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Dental manifestations of hypophosphatasia: translational and clinical advances.

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February 2025

Division of Biosciences, College of Dentistry, The Ohio State University, Columbus, OH, 43210, United States.

Hypophosphatasia (HPP) is an inherited error in metabolism resulting from loss-of-function variants in the gene, which encodes tissue-nonspecific alkaline phosphatase (TNAP). TNAP plays a crucial role in biomineralization of bones and teeth, in part by reducing levels of inorganic pyrophosphate (PP), an inhibitor of biomineralization. HPP onset in childhood contributes to rickets, including growth plate defects and impaired growth.

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Department of Oral Pathology and Microbiology, Saveetha Dental College and Hospitals, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, Tamil Nadu, India.

Aim: To assess the prevalence of tooth-related, soft tissue, and intraosseous pathologies in the pediatric population (0-17 years) in a South Indian dental teaching institution and to compare the results with previous literature.

Materials And Methods: Clinical data from the pedodontics department and histopathological records from the oral pathology department were analyzed from the year 2010 to 2022 and grouped into two major categories: group I, abnormalities of teeth, and group II, intraosseous and mucosal/soft tissue lesions. The data were entered into a Microsoft Excel spreadsheet, and descriptive analysis was conducted using Statistical Package for the Social Sciences (SPSS) software, version 26.

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Material And Methods: PRISMA-ScR guidelines were followed.

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Molar incisor hypomineralization (MIH) is a developmental defect that affects the enamel tissue of permanent teeth. Clinicians may observe a range of opacities in the affected teeth, varying from white to creamy, yellow, and brown. Of particular interest is an etiology of MIH that has not been rigorously elucidated.

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Objectives: Calcium ions (Ca) play crucial role in tooth development, particularly in maintaining enamel density during amelogenesis. Ameloblasts require specific proteins such as amelogenin, ameloblastin, enamelin, kallikrein, and collagen for enamel growth. Recent research has highlighted the importance of calcium and fluoride ions, as well as the TRPM7, STIM, and SOCE pathways, in regulating various stages of enamel formation.

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