A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma

Br J Dermatol. 2009 Jun;160(6):1330-4. doi: 10.1111/j.1365-2133.2009.09084.x. Epub 2009 Mar 9.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Consanguinity
  • DNA Mutational Analysis
  • Ferrochelatase / genetics*
  • Homozygote
  • Humans
  • Keratoderma, Palmoplantar / complications
  • Keratoderma, Palmoplantar / enzymology
  • Keratoderma, Palmoplantar / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Pedigree
  • Protoporphyria, Erythropoietic / complications
  • Protoporphyria, Erythropoietic / enzymology
  • Protoporphyria, Erythropoietic / genetics*

Substances

  • Ferrochelatase