Treatment of oral hamartomas in a pediatric patient with Cowden’s Syndrome: a case report

Aim. Cowden’s Syndrome (CS) is an autosomal dominant disorder associated with mutations in PTEN (Phosphatase and TENsin homolog), a tumor suppressor gene, that cause the PTEN protein not to work properly. The incidence of CS is around 1/200 000 subjects. Since many of the clinical features of CS are common in the general population (e.g. fibrocystic breast disease, uterine fibroids), this condition is probably under-diagnosed and it could have a higher incidence. Methods. A 14-year-old child came to the attention of the Operative and Paediatric Dentistry unit of the Department of surgical sciences for head and neck diseases – Polyclinic “Agostino Gemelli”, “University of Sacred Heart” of Rome complaining of several pedunculated lesions of the lips, which had been recently traumatized and sensitive to palpation. Considering the notable features of his previous medical history (medulloblastoma, multiple intestinal hamartomas, multiple thyroid nodules and mucogengival lesions) besides his uncooperative attitude towards medical staff (odontophobia and anxiety disorder) the clinicians decided to treat him under general anesthesia. Intraoral mucosal examination revealed geographic and fissured tongue and multiple, confluent, asymptomatic oral papillomatous papules, ranging from 1 to 3 mm in diameter, localized on the tongue, lips, angles of the mouth, buccal mucosa and attached gingiva. Dental examination revealed poor oral hygiene (generalized chronic periodontal disease and multiple carious lesions) and dental malposition with premature loss of teeth. Basing on the clinical features, particularly the presence of multiple muco-cutaneous nodules, a working diagnosis of Cowden’s syndrome was made. The clinical management of the patient included the surgical excision of the multiple papules affecting the upper and lower lip. The excised lesion were fixed with 10% buffered formalin and sent for microscopical examination. Histological examination of the polyps revealed these to be hyperplastic and adenomatous confirming the working Cowden’s syndrome diagnosis. No recurrence has been seen at the 3 months clinical follow-up. Discussion. Cowden’s syndrome, or multiple hamartoma syndrome, was first described in 1940 by Costello in a 27-years old Mexican female. In 1963, Lloyd and Dennis defined and named this pathology by their patient, Rachel Cowden, a 20-year-old female with adenoid facies, high-arched palate, hypoplasia of the soft palate and uvula, papillomatosis of the lips and oropharynx, scrotal tongue, thyroid lesions, hypertrophy and fibrocystic disease of the breast, scoliosis, and lesions of the bones and liver. Although CS is mainly associated with benign tumors, the prevalence of malignancies, especially breast and thyroid carcinomas, in affected patients is greater than in general population. In view of this, it is essential to request a histological examination of the excised lesions in patients for whom a preliminary diagnosis of CS is made. Conclusion. The dentist thus should be aware of the clinical features and possible developments of the CS because he can be the first health care professional who identifies it in its early stages; in such a case the clinician must alert the patient to do medical checks for preventing the formation of a neoplasia or its metastatic development