What is the pathophysiology of epidermolytic ichthyosis (EI)?

Updated: Aug 23, 2019
  • Author: Brittany G Craiglow, MD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Epidermolytic ichthyosis results from heterozygous mutations in the genes encoding keratin 1 (KRT1) and keratin 10 (KRT10). Mutations cause defects that compromise keratin alignment and assembly of intermediate filaments, leading to cellular collapse, blistering, and impaired barrier function. Compensatory hyperproliferation leads to hyperkeratosis.


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