Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body

Br J Dermatol. 2018 Nov;179(5):1192-1194. doi: 10.1111/bjd.16912. Epub 2018 Aug 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Alopecia / diagnosis
  • Alopecia / genetics*
  • Antigens, Ly / genetics*
  • Biopsy
  • Cation Transport Proteins / genetics*
  • Consanguinity
  • DNA Mutational Analysis
  • Dermatitis, Exfoliative / diagnosis
  • Dermatitis, Exfoliative / genetics*
  • Dermatitis, Exfoliative / pathology
  • Exome Sequencing
  • Humans
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Male
  • Mutation
  • Skin / pathology
  • Urokinase-Type Plasminogen Activator / genetics*

Substances

  • Antigens, Ly
  • Cation Transport Proteins
  • SLC39A4 protein, human
  • SLURP1 protein, human
  • Urokinase-Type Plasminogen Activator