Genetic disorders of the oral cavity: A comprehensive review of clinical, pathological, and molecular aspects

Genodermatoses are a diverse group of inherited disorders primarily affecting the skin and its appendages, with frequent involvement of the oral mucosa. This narrative review aims to enhance clinician awareness by presenting a comprehensive overview of key oral genodermatoses, including epidermolysis bullosa, white sponge nevus, Darier’s disease, Peutz–Jeghers syndrome, and Papillon–Lefèvre syndrome. Each condition is discussed, with an emphasis on its clinical presentation, genetic etiology, oral and systemic features, histopathological findings, and diagnostic methodologies. Special attention is given to the diagnostic challenges posed by overlapping mucocutaneous features, highlighting the importance of integrating clinical, histological, and molecular data. The review also explores recent advancements in gene-targeted therapies and emerging management strategies. Findings underscore the complexity of diagnosis and the necessity for a multidisciplinary approach involving oral healthcare professionals, dermatologists, pathologists, and geneticists. Early recognition of oral signs is crucial, as these manifestations may precede cutaneous symptoms, facilitating prompt diagnosis and comprehensive patient care.