Epidermolysis bullosa simplex with pyloric atresia
Synonyms: EBS with pyloric atresia · EBS-PA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolysis bullosa simplex with pyloric atresia | EBS with pyloric atresia · EBS-PA |
| fr | Epidermolyse bulleuse simple avec atrésie du pylore | EBS avec atrésie du pylore · EBS-PA |
| de | Epidermolysis bullosa simplex mit Pylorusatresie | EBS-PA |
| es | Epidermólisis ampollosa simple con atresia pilórica | EBS con atresia pilórica · Epidermólisis bullosa simple con atresia pilórica |
| it | Epidermolisi bollosa semplice con atresia pilorica | EBS con atresia pilorica · EBS-PA |
| nl | Epidermolysis bullosa simplex met pylorusatresie | EBS met pylorusatresie · EBS-PA |
| pt | Epidermólise bolhosa simples com atrésia do piloro | EBS-PA |
| pl | Postać prosta pęcherzowego oddzielania się naskórka z atrezją odźwiernika | Postać prosta pęcherzowego oddzielania się naskórka z zarośniętym odźwiernikiem |
| cs | Prostá bulózní epidermolýza s atrezií pyloru | EBS-PA |
| uk | Простий бульозний епідермоліз з пілоричною атрезією | ЕБС з атрезією пілоричного відділу шлунка · EBS-PA |
| zh | 单纯性大疱性表皮松解症伴幽门闭锁 | = en |
| tr | Pilorik atrezi ile seyreden epidermolizis bülloza simpleks | EBS-PA |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612138 | E | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | index | validated |
| MONDO | 0012807 | E | validated | |
| MeSH | C567408 | E | validated | |
| UMLS | C2677349 | 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:595351Epidermolysis bullosa simplex with extracutaneous involvement
rare genetic diseases; rare skin diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITGB4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6158 | ENSG00000132470 | 147557 | 17q25.1 | integrin subunit beta 4 | |
| PLEC | Disease-causing germline mutation(s) in | Assessed | HGNC:9069 | ENSG00000178209 | 601282 | 8q24.3 | plectin | 20052759[PMID]_20301336[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
29 annotations · validated 2021-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001057 | Aplasia cutis congenita | |
| HP:0004399 | Congenital pyloric atresia | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001030 | Fragile skin | |
| HP:0003341 | Junctional split | |
| HP:0200097 | Oral mucosal blisters | |
| HP:0200041 | Skin erosion | |
| HP:0007585 | Skin fragility with non-scarring blistering | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0000795 | Abnormality of the urethra | |
| HP:0007385 | Aplasia cutis congenita of scalp | |
| HP:0007589 | Aplasia cutis congenita on trunk or limbs | |
| HP:0010477 | Aplasia of the bladder | |
| HP:0001075 | Atrophic scars | |
| HP:0001371 | Flexion contracture | |
| HP:0000096 | Glomerulosclerosis | |
| HP:0000126 | Hydronephrosis | |
| HP:0008551 | Microtia | |
| HP:0001056 | Milia | |
| HP:0003560 | Muscular dystrophy | |
| HP:0008404 | Nail dystrophy | |
| HP:0001561 | Polyhydramnios | |
| HP:0000075 | Renal duplication | |
| HP:0000110 | Renal dysplasia | |
| HP:0004552 | Scarring alopecia of scalp | |
| HP:0000070 | Ureterocele | |
Annotation source: 23289980[PMID]_31513275[PMID]_25530118[PMID]_20301336[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158684
- This record as JSON: /data/d/158684.json