GTR Home > Conditions/Phenotypes > Epidermolysis bullosa simplex with pyloric atresia

Summary

EBSPA is an autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. In reports of 2 consensus meetings for EB, Fine et al. (2000, 2008) considered EBSPA to be a 'basal' form of simplex EB because the electron microscopy shows that skin cleavage occurs in the lower basal level of the keratinocyte, just above the hemidesmosome. There is often decreased integration of keratin filaments with hemidesmosomes. [from OMIM]

Available tests

35 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: EBS1, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, LGMDR17, PCN, PLEC1, PLEC1b, PLTN, PLEC
    Summary: plectin

Clinical features

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