A systematic review on oral, head and neck, and systemic features associated with Niemann Pick disease

INTRODUCTION: Niemann-Pick disease (NPD) is a group of rare, autosomal recessive disorders characterized by the abnormal accumulation of sphingolipids and cholesterol in various cells throughout the body. This heterogeneous group of diseases is classified into different subtypes, primarily A, B, C, and less common D, E, and F, each with distinct underlying enzymatic or genetic etiologies and clinical presentations. The classification is crucial as it dictates the severity, progression, and specific manifestations of the disease. The aim of this review was to synthesize the current understanding of NPD, with a particular focus on its oral and dental implications. By examining these articles, we seek to highlight the importance of recognizing and addressing the oral health needs of individuals with NPD. EVIDENCE ACQUISITION: This review followed PRISMA-ScR guidelines and investigated the link between NPD and oral or craniofacial manifestations. A literature search was conducted in four databases (PubMed, Scopus, Embase, Web of Science) using relevant keywords. Only English-language articles were included, and study selection was based on predefined PICO criteria. EVIDENCE SYNTHESIS: A total of 5 articles were included in the review. The initial search identified 23 records; after removing 3 duplicates and excluding 4 based on abstract screening, 16 full-text articles were assessed for eligibility. Of these, 5 met the inclusion criteria. CONCLUSIONS: In conclusion, this review highlighted the systemic complexity of NPD and its impact on oral health. It also underscored the need for multidisciplinary care and personalized dental management. Further studies are needed to clarify the causes of oral manifestations and to establish evidence-based dental guidelines for NPD patients.