A narrative review of oral manifestations, genotype–phenotype links, and management in pachyonychia congenita

Objective of study Pachyonychia Congenita (PC) is a rare autosomal dominant genodermatosis caused by mutations in keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17). Oral manifestations are seen in more than half of patients, most often as leukokeratosis, natal teeth, or laryngeal involvement. These features can make diagnosis and management challenging and often have a significant impact on daily life and overall well-being. This narrative review explores the oral features of Pachyonychia Congenita, explaining how they develop, the challenges in diagnosis, the links between genes and symptoms, and current approaches to care, highlighting the important role oral health professionals play in supporting these patients. Methods A comprehensive literature search (PubMed, Scopus, Web of Science, Google Scholar; 1958–2025) identified 20 peer-reviewed studies focusing on PC’s oral manifestations. Data were extracted on clinical phenotypes, genetic correlations, diagnostic approaches, and management, with thematic analysis synthesizing findings. Results Leukokeratosis is the most frequently reported oral feature of Pachyonychia Congenita across the included studies and is most commonly associated with KRT6A mutations. Natal and neonatal teeth, widely associated with KRT17 mutations, were observed in 7 studies. Several studies described recurring genotype–phenotype patterns, including more extensive oral involvement and reports of hoarseness among individuals with KRT6A mutations. Diagnostic delays occurred due to the frequent misdiagnosis of oral manifestations as leukoplakia, lichen planus, candidiasis, or white sponge nevus. Treatment is mainly supportive, focusing on regular dental care, the use of topical corticosteroids, and, in some cases, surgical procedures. Management strategies reported across studies were primarily supportive and symptom-focused. Conclusion The oral findings in PC highlight the relevance of early diagnosis in dental practice. Multidisciplinary care treatment and genetic testing are essential for diagnosis and effective management of symptoms.