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. 2016 Aug 17;16(1):70.
doi: 10.1186/s12903-016-0266-0.

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

Zhu-Yu Wang  1 , Kai Zhang  1 , Guang-Sen Zheng  2 , Wei Qiao  1 , Yu-Xiong Su  3
Affiliations

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

Zhu-Yu Wang et al. BMC Oral Health. .

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.

Keywords: Alkaline phosphatase; Cone-beam computed tomography; Dysplasia; Hyperthyroidism; Radicular cyst; Short root anomaly.

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Figures

Fig. 1
Fig. 1
Clinical and imaging manifestation of Case 1. a Frontal intraoral view shows the teeth crowns appear normal except for several spots due to mild enamel hypoplasia. b-d Periapical radiographs show the short root anomaly of the maxillary incisors. e Panoramic film. f-g Teeth lengths were measured by CBCT
Fig. 2
Fig. 2
Clinical and imaging manifestation of Case 2. a-c Intraoral view shows the dysplasia. D. Panoramic film shows the short root anomaly. e-g Histological analysis of the radicular cysts. e cyst wall of the radicular cyst, with Rushton body (black arrow in f) and inflammatory cell infiltration (white arrow in g)
See this image and copyright information in PMC

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