Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series.

ABSTRACT:

Background

White Sponge Nevus (WSN) is a rare benign disorder associated with mutations in genes coding for cytokeratin 4 (KRT4) and 13 (KRT13) characterized by dyskeratotic hyperplasia of mucous membranes. This study was aimed at examining different approaches (cytology, pathology and genetic analysis) to WSN diagnosis.

Methods

A series of four patients with asymptomatic white diffuse oral lesions were evaluated and, before performing an incisional biopsy for pathology, an oral brush Thin Prep was collected for exfoliative liquid-based cytology (LBC). DNA for genetic analysis was also obtained from patients and both their parents, using buccal swabs.

Results

Pathology and cytology showed similar results, leading to the same diagnosis of hyperkeratotic epithelium with

SUBMITTER: Lajolo C 

PROVIDER: S-EPMC9952746 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature