Cowden syndrome: report of two cases and review of clinical presentation and management of a rare colorectal polyposis.
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.
Campos
Fábio Guilherme
FG
Department of Gastroenterology, Colorectal Surgery Unit, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil. fgmcampos@terra.com.br
Habr-Gama
Angelita
A
Kiss
Desidério Roberto
DR
Atuí
Fábio César
FC
Rawet
Viviane
V
Goldstein
Paulo J
PJ
Gama-Rodrigues
Joaquim
J
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
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human