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Cowden syndrome—a case report emphasizing the role of the dental surgeon in diagnosis
Authors:Liana Preto Webber DDS  Manoela Domingues Martins DDS  PhD  Vinícius Coelho Carrard DDS  MSc  PhD  Marco Antônio Trevizani Martins DDS  MSc  PhD  Maria Cristina Munerato DDS  MSc  PhD
Institution:1. Master degree student, Department of Oral Pathology, School of Dentistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil;2. Assistant professor, Department of Oral Pathology, School of Dentistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil;3. Assistant professor, Department of Stomatology of Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
Abstract:Cowden syndrome or multiple hamartoma syndrome, is a rare genetic condition inherited in an autosomal dominant pattern characterized by cutaneous manifestations, polyps, thyroid gland neoplasias, and macrocephaly. This report presents the case of a 36‐year‐old patient who looked for dental treatment for a gingival nodule. Current and past medical history and oral and facial manifestations led to the diagnosis of Cowden syndrome. This case report emphasizes the role of the dental surgeon in the diagnosis of this systemic disease, based on the analysis of medical history and manifestations in the oral cavity.
Keywords:Cowden disease  genetics  hamartoma tumor syndrome  oral papules  PTEN  trichilemmomas
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