An alert for the diagnosis of Cowden syndrome from oral lesions

Abstract

Dear madam,We would like to make an alert for the importance of dental surgeons to recognise oral manifestations suggestive of systemic and multi organs and systems diseases. A 62-year-old man presented at the Department of Oral Diagnosis of the Dental Specialties Center of the City of Fernand opolis, Brazil, for the diagnosis and management of multiple lesions in gingiva prior to prosthetic dental rehabilitation. In anamnesis he reported to be non-smoker and non-drinker. His medical history revealed arterial hypertension under medical control. Extraoral examination of the face revealed verrucous papillomatous lesions around the nose compatible with facial trichilemmoma (Fig. 1A). On intraoral examination we observed multiple coalescent papules and nodules arising in upper and lower lip mucosa, upper alveolar ridge, and hard and soft palate (Fig. 1B). Multiple nodules and papules arising in oral mucosa might be suggestive of syndromic conditions, therefore exploratory endoscopy and colonoscopy were performed and

The role of dental phenotypes in the diagnosis of rare diseases: Multiprofessional experience

“…Recently, Tomo et al (2021) made an alert to the diagnosis of Cowden syndrome from oral lesions. The letter reflects the growing importance of the dentist being prepared for the diagnosis of syndromes from orodental phenotypes.…”

“…The letter reflects the growing importance of the dentist being prepared for the diagnosis of syndromes from orodental phenotypes. 1 Martelli and Martelli-Júnior (2020) 2 have highlighted the importance of the dentist in the composition of the multidisciplinary team focused on the diagnosis of rare diseases. In support of this observation, the HPO system (Human Phenotype Ontology) brings over 1000 genetic syndromes with dental alterations in their clinical spectrum.…”