epidermolysis bullosa simplex with pyloric atresia (EBS-PA)

Genetics

• autosomal recessive
• associated with defects in PLEC
• allelic to EBS-DM

Clinical manifestations

• severe skin blistering at birth
• congenital pyloric atresia
• death usually occurs in infancy

More general terms

• epidermolysis bullosa simplex (EBS)

Database

• OMIM: https://mirror.omim.org/entry/612138