Recalcitrant skin ulcers in a patient of Papillon Lefèvre syndrome- an unusual novel presentation

Abstract

This letter discusses an unusual presentation of Papillon–Lefèvre syndrome (PLS) in a 23-year-old male, featuring recalcitrant pyoderma gangrenosum-like ulcers, a symptom not previously associated with PLS. Genetic testing identified a novel homozygous pathogenic variant in the Cathepsin C (CTSC) gene responsible for PLS, highlighting the importance of considering this diagnosis in patients with treatment-resistant skin ulcers. This case broadens our understanding of PLS and its diverse clinical manifestations.