Bullous pemphigoid
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bullous pemphigoid | |
| fr | Pemphigoïde bulleuse | |
| de | Pemphigoid, bullöses | |
| es | Penfigoide ampolloso | Penfigoide bulloso |
| it | Pemfigoide bolloso | |
| nl | Bulleus pemfigoïd | |
| pt | Penfigoide bolhoso | |
| pl | Pemfigoid pęcherzowy | |
| cs | Bulózní pemfigoid | |
| uk | Бульозний пемфігоїд | |
| zh | 大疱性类天疱疮 | |
| tr | Büllöz pemfigoid |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L12.0 | E | specific | validated |
| ICD-11 | EB41.0 | E | specific | validated |
| MONDO | 0019082 | E | validated | |
| MeSH | D010391 | E | validated | |
| UMLS | C0030805 | E | validated | |
| GARD | 5972 | E | validated | |
| MedDRA | 10006567 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HLA-DRB1 | Candidate gene tested in | Not yet assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | 8710911[PMID]_23806156[PMID] |
| HLA-DQB1 | Major susceptibility factor in | Not yet assessed | HGNC:4944 | ENSG00000179344 | 604305 | 6p21.32 | major histocompatibility complex, class II, DQ beta 1 | 8710911[PMID]_23806156[PMID] |
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.17 / 100 000 | France | Value and class | Validated | 22418872[PMID]_23237497[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.34 / 100 000 | Germany | Value and class | Validated | 19170813[PMID] |
| Annual incidence | 1-9 / 100 000 | 4.3 / 100 000 | United Kingdom | Value and class | Validated | 18614511[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.21 / 100 000 | Switzerland | Value and class | Validated | 19566661[PMID] |
| Point prevalence | 1-5 / 10 000 | 25 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2018[OTHER] |
| Point prevalence | 1-5 / 10 000 | 25.93 / 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
15 annotations · validated 2023-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0002960 | Autoimmunity | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0010783 | Erythema | |
| HP:0012733 | Macule | |
| HP:0002719 | Recurrent infections | |
| HP:0001025 | Urticaria | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:4000020 | Anti-BP180 antibody positivity | |
| HP:4000019 | Anti-BP230 antibody positivity | |
| HP:0033106 | Elevated circulating D-dimer concentration | |
| HP:0000989 | Pruritus | |
| HP:0003765 | Psoriasiform dermatitis | |
| Occasional (29-5%) | ||
| HP:0200097 | Oral mucosal blisters | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 31090818[PMID]_282861095[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/703
- This record as JSON: /data/d/703.json