ORPHA:79400
Localized epidermolysis bullosa simplex
Synonyms: EBS-loc · Epidermolysis bullosa simplex of palms and soles · Epidermolysis bullosa simplex, Weber-Cockayne type · Localized EBS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Localized epidermolysis bullosa simplex | EBS-loc · Epidermolysis bullosa simplex of palms and soles · Epidermolysis bullosa simplex, Weber-Cockayne type · Localized EBS |
| fr | Epidermolyse bulleuse simple localisée | EBS localisée · EBS-loc · Epidermolyse bulleuse simple des mains et des pieds |
| de | Epidermolysis bullosa simplex, lokalisierte | EBS-loc · Epidermolysis bullosa simplex Typ Weber-Cockayne · Epidermolysis bullosa simplex der Handflächen und Fußsohlen |
| es | Epidermólisis ampollosa simple localizada | EBS localizada · Epidermólisis ampollosa simple palmar y plantar · Epidermólisis ampollosa simple tipo Weber-Cockayne · Epidermólisis bullosa simple localizada |
| it | Epidermolisi bollosa semplice localizzata | EBS localizzata · EBS-loc · Epidermolisi bollosa semplice dei palmi e delle piante · Epidermolisi bollosa semplice, tipo Weber-Cockayne |
| nl | Gelokaliseerde epidermolysis bullosa simplex | EBS-loc · Epidermolysis bullosa simplex van handpalmen en voetzolen · Epidermolysis bullosa simplex, Weber-Cockayne-type · Gelokaliseerde EBS |
| pt | Epidermólise bolhosa simples localizada | Epidermólise bolhosa simples tipo Weber-Cockayne |
| pl | Postać prosta pęcherzowego oddzielanie się naskórka zlokalizowana | Pęcherzowe oddzielanie się naskórka proste dłoni i stóp · Pęcherzowe oddzielanie się naskórka proste, typ Webera i Cockayne'a |
| cs | Lokalizovaná forma epidermolysis bullosa simplex | EBS-loc · Epidermolysis bullosa simplex dlaní a plosek · Epidermolysis bullosa simplex, Weberův-Cockayneho typ · Epidermolysis bullosa simplex, Weber-Cockayneho typ |
| uk | Простий локалізований бульозний епідермоліз | БЕС-loc · Простий бульозний епідермоліз долонь і підошов · Простий бульозний епідермоліз, тип Вебера-Кокейна · Локалізований БЕС |
| zh | 局限性单纯性大疱性表皮松解症 | 单纯型大疱性表皮松解症，Weber-Cockayne型 |
| tr | Lokalize epidermolizis bülloza simpleks | EBS-loc · Avuç içi ve tabanda epidermolizis bülloza simpleks · Epidermolizis bülloza simpleks, Weber-Cockayne tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131800 | E | validated | |
| OMIM | 619594 | BTNT | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| MONDO | 7551 | E | validated | |
| UMLS | C0080333 | E | validated | |
| GARD | 2146 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT14 | Disease-causing germline mutation(s) in | Assessed | HGNC:6416 | ENSG00000186847 | 148066 | 17q21.2 | keratin 14 | 20301543[PMID] |
| KRT5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6442 | ENSG00000186081 | 148040 | 12q13.13 | keratin 5 | 20301543[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
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HPO phenotypes
23 annotations · validated 2021-03-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0007497 | Focal friction-related palmoplantar hyperkeratosis | |
| HP:0025238 | Foot pain | |
| HP:0003341 | Junctional split | |
| HP:0007446 | Palmoplantar blistering | |
| HP:0000989 | Pruritus | |
| HP:0007585 | Skin fragility with non-scarring blistering | |
| Frequent (79-30%) | ||
| HP:0003489 | Acute episodes of neuropathic symptoms | |
| HP:0002046 | Heat intolerance | |
| HP:0003401 | Paresthesia | |
| HP:0200035 | Skin plaque | |
| HP:0012513 | Upper limb pain | |
| Occasional (29-5%) | ||
| HP:0031446 | Erosion of oral mucosa | |
| HP:0000975 | Hyperhidrosis | |
| HP:0010765 | Palmar hyperkeratosis | |
| HP:0007556 | Plantar hyperkeratosis | |
| HP:0200041 | Skin erosion | |
| Very rare (<4-1%) | ||
| HP:0001075 | Atrophic scars | |
| HP:0030350 | Erythematous papule | |
| HP:0001056 | Milia | |
| HP:0008404 | Nail dystrophy | |
| HP:0200097 | Oral mucosal blisters | |
| Excluded (0%) | ||
| HP:0009123 | Mixed hypo- and hyperpigmentation of the skin | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301543[PMID]_31039243[PMID]_28659151[PMID]_28561874[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79400
- This record as JSON: /data/d/79400.json