Dystrophic epidermolysis bullosa
Synonyms: DEB · Dermolytic epidermolysis bullosa · Epidermolysis bullosa dystrophica
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A group of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dystrophic epidermolysis bullosa | DEB · Dermolytic epidermolysis bullosa · Epidermolysis bullosa dystrophica |
| fr | Epidermolyse bulleuse dystrophique | EBD · Epidermolyse bulleuse dermolytique |
| de | Epidermolysis bullosa, dystrophe | DEB · EBD · Epidermolysis bullosa dystrophica · Epidermolysis bullosa, dermolytische |
| es | Epidermólisis ampollosa distrófica | DEB · Epidermólisis ampollosa dermolítica · Epidermólisis bullosa dermolítica · Epidermólisis bullosa distrófica |
| it | Epidermolisi bollosa distrofica | DEB · Epidermolisi bollosa dermolitica |
| nl | Dystrofische epidermolysis bullosa | DEB · Dermolytische epidermolysis bullosa · EBD · Epidermolysis bullosa dystrophica |
| pt | Epidermólise bolhosa distrófica | EBD · Epidermólise bolhosa dermolítica · Epidermólise bulhosa dermolítica |
| pl | Pęcherzowe oddzielanie się naskórka postać dystroficzna | DEB |
| cs | Dystrofická epidermolysis bullosa | DEB · Dermolytická epidermolysis bullosa · Epidermolysis bullosa dystrophica |
| uk | Дистрофічний бульозний епідермоліз | DEB · Бульозний дермолітичний епідермоліз · Бульозний дистрофічний епідермоліз |
| zh | 营养不良大疱性表皮松解症 | 营养不良性大疱性表皮松解症 |
| tr | Distrofik epidermolizis bülloza | DEB · Dermolitik epidermolizis bülloza · Epidermolizis bülloza distrofika |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q81.2 | E | specific | validated |
| ICD-11 | EC32 | E | specific | validated |
| MONDO | 0006543 | E | validated | |
| MONDO | 6543 | E | validated | |
| MeSH | D016108 | E | validated | |
| UMLS | C0079294 | E | validated | |
| GARD | 2150 | 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 (3):
- ORPHA:79361Inherited epidermolysis bullosa
rare genetic diseases; rare skin diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:717868Rare skin disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
Children (7):
- ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa
- ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- ORPHA:89843Dystrophic epidermolysis bullosa pruriginosa
- ORPHA:595356Localized dystrophic epidermolysis bullosa
- ORPHA:79409Recessive dystrophic epidermolysis bullosa inversa
- ORPHA:79411Self-improving dystrophic epidermolysis bullosa
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.572 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | Spain | Value and class | Validated | 23809583[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.39 / 100 000 | Australia | Value and class | Validated | 20566927[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.14 / 100 000 | United States | Value and class | Validated | 27463098[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.28 / 100 000 | Romania | Value and class | Validated | 25201089[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.83 / 100 000 | Netherlands | Value and class | Validated | 33095945[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.41 / 100 000 | Netherlands | Value and class | Validated | 33095945[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/303
- This record as JSON: /data/d/303.json