A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype

Arch Dermatol. 2011 Jun;147(6):748-50. doi: 10.1001/archdermatol.2011.138.
No abstract available

Publication types

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

MeSH terms

  • Acitretin / therapeutic use
  • Adult
  • Anti-Infective Agents / therapeutic use
  • Antigens, Ly / genetics*
  • Biopsy
  • Homozygote*
  • Humans
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / drug therapy
  • Keratoderma, Palmoplantar / genetics
  • Keratolytic Agents / therapeutic use
  • Male
  • Mutation, Missense*
  • Phenotype
  • Urokinase-Type Plasminogen Activator / genetics*

Substances

  • Anti-Infective Agents
  • Antigens, Ly
  • Keratolytic Agents
  • SLURP1 protein, human
  • Urokinase-Type Plasminogen Activator
  • Acitretin