Increased Genetic Instability in Exfoliated Oral Cells in Patients With Epidermolysis Bullosa

To analyze the nuclear abnormalities of cytotoxicity-karyorrhexis (KR), karyolysis (KL), and pyknosis (PN)-and genotoxicity-micronucleus (MN) in exfoliated cells from different sites of the oral mucosa in patients with Epidermolysis Bullosa (EB) and a control group.

This cross-sectional observational study collected sociodemographic and clinical data through physical examination and a standardized questionnaire. Cells from the buccal, labial, and lingual mucosa were obtained via exfoliative cytology and evaluated for MN, KR, KL, and PN frequencies. Mann-Whitney and Kruskal-Wallis tests were applied.

A total of 20 EB individuals were selected. The control group (n = 20) was matched for sex and age with EB. Males (40%) and females (60%) demonstrated a similar distribution and individuals aged ≤ 19 years represented the majority (65%). An increase in KR and KL was detected in EB, with a greater prevalence in the buccal (p = 0.0002 and p < 0.0001) and labial mucosa (p = 0.0005 and p = 0.0240). EB patients showed a higher frequency of MN in the buccal mucosa (p = 0.0083).

An increase in nuclear abnormalities at different sites of the oral mucosa demonstrated the genetic instability associated with EB. Exfoliative cytology represents a potential tool for oral biomonitoring in these patients.