openalexFrontiers in Immunology2026-07-24
Case Report: Papillon–Lefèvre syndrome beyond keratoderma: two index presentations and sibling screening in two families
Hilal Karabağ Çıtlak, Filiz Koç, Gülizar Demir, Gulben Ozgul Postuk, Nurdan Kaykı Aksoy, Oguzhan Demir, et al.
Papillon–Lefèvre syndrome is a rare inherited disorder classically associated with palmoplantar keratoderma and early severe periodontitis, but its clinical presentation may be broader than expected. We report four molecularly confirmed cases from two unrelated families carrying…