NUMERO: #20230447

Título: COWDEN SYNDROME DIAGNOSED BY THE PRESENCE OF ORAL FINDINGS

Nome do Apresentador: Javier Ignacio GIMENEZ

Categoria do Trabalho: Painel de caso clínico (PCC)

Área Temática: Estomatologia

Resumo: Cowden syndrome (CS) is a rare autosomal dominant disease, where mutation of the phosphatase and tensin homologous gene (PTEN) leads to the development of multisystemic hamartomas and neoplasms. We present a 38-year-old female patient referred for a tumor with a reactive appearance. She was treated for endometrioid carcinoma, presented with multiple skin lesions, breast nodules, goiter ,and metabolic syndrome.
Physical examination revealed multiple wart-like lesions on the lower gum. Biopsies were taken from lesions with a diagnosis of epithelial hyperplasia, and a genetic study of the exome in blood was performed by massive DNA sequencing (NGS), detecting a point mutation of the PTEN gene, confirming the diagnosis of CS. The detection of benign lesions of the oral cavity may be the first suspicion of CS, highlighting the importance of early detection of this disease to establish early diagnosis of current and future neoplasms.

Autor 1:  Javier Ignacio GIMENEZ

E-mail 1:  [email protected]

Autor 2:   Castrillo Maria de los Ángeles

E-mail 2:  [email protected]

Autor 3 :  Flück Verónica

E-mail 3:  [email protected]

Autor 4:  Reda Maria Ana

E-mail 4:  [email protected]

Autor 5:  Anton Magali

E-mail 5:  [email protected]

Autor 6:  Giacco Claudia

E-mail 6:  [email protected]