Orofacial Manifestations Assisting the Diagnosis of Cowden Syndrome in a Middle-Aged Patient: Case Report and Literature Overview.
Head Neck Pathol
; 16(1): 304-313, 2022 Mar.
Article
em En
| MEDLINE
| ID: mdl-34106409
Middle-aged and old adults (≥ 50 years) diagnosed with Cowden syndrome (CS) with orofacial manifestations are uncommon. We describe a case of CS in a 53-year-old female showing "narrow bird-like" face, macrocephaly, acral keratoses, oral candidiasis, burning in the mouth, and multiple asymptomatic papillomatous lesions with a cobblestone pattern distributed on the alveolar ridge, tongue, buccal mucosa, and commissure. The histopathological features of lesions of the oral mucosa were those of papillary fibroepithelial hyperplasia. Immunohistochemistry revealed strong positivity for PTEN and p53 in most epithelial cells, while the expression of Bcl-2, S-100, and Ki-67 was weak/negative. According to a review conducted in PubMed, Web of Science, Embase, and Scopus for the analysis of reports of CS individuals ≥ 50 years with orofacial manifestations, 56 cases have been described in literature. Predilection for women was observed, with a female:male ratio of 2.3:1. Thirty-five (62.5%) individuals developed some malignant neoplasms. Oral health providers should be aware of the orofacial aspects of CS, including multiple papillomatosis, which can be an important criterion for diagnosis. Since malignancies may occur in older adults with CS, the need for strict surveillance is necessary. The present case has been under follow-up for 7 years without evidence of other manifestations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Papiloma
/
Síndrome do Hamartoma Múltiplo
Tipo de estudo:
Diagnostic_studies
/
Systematic_reviews
Limite:
Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Head Neck Pathol
Assunto da revista:
NEOPLASIAS
/
PATOLOGIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Estados Unidos