Noninvasive real‐time imaging of palmar pits in basal cell nevus syndrome with line‐field confocal optical coherence tomography

Abstract

Palmar and plantar pits are, besides childhood onset of multiple basal cell carcinomas (BCCs), odontogenic jaw cysts, intracranial calcification, and affected first-degree relatives, one of the major criteria for diagnosis of basal cell nevus syndrome (BCNS). These defective areas of keratinization are present in up to 90% of affected individuals. Lesions may be subtle and easily missed clinically. Dermoscopy or histopathological examination may be useful to diagnose them.1 Palmar pits in a 49-year-old woman with BCNS (deletion exon 2 and 3 PTCH1 gene) are shown using a new diagnostic imaging device: line-field confocal optical coherence tomography (LC-OCT). The device provides real-time and bedside visualization of the features that are typically observed in histopathology (hypokeratosis with inconstant hypogranulosis and palisading proliferation of basal keratinocytes). LC-OCT provides effective, noninvasive, and quick diagnosis of palmar pits and BCCs,2 two of the major diagnostic criteria of BCNS (Figure 1). Sergio del Río-Sancho: Visualization; writing—original draft; writing—review and editing. Caroline Gallay: Investigation; writing—review and editing. Sarah Ventéjou: Investigation; writing—review and editing. Stephanie Christen-Zaech: Conceptualization; resources; supervision; writing—review and editing. All authors read and approved the final manuscript. This study was funded by the Accentus foundation via the CHUV foundation. The authors declare have no conflict of interest. The study was approved by the Local Ethics Committee (Protocol Number: 2021_00683_2104). All patients in this manuscript have given written informed consent for participation in the study and the use of their deidentified, anonymized, aggregated data and their case details (including photographs) for publication. The data that support the findings of this study are available on request from the corresponding author.