title: Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation.
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.
authors.affiliation: Department of Dermatology, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan.
authors.forename: Fumihide
authors.initials: F
authors.lastname: Ogawa
authors.forename: Masako
authors.initials: M
authors.lastname: Udono
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Murota
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Shimizu
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takahashi
authors.forename: Akemi
authors.initials: A
authors.lastname: Ishida-Yamamoto
authors.forename: Hajime
authors.initials: H
authors.lastname: Iizuka
authors.forename: Ichiro
authors.initials: I
authors.lastname: Katayama
mesh_terms: D000230:Adenocarcinoma / Q000150:complications*; D002294:Carcinoma, Squamous Cell / Q000150:complications*; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008175:Lung Neoplasms / Q000150:complications*; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009378:Neoplasms, Multiple Primary; D010014:Osteolysis / Q000150:complications; D012878:Skin Neoplasms / Q000150:complications*; D013577:Syndrome
chemical_list: D008565:Membrane Proteins; C064554:loricrin