occasional (29-5%) | ||
| HP:0001057 | Aplasia cutis congenita | |
| HP:0000670 | Carious teeth | |
| HP:0200041 | Skin erosion | |
| Very rare (<4-1%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| 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:0006297 | Enamel hypoplasia | |
| HP:0004386 | Gastrointestinal inflammation | |
| HP:0031464 | Genital blistering | |
| HP:0001510 | Growth delay | |
| HP:0004057 | Mitten deformity | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301481[PMID]_25639640[PMID]_17501948[PMID]_24690439[PMID]_26864810[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79411
- This record as JSON: /data/d/79411.json