PLACK syndrome resulting from a new homozygous insertion mutation in CAST

J Dermatol Sci. 2017 Nov;88(2):256-258. doi: 10.1016/j.jdermsci.2017.06.004. Epub 2017 Jun 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Calcium-Binding Proteins / genetics*
  • Cheilitis / genetics*
  • Child
  • Consanguinity
  • Dermatitis, Exfoliative / genetics*
  • Homozygote
  • Humans
  • Hypopigmentation / genetics*
  • Keratosis / genetics*
  • Male
  • Mutation
  • Nail Diseases / congenital*
  • Nail Diseases / genetics
  • Skin Diseases, Genetic / genetics*
  • Syndrome

Substances

  • CAST protein, human
  • Calcium-Binding Proteins
  • calpastatin

Supplementary concepts

  • Leukonychia totalis
  • Peeling Skin Syndrome