epidermolysis bullosa simplex with pyloric atresia
MeSH: C567408ORPHA: 158684
Overview
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with epidermolysis bullosa simplex with pyloric atresia, sourced from HPO and Orphanet clinical annotations.
Abnormality of the urinary systemFragile skinAplasia cutis congenitaVomitingElevated circulating creatine kinase concentrationAbdominal distentionLamina lucida cleavageCongenital pyloric atresiaSkin fragility with non-scarring blisteringAbnormal blistering of the skinSkin erosionOral mucosal blistersUreteroceleRenal duplicationGlomerular sclerosisRenal dysplasiaHydronephrosisAbnormality of the urethraMiliaAtrophic scarsFlexion contracturePolyhydramniosMuscular dystrophyScarring alopecia of scalpAplasia cutis congenita of scalpAplasia cutis congenita on trunk or limbsNail dystrophyMicrotiaAplasia of the bladder
Classification & Codes
MeSH Code
C567408Orphanet Code
ORPHA:158684epidermolysis bullosa simplex with pyloric atresia
| MeSH | C567408 |
| Orphanet | ORPHA:158684 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO