title: Cowden syndrome: report of two cases and review of clinical presentation and management of a rare colorectal polyposis.
abstract: OBJECTIVE
  Cowden syndrome (CS) is a rare and complex disease inherited through an autosomal dominant trait associated with germline mutations of the PTEN gene.
  
  
  OBJECTIVE
  This article reports 2 female patients with classic features of the syndrome and reviews the current guidelines regarding diagnosis and surveillance.
  
  
  METHODS
  Although it exhibits variable clinical expressivity, the diagnosis is based on characteristic mucocutaneous alterations such as multiple facial trichilemmomas, oral mucosal papillomatosis, and acral and palmoplantar keratoses. These manifestations often precede systemic involvement. Extracutaneous lesions include fibrocystic disease of the breast, thyroid goiters or adenomas, multiple polyposis of the gastrointestinal tract, and ovarian cysts. Gastrointestinal polyps are usually asymptomatic, and the risk of gastrointestinal cancer is not greatly increased. Otherwise, an important feature of Cowden's disease is the greater risk of breast and thyroid cancer.
  
  
  CONCLUSIONS
  Because of the potentially serious associations with internal malignancy, early and accurate diagnosis of CS is essential. For this reason, all patients must be screened for occult malignancies and undergo close surveillance throughout lifetime.
authors.affiliation: Department of Gastroenterology, Colorectal Surgery Unit, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil. fgmcampos@terra.com.br
authors.forename: Fábio Guilherme
authors.initials: FG
authors.lastname: Campos
authors.forename: Angelita
authors.initials: A
authors.lastname: Habr-Gama
authors.forename: Desidério Roberto
authors.initials: DR
authors.lastname: Kiss
authors.forename: Fábio César
authors.initials: FC
authors.lastname: Atuí
authors.forename: Viviane
authors.initials: V
authors.lastname: Rawet
authors.forename: Paulo J
authors.initials: PJ
authors.lastname: Goldstein
authors.forename: Joaquim
authors.initials: J
authors.lastname: Gama-Rodrigues
mesh_terms: D000328:Adult; D016145:Endoscopy, Digestive System; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D051059:PTEN Phosphohydrolase / Q000235:genetics
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human