The importance of the dentist in the diagnosis of cowden syndrome – Case report

Cowden Syndrome is an autosomal dominant disorder characterized by the development of several hamartomas in a variety of tissues, including the skin, gastrointestinal tract, adipose tissue, and bone and connective tissues. This syndrome is associated with a high risk of developing malignancies, especially breast, thyroid and endometrium cancers. This report presents a case of a 53-year-old patient who sought assistance at the Dentistry Department of the University Hospital of Brasilia (HUB) to receive basic dental treatment. The current and past medical history and oral and facial manifestations led to the diagnosis of Cowden syndrome. This case report aims to highlight the importance of a dental surgeon in the diagnosis of this syndrome, based on the observation of oral manifestations and medical history.

A Síndrome de Cowden é uma desordem hereditária autossômica dominante, caracterizada pelo desenvolvimento de diversos hamartomas em vários tipos de tecidos, incluindo a epiderme, trato gastrointestinal, tecido adiposo e tecidos ósseo e conjuntivo. Essa síndrome é associada a um risco elevado de desenvolvimento de malignidades, especialmente câncer de mama, tireoide e endométrio. Esse relato apresenta o caso de um paciente de 53 anos de idade que procurou o Departamento de Odontologia do Hospital Universitário de Brasília (HUB) para tratamento dental básico. História médica atual e passada e manifestações orais e faciais levaram ao diagnóstico de síndrome de Cowden. Este relato de caso apresenta a importância do cirurgião-dentista no diagnóstico desta síndrome, com base na observação das manifestações orais e história médica.

Syndrome In Question

The authors describe a case of Cowden´s syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized by facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Sites of extracutaneous involvement include: the thyroid, gastrointestinal tract, breast and endometrial tissue. There is risk of malignancies in these organs and they need to be monitored with imaging tests. The early diagnosis of the syndrome by a dermatologist through mucocutaneous lesions enables the investigation and diagnosis of extracutaneous involvement. .

Autosomal Dominant Inherited Cowden's Disease in a Family

Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.