Cowden's syndrome. Case report, with reference to an affected family.
Cowden's syndrome is a rare genodermatosis characterized by multiple hamartomas in several tissues and organs derived from all three embryonic layers. Clinical features of Cowden's disease are explained by the mutation of the PTEN tumour suppressor gene, whose modification leads to an uncoordinated growth of tissues. The importance of this disease lies in the increased susceptibility to malignization of some lesions, specially breast, thyroid and genito-urinary tract lesions. As a result, the disease has been considered a preneoplasic condition. Despite its varied phenotypic expression, this disease is generally unknown. Consequently, many cases are undiagnosed or diagnosis comes at a late stage, what points out the importance of an early diagnosis of the disease so the patient can have periodic check-ups to prevent malignant diseases. A family case is presented here, whose diagnosis was based upon oral clinical findings and which most distinct systemic alteration is the presence of hamartomatous polyps in the digestive tract in several family members.
Blanco
Verónica
V
School of Dentistry, UDELAR, Montevideo. verokeoc@hotmail.com
Keochgerián
Verónica
V
D000328:Adult; D005192:Family Health; D006223:Hamartoma Syndrome, Multiple / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007417:Intestinal Polyps / Q000209:etiology; D008297:Male; D008875:Middle Aged; D009061:Mouth Mucosa / Q000473:pathology*; D009062:Mouth Neoplasms / Q000209:etiology* / Q000473:pathology; D051059:PTEN Phosphohydrolase / Q000235:genetics; D010212:Papilloma / Q000209:etiology* / Q000473:pathology
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human