IgA pemphigus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IgA pemphigus | |
| fr | Pemphigus à IgA | |
| de | IgA-Pemphigus | |
| es | Pénfigo IgA | |
| it | Pemfigo ad IgA | |
| nl | IgA-pemfigus | |
| pt | Penfigo IgA | |
| pl | Pęcherzyca IgA | |
| cs | IgA pemfigus | |
| uk | IgA пемфігус | |
| zh | IgA天疱疮 | |
| tr | IgA pemfigus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L10.8 | NTBT | attributed | validated |
| ICD-11 | EB40.Y | NTBT | index | validated |
| MONDO | 0034127 | E | validated | |
| UMLS | C1274167 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_30085605[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
19 annotations · validated 2021-06-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0031234 | Neutrophilic infiltration of the skin | |
| HP:0200037 | Skin vesicle | |
| Frequent (79-30%) | ||
| HP:0100792 | Acantholysis | |
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0031539 | Linear IgA deposits along the epidermal basement membrane zone | |
| HP:0200097 | Oral mucosal blisters | |
| HP:0012531 | Pain | |
| HP:0000989 | Pruritus | |
| HP:0200039 | Pustule | |
| HP:0200041 | Skin erosion | |
| HP:0200035 | Skin plaque | |
| Occasional (29-5%) | ||
| HP:0025528 | Annular cutaneous lesion | |
| HP:0031292 | Cutaneous abscess | |
| HP:0003261 | Increased circulating IgA level | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0032335 | Monoclonal elevation of circulating IgA | |
| HP:0100279 | Ulcerative colitis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 31812619[PMID]_30085605[PMID]_27279313[PMID]_26566588[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/555905
- This record as JSON: /data/d/555905.json