A 52-year-old white male presented at the UDELAR Dental School due to pain caused by an exophytic lesion in the right jugular mucosa.
The presence of occasional intestinal bleeding arises as a personal medical history.
Among the family history, the following stand out: father who died due to intestinal tumor, brother who had undergone intestinal resection and sister who had recently undergone hysterectomy with bilateral oophorectomy; the family was the reason for this intervention.
The patient has three healthy male children.
Clinical examination revealed large skull circumference, hypertelorism, wide nasal bridge, prominent forehead and fascia.
Around the facial orifices, multiple asymptomatic papular lesions of skin color are observed.
Careful clinical examination of the rest of the skin reveals the presence of palmoplantal keratosis, mimicking flat viral infections and papular lesions other than chest stenosis and armpits,
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Oral examination showed: partial edentulous maxilla, total edentulous maxilla (upper complete denture holder), deep palate and fissured tongue.
The mucosa is covered by asymptomatic, rounded papular lesions with defined edges, with no changes in color, sessile surface or pedunculated and of variable size (not more than 1 cm).
They are located in cheeks, ridges, adhered gums, lips and tongue.
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The injury reason for consultation is in the cheek in the occlusal line; it is the largest and suffers trauma from the prosthesis.
Biopsy exeresis shows a nonspecific papillomatous lesion.
With the presumption of Cowden's disease, the patient is referred to a multidisciplinary team composed of gene, dermatologist, gastroenterologist and internist.
Cranial computed tomography (CT) showed no abnormalities and end intestinal stenosis evidence in mantle.
Pathological report indicates hyperplastic, an assertive type that associates dysplastic changes.
Paraclinical tests and the phenotypic characteristics of the patient determined that the gene polymorphism confirmed the diagnosis of Cowden's disease.
To date, no genetic material studies have been performed.
The children are then cited for examination.
The median child (21 years) has one of the clinical characteristics of the disease (see Table 1).
The 27-year-old child weakly expresses the phenotype of the syndrome, while the child under 13 years old so far does not manifest alterations.
