Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1

J Dermatol Sci. 2013 Jun;70(3):220-2. doi: 10.1016/j.jdermsci.2013.03.001. Epub 2013 Mar 14.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Genetic Predisposition to Disease
  • Humans
  • Hyperkeratosis, Epidermolytic / genetics*
  • Hyperkeratosis, Epidermolytic / pathology
  • Ichthyosis Bullosa of Siemens / diagnosis*
  • Ichthyosis Bullosa of Siemens / genetics
  • Ichthyosis Bullosa of Siemens / pathology
  • Keratin-1 / genetics*
  • Male
  • Mutation*
  • Phenotype
  • Predictive Value of Tests
  • Protein Structure, Tertiary
  • Severity of Illness Index
  • Skin / pathology

Substances

  • KRT1 protein, human
  • Keratin-1