Pemphigus vulgaris
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Childhood, Elderly
- Status
- active
A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pemphigus vulgaris | |
| fr | Pemphigus vulgaire | Pemphigus profond |
| de | Pemphigus vulgaris | |
| es | Pénfigo vulgar | |
| it | Pemfigo volgare | |
| nl | Pemphigus vulgaris | Gewone vorm van pemfigus |
| pt | Pênfigo vulgar | |
| pl | Pęcherzyca zwykła | |
| cs | Pemphigus vulgaris | |
| uk | Пухирчатка вульгарна | |
| zh | 寻常型天疱疮 | |
| tr | Pemfigus vulgaris |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 169610 | BTNT | validated | |
| ICD-10 | L10.0 | E | specific | validated |
| ICD-11 | EB40.0 | E | specific | validated |
| MONDO | 0008219 | E | validated | |
| UMLS | C0030809 | E | validated | |
| GARD | 4270 | E | validated | |
| MedDRA | 10052802 | 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
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.13 / 100 000 | France | Value and class | Validated | 7829889[PMID] |
| Point prevalence | 1-5 / 10 000 | 18 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
| Annual incidence | 1-9 / 1 000 000 | 0.7 / 100 000 | United Kingdom | Value and class | Validated | 18614511[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.076 / 100 000 | Finland | Value and class | Validated | 6187153[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.47 / 100 000 | Bulgaria | Value and class | Validated | 10692058[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.42 / 100 000 | United States | Value and class | Validated | 7416755[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.25 / 100 000 | Tunisia | Value and class | Validated | 7829889[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.482 / 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
20 annotations · validated 2023-09-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100792 | Acantholysis | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0002960 | Autoimmunity | |
| HP:0031446 | Erosion of oral mucosa | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0200097 | Oral mucosal blisters | |
| HP:0100838 | Recurrent cutaneous abscess formation | |
| HP:0002719 | Recurrent infections | |
| HP:0001025 | Urticaria | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:4000013 | Anti-desmoglein-1 antibody positivity | |
| HP:4000014 | Anti-desmoglein-3 antibody positivity | |
| HP:0000739 | Anxiety | |
| HP:0000716 | Depression | |
| HP:0011968 | Feeding difficulties | |
| HP:0034194 | Suprabasal cleavage | |
| Occasional (29-5%) | ||
| HP:0002293 | Alopecia of scalp | |
| HP:0012531 | Pain | |
| Very rare (<4-1%) | ||
| HP:0030351 | Urticarial plaque | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 32809695[PMID]_31819769[PMID]_36204194[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/704
- This record as JSON: /data/d/704.json