Which clinical history findings are characteristic 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 (EI) presents at birth or shortly thereafter with erythema, blistering, and/or erosions. Phenotype evolves in early infancy to varying degrees of generalized hyperkeratosis.

Epidermolytic ichthyosis is inherited in an autosomal dominant fashion, so patients may have an affected family member; however, as many as half of reported cases arise as a result of sporadic mutations. Rare autosomal recessive cases have also been reported. [10, 11]


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