Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases

Abstract

Background: Hypophosphatasia is a rare inherited disease derived from mutations in tissue non-specific alkaline phosphatase genes, with typical oral symptoms including short root anomaly and dysplasia of dentin or cementum. Case presentation: Two young female patients presented with short root anomaly with a history of premature loss of deciduous and/or permanent teeth. The laboratory and imaging investigations were performed. One case was diagnosed as odontohypophosphatasia concurrent with hyperthyroidism, the other was odontohypophosphatasia concurrent with multiple radicular cysts. Conclusion: This report presents two cases of odontohypophosphatasia, a rare disease which is difficult to be diagnosed, and highlights that the history of premature loss of deciduous and/or permanent teeth, oral manifestation and laboratory tests are crucial for clinical diagnosis.