What causes epidermolytic ichthyosis (EI)?

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

Defects in genes for keratin 1 (KRT1) and 10 (KRT10) are the cause of epidermolytic ichthyosis. [1, 2, 3, 4, 5] Usually, these mutations are missense substitutions into the highly conserved alpha-helical rod and the nonhelical H1 domains of the keratin proteins. [6]

Palmoplantar keratoderma is usually associated with KRT1 mutations; however, in rare cases, palmoplantar keratoderma may be observed in patients with KRT10 mutations. [7] Novel mutations in both genes continue to be reported.

Patients with generalized epidermolytic ichthyosis may be born to parents with epidermolytic epidermal nevi (mosaic epidermolytic ichthyosis). [8, 9] Epidermal nevi with histologic changes of epidermolytic hyperkeratosis are caused by postzygotic mutations in keratin 1 or keratin 10. If the mutation also involves gonadal cells, which is thought to be more likely in patients with more extensive cutaneous involvement, affected individuals can have offspring with generalized epidermolytic ichthyosis.


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