Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report

Ana Rafaela de Souza Timoteo, Isabel Cristina Pinheiro de Almeida, Andrey A. Yurchenko, Sheila Ramos de Miranda Henriques, Paulo de Souza Segundo, Fatemeh Rajabi, Sergey Nikolaev, Tirzah Braz Petta

Résultats de recherche: Contribution à un journalArticleRevue par des pairs

Résumé

Background: Xeroderma pigmentosum group E (XP-E) is one of the least common forms of XP, a rare syndrome where patients are prone to develop skin cancer in exposed sunlight areas. XP-E patients are generally not diagnosed until they are adults due to the mild phenotype. Case presentation: two XP-E siblings, female, 23 years, and male, 25 years, from a Brazilian consanguineous family carrying the novel missense pathogenic variant in DDB2 gene, NM_000107.3:c.1027G > C, associated with skin cancer early-onset and severe phenotype, as nodular melanoma in the cornea and in the ear. Conclusion: The assessment of genomic variant pathogenicity was a challenge since this family belongs to an underrepresented population in genomic databases. Given the scarcity of literature documenting XP-E cases and the challenges encountered in achieving an early diagnosis, this report emphasizes the imperative of sun protection measures in XP-E patients. Additionally, it highlights the detrimental impact of the COVID-19 pandemic on cancer diagnosis, leading to the manifestation of a severe phenotype in affected individuals.

langue originaleAnglais
Numéro d'article186
journalBMC Medical Genomics
Volume16
Numéro de publication1
Les DOIs
étatPublié - 1 déc. 2023
Modification externeOui

Contient cette citation