Mucous membrane pemphigoid
Synonyms: Cicatricial pemphigoid · Mucosal pemphigoid · Mucosynechial pemphigoid
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare autoimmune bullous skin disease characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically characterized by IgG, IgA and/or C3 deposits on the epidermal basement membrane. The disease principally involves the oral mucosa, but may also affect ocular, pharyngolaryngeal, genital, and esophageal mucous membranes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mucous membrane pemphigoid | Cicatricial pemphigoid · Mucosal pemphigoid · Mucosynechial pemphigoid |
| fr | Pemphigoïde des membranes muqueuses | Pemphigoïde cicatricielle · Pemphigoïde des muqueuses · Pemphigoïde mucosynechiante |
| de | Schleimhautpemphigoid | Pemphigoid, membranöses muköses · Pemphigoid, vernarbendes |
| es | Penfigoide de la membrana mucosa | Penfigoide cicatricial · Penfigoide mucosinequial · Penfigoide mucoso |
| it | Pemfigo delle membrane mucose | Pemfigo cicatriziale · Pemfigoide delle mucose · Pemfigoide mucosinechiale |
| nl | Slijmvliespemfigoïd | Cicatricieel pemfigoïd · Mucosaal pemfigoïd · Mucosynechiaal pemfigoïd |
| pt | Penfigoide da membrana mucosa | Penfigoide cicatricial · Penfigoide mucosinequial · Penfigoide mucoso |
| pl | Pemfigoid bliznowaciejący | Cicatricial pemphigoid · Mucosynechial pemphigoid · Pemfigoid błon śluzowych |
| cs | Mukózní membranózní pemphigoid | Pemphigoid v jizvě · Slizniční pemphigoid |
| uk | Пемфігоїд слизової оболонки | Рубцевий пемфігоїд · Слизовий пемфігоїд · Мукосинехіальний пемфігоїд |
| zh | 粘膜类天疱疮 | 粘膜粘连性类天疱疮 |
| tr | Mukoza zarı pemfigoid | Mukozal pemfigoid · Sikatrisyel pemfigoid · Mukozineşiyal pemfigoid |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164185 | NTBT | validated | |
| ICD-10 | L12.1 | NTBT | inclusion | validated |
| ICD-11 | EB41.1 | E | specific | validated |
| MONDO | 0018746 | E | validated | |
| UMLS | C0030804 | E | validated | |
| GARD | 5913 | E | validated | |
| MedDRA | 10057052 | 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 (2):
- ORPHA:79669Autoimmune bullous skin disease
rare skin diseases - ORPHA:98567Rare eyelid malposition disorder
rare developmental anomalies during embryogenesis; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.13 / 100 000 | France | Value and class | Validated | 7826096[PMID]_23237497[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.2 / 100 000 | Germany | Value and class | Validated | 19170813[PMID]_23237497[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 2.456 / 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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0200097 | Oral mucosal blisters | |
| Frequent (79-30%) | ||
| HP:0000987 | Atypical scarring of skin | |
| HP:0000230 | Gingivitis | |
| Occasional (29-5%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000618 | Blindness | |
| HP:0007957 | Corneal opacity | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/46486
- This record as JSON: /data/d/46486.json