Autosomal recessive generalized epidermolysis bullosa simplex
Synonyms: Autosomal recessive generalized EBS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive generalized epidermolysis bullosa simplex | Autosomal recessive generalized EBS |
| fr | Epidermolyse bulleuse simple généralisée autosomique récessive | EBS généralisée autosomique récessive |
| de | Epidermolysis bullosa simplex, generalisierte, autosomal-rezessive | EBS, generalisierte, autosomal-rezessive |
| es | Epidermólisis ampollosa simple generalizada autosómica recesiva | EBS generalizada autosómica recesiva · Epidermólisis bullosa simple generalizada autosómica recesiva |
| it | Epidermolisi bollosa semplice generalizzata autosomica recessiva | EBS generalizzata autosomica recessiva |
| nl | Autosomaal recessieve gegeneraliseerde epidermolysis bullosa simplex | Autosomaal recessieve gegeneraliseerde EBS |
| pt | Epidermólise bolhosa generalizada simples autossómica recessiva | |
| pl | Autosomalne recesywne pęcherzowe oddzielanie się naskórka, postać prosta | Pęcherzowe oddzielanie się naskórka, postać prosta autosomalna recesywna |
| cs | KRT14-vázaná epidermolysis bullosa simplex | EBS-AR KRT14 |
| uk | Аутосомно-рецесивний простий генералізований бульозний епідермоліз | Аутосомно-рецесивний генералізований ЕБС |
| zh | 单纯型大疱性表皮松解症，常染色体隐性遗传K14型 | KRT14相关常染色体隐性遗传性单纯型大疱性表皮松解症 |
| tr | Epidermolizis bülloza simpleks, otozomal resesif K14 | EBS-AR KRT14 · EBS, otozomal çekinik K14 · KRT14-ilişkili otozomal çekinik EBS · KRT14-ilişkili otozomal çekinik epidermoliz bülloza simpleks |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601001 | E | validated | |
| OMIM | 619599 | BTNT | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | attributed | validated |
| MONDO | 0010976 | E | validated | |
| UMLS | C5680184 | 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
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 | 7526933[PMID] |
| KRT5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6442 | ENSG00000186081 | 148040 | 12q13.13 | keratin 5 | 31312705[PMID]_31302245[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
20 annotations · validated 2021-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000962 | Hyperkeratosis | |
| HP:0200097 | Oral mucosal blisters | |
| HP:0007446 | Palmoplantar blistering | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0200041 | Skin erosion | |
| Occasional (29-5%) | ||
| HP:0001802 | Absent toenail | |
| HP:0007589 | Aplasia cutis congenita on trunk or limbs | |
| HP:0001075 | Atrophic scars | |
| HP:0001810 | Dystrophic toenail | |
| HP:0001508 | Failure to thrive | |
| HP:0031464 | Genital blistering | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001056 | Milia | |
| HP:0003764 | Nevus | |
| HP:0000989 | Pruritus | |
| HP:0001807 | Ridged nail | |
Annotation source: 18713255[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/89838
- This record as JSON: /data/d/89838.json