Oral manifestations of mucopolysaccharidosis

Abstract

Mucopolysaccharidosis (MPS) represent a heterogeneous group of rare, inherited metabolic disorders characterized by progressive multisystem involvement and substantial morbidity. Among the affected organ systems, the oral and craniofacial region is frequently involved and may provide early and valuable diagnostic clues, particularly in pediatric patients. Dental professionals therefore play a crucial role in the early recognition, diagnosis, and multidisciplinary management of individuals with MPS. Understanding the underlying mechanisms responsible for oral findings is essential for improving patient outcomes and tailoring dental care strategies. MPS constitutes a group of genetically inherited lysosomal storage disorders marked by deficiencies in specific enzymes critical for the catabolism of glycosaminoglycans (GAGs). The enzymatic insufficiency results in the progressive accumulation of GAGs within cellular and extracellular compartments across multiple tissues, manifesting in a diverse array of clinical phenotypes. Notably, individuals with MPS often present with pronounced oral and dental abnormalities, which can serve as significant indicators for early diagnosis and clinical management. This review investigates the pathophysiological mechanisms driving oral abnormalities in MPS, examining their diagnostic significance and potential for therapeutic intervention. Common findings include gingival hypertrophy, delayed tooth eruption, enamel hypoplasia, macroglossia, malocclusion, and craniofacial skeletal abnormalities, all of which may complicate oral hygiene and dental treatment. Additionally, radiographic features and challenges related to anesthesia and behavior management are discussed. By highlighting the diagnostic relevance of oral findings and the importance of early dental involvement within a multidisciplinary care framework, this review aims to raise awareness among dental practitioners and contribute to improved quality of life for patients with MPS.