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

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. Copyright John Libbey Eurotext 2003