Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

Nat Genet. 1994 Aug;7(4):485-90. doi: 10.1038/ng0894-485.


Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have identified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot. Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • DNA Primers / genetics
  • Diagnosis, Differential
  • Female
  • Genes, Dominant
  • Humans
  • Hyperkeratosis, Epidermolytic / diagnosis
  • Hyperkeratosis, Epidermolytic / genetics*
  • Hyperkeratosis, Epidermolytic / pathology
  • Ichthyosis / diagnosis
  • Ichthyosis / genetics*
  • Ichthyosis / pathology
  • Keratin-2
  • Keratins / chemistry
  • Keratins / genetics*
  • Male
  • Molecular Sequence Data
  • Molecular Structure
  • Mutation
  • Pedigree


  • DNA Primers
  • KRT2 protein, human
  • Keratin-2
  • Keratins
  • DNA