Epidermolysis bullosa acquisita
Synonyms: Acquired epidermolysis bullosa
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of hereditary dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolysis bullosa acquisita | Acquired epidermolysis bullosa |
| fr | Epidermolysis bullosa acquisita | Epidermolyse bulleuse acquise |
| de | Epidermolysis bullosa, erworbene | Epidermolysis bullosa acquisita |
| es | Epidermólisis ampollosa adquirida | Epidermólisis bullosa adquirida |
| it | Epidermolisi bollosa acquisita | |
| nl | Epidermolysis bullosa acquisita | Verworven epidermolysis bullosa |
| pt | Epidermólise bolhosa adquirida | |
| pl | Nabyte pęcherzowe oddzielanie się naskórka | Epidermolysis bullosa acquisita |
| cs | Získaná epidermolysis bullosa | Epidermolysis bullosa acquisita |
| uk | Бульозний епідермоліз набутий | Набутий бульозний епідермоліз |
| zh | 获得性大疱性表皮松解症 | 获得性大疱性表皮松解症 |
| tr | Epidermolizis bülloza akizada | Edinsel epidermolizis bülloza |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L12.3 | E | specific | validated |
| ICD-11 | EB43 | E | specific | validated |
| MONDO | 0018747 | E | validated | |
| MeSH | D016107 | E | validated | |
| UMLS | C0079293 | E | validated | |
| GARD | 6360 | E | validated | |
| MedDRA | 10056508 | 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 (1):
- ORPHA:79669Autoimmune bullous skin disease
rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.03 / 100 000 | Europe | Value and class | Not yet validated | 7826096[PMID]_19170813[PMID]_7669112[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.02 / 100 000 | France | Value and class | Not yet validated | 7826096[PMID]_23237497[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.05 / 100 000 | Germany | Value and class | Validated | 19170813[PMID]_7669112[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.05 / 100 000 | Singapore | Value and class | Validated | 12207586[PMID]_23237497[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.008 / 100 000 | Serbia | Value and class | Validated | 27767273[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.284 / 100 000 | Germany | Value and class | Validated | 27456755[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001595 | Abnormality of the hair | |
| Frequent (79-30%) | ||
| HP:0001056 | Milia | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0008404 | Nail dystrophy | |
| HP:0000989 | Pruritus | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/46487
- This record as JSON: /data/d/46487.json