Epidermolysis bullosa simplex with circinate migratory erythema
Synonyms: EBS with circinate migratory erythema · EBS-migr
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolysis bullosa simplex with circinate migratory erythema | EBS with circinate migratory erythema · EBS-migr |
| fr | Epidermolyse bulleuse simple avec érythème circiné migratoire | EBS avec érythème circiné migratoire · EBS-migr |
| de | Epidermolysis bullosa simplex mit ringförmigem Erythema migrans | EBS-migr |
| es | Epidermólisis ampollosa simple con eritema migratorio circinado | EBS con eritema migratorio circinado · Epidermólisis bullosa simple con eritema migratorio circinado |
| it | Epidermolisi bollosa semplice con eritema migrante circinato | EBS con eritema migrante circinato · EBS-migr |
| nl | Epidermolysis bullosa simplex met circinair migrerend erytheem | EBS-migr · EBS met circinair migrerend erytheem |
| pt | Epidermólise bolhosa simples com eritema migratório circinado | EBS-migr |
| pl | Postać prosta pęcherzowego oddzielania się naskórka z wędrującym rumieniem obrączkowatym | Postać prosta pęcherzowego oddzielania się naskórka-wędrujący rumień |
| cs | Prostá bulózní epidermolýza s circinárním migrujícím erytémem | EBS-migr |
| uk | Простий бульозний епідермоліз з кільцеподібною мігруючою еритемою | ЕБС з циркулярною мігруючою еритемою · EBS-migr |
| zh | 单纯大疱性表皮松懈症伴可迁移性环状红斑 | = en |
| tr | Epidermolizis bülloza simpleks, dolaşımda gezici eritemli | EBS-migr |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609352 | E | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| MONDO | 0012258 | E | validated | |
| MeSH | C563730 | E | validated | |
| UMLS | C1836284 | 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:595346Epidermolysis bullosa simplex without extracutaneous involvement
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6442 | ENSG00000186081 | 148040 | 12q13.13 | keratin 5 | 12925204[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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 2021-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0031045 | Acral blistering | |
| HP:0031180 | Erythema migrans | |
| HP:0007513 | Generalized hypopigmentation | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0003341 | Junctional split | |
| HP:0001036 | Parakeratosis | |
| HP:0000989 | Pruritus | |
| HP:0007585 | Skin fragility with non-scarring blistering | |
| HP:0200037 | Skin vesicle | |
| HP:0005585 | Spotty hyperpigmentation | |
| Occasional (29-5%) | ||
| HP:0002815 | Abnormality of the knee | |
| HP:0000464 | Abnormality of the neck | |
| HP:0007599 | Generalized reticulate brown pigmentation | |
| HP:0012221 | Pretibial blistering | |
| Excluded (0%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0008404 | Nail dystrophy | |
| HP:0200097 | Oral mucosal blisters | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
Annotation source: 27730678[PMID]_31965605[PMID]_12925204[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158681
- This record as JSON: /data/d/158681.json