NUMERO: #20230439

Título: STOMATOLOGICAL FINDINGS IN A CLUSTER OF XERODERMA PIGMENTOSUM: DESCRIPTION AND COMPARISON AFTER A PERIOD OF 12 YEARS

Nome do Apresentador: Luciano Alberto de CASTRO

Categoria do Trabalho: Apresentação oral de séries de casos clínicos (AOS)

Área Temática: Estomatologia

Resumo: Xeroderma Pigmentosum (XP), a rare genetic disorder, is inherited in an autosomal recessive pattern. It is characterized by defects in DNA repair, which cause hypersensitivity to solar radiation and extreme susceptibility to cancer, especially of the skin, but also of internal organs. This study reports the clinical and demographic aspects of 17 patients with XP, all members of the same family. Data were collected on two separate occasions, with a 12-year interval. In 2010, the patients underwent a standardized clinical evaluation (history and physical examination), genotyping and lingual biopsy (one patient). In 2022, a new clinical evaluation was carried out on 13 patients (4 had already died) and a new lingual biopsy was performed on the same previously mentioned patient. Reports of occurrences of head and neck cancer, and intra- and extraoral alterations were recorded, as were the anatomopathological results. Findings were described and 2010 and 2022 data were compared.

Autor 1:  Luciano Alberto de CASTRO

E-mail 1:  [email protected]

Autor 2:   Karine Kristiny Faria GOMES

E-mail 2:  [email protected]

Autor 3 :  Diego Antonio Costa ARANTES

E-mail 3:  [email protected]

Autor 4:  Iara Silva BELO

E-mail 4:  [email protected]

Autor 5:  Rafael SOUTO

E-mail 5:  [email protected]