Papillon-Lefèvre Syndrome and Vitamin D Deficiency: An Intriguing Clinical Observation

We report the case of a 3-year-old girl from a consanguineous marriage, initially diagnosed with vitamin D deficiency–associated periodontitis following early tooth mobility. Despite supplementation, her condition worsened with the onset of palmoplantar hyperkeratosis. Further investigations revealed the diagnosis of Papillon-Lefèvre Syndrome (PLS), a rare genetic disorder causing severe periodontitis and palmoplantar keratosis. The patient was managed with vitamin D supplementation, dental extractions, and a removable partial denture. A multidisciplinary approach led to the confirmation of PLS and appropriate management, highlighting the importance of considering genetic disorders in a severe form of periodontitis. This case underscores the potential role of vitamin D deficiency in exacerbating periodontal disease in genetically predisposed individuals, warranting further research into its impact on PLS progression.