Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation

Eur J Dermatol. 2003 Nov-Dec;13(6):524-8.

Abstract

Olmsted syndrome is an uncommon disorder of keratinization that presents mutilating palmoplantar keratoderma, periorificial hyperkeratosis, leukokeratosis and alopecia. We report a new case of this rare syndrome diagnosed in 48-year-old woman who developed several squamous cell carcinomas of limbs and adenocarcinoma of the lung. She has been followed up for about 40 years and osteolytic changes of the fingers and toes accompanied the keratinizing disorder and squamous cell carcinoma. Loricrin gene mutation that is occasionally observed in loricrin keratoderma such as Vohwinkel's syndrome was not detected in the present case.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / complications*
  • Carcinoma, Squamous Cell / complications*
  • Female
  • Humans
  • Keratoderma, Palmoplantar / complications*
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Lung Neoplasms / complications*
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Neoplasms, Multiple Primary*
  • Osteolysis / complications
  • Skin Neoplasms / complications*
  • Syndrome

Substances

  • Membrane Proteins
  • loricrin