A 52-year-old white man consulted the Faculty of Dentistry of the UDELAR in Montevideo due to pain caused by an exophytic lesion in the right jugal mucosa.
His personal medical history included occasional intestinal bleeding.
Family history includes: father died of intestinal tumour, brother operated for intestinal polyps and sister recently hysterectomised with bilateral oophorectomy; the family does not know the reason for this intervention.
The patient has three healthy sons.
Clinical examination reveals large head circumference, hypertelorism, broad nasal bridge, prominent forehead and adenoid fascia. Multiple asymptomatic skin-coloured papular lesions are observed around the facial orifices. Careful clinical examination of the rest of the skin reveals palmoplantar keratoses simulating flat viral warts and non-keratotic papular lesions in the axillae, groin and chest.

The oral examination shows: partial edentulous lower jaw, total edentulous upper jaw (full denture upper jaw), deep palate and fissured tongue. The mucosa is covered with asymptomatic, rounded papular lesions with defined borders, without changes in colour, smooth surface, sessile or pedunculated and of variable size (no more than 1 cm). They are located on the cheeks, rims, attached gum, lips and tongue.

The lesion that is the reason for consultation is on the cheek in the occlusal line; it is the largest and suffers trauma due to the prosthesis. His excised biopsy showed a non-specific papillomatous lesion.
With the presumption of Cowden's disease, the patient was referred to a multidisciplinary team comprising a geneticist, dermatologist, gastroenterologist and internist.
A cranial computed tomography (CT) scan was performed, which showed no alterations, and intestinal endoscopy revealed mantle polyps. The anatomopathological report indicated hyperplastic polyps, one of the serrated type associated with dysplastic changes.
The paraclinical examinations and the phenotypic characteristics of the patient led the team of geneticists to confirm the diagnosis of Cowden's disease. To date, no studies of the genetic material have been carried out.
Subsequently, the children are scheduled for testing. The middle son (21 years) has some of the clinical features of the disease (see table 1). The 27-year-old son has a weak expression of the syndrome phenotype, while the youngest son (13 years old) has so far no alterations.

