Epidermolysis bullosa simplex 5c, with pyloric atresia - CISMeF
Epidermolysis bullosa simplex 5c, with pyloric atresiaOMIM Phenotype
Preferred Label : Epidermolysis bullosa simplex 5c, with pyloric atresia;
Symbol : EBS5C;
CISMeF acronym : EBSPA;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : EBSPA; Epidermolysis bullosa simplex with pyloric atresia;
Description : EBS-PA 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 EBS-PA 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.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the plectin 1 gene (PLEC1, 601282.0006);
Laboratory abnormalities : Increased alpha-fetoprotein in the mother during early pregnancy while carrying an
affected fetus;