Dental findings of hyperphosphatemic familial tumoral calcinosis

Yılancı, Hümeyra Özge; Akkaya, Nursel; Özbek, Murat; Çelik, H. Hamdi; Tatar, İlkan

doi:10.1007/s11282-016-0237-9

Cited by 4 publications

(1 citation statement)

References 19 publications

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“…For the first time, we show in‐depth μCT, histological, and SEM analyses of HFTC teeth, showing dramatic replacement of normal pulp with dense, calcified material and altered densities in pulp, dentin, and cementum. Consistent with a recent case report, ( 21 ) pulp obliteration and internal pulp calcification were observed in our cohort. The presence of normal dentinal tubules with remnants of odontoblastic processes indicates that dentin‐producing cells, odontoblasts, functioned normally during early dental development.…”

Section: Discussionsupporting

confidence: 94%

A Cross‐Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis

et al. 2021

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Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder caused by mutations in FGF23, GALNT3, KLOTHO, or FGF23 autoantibodies. Prominent features include high blood phosphate and calcific masses, usually adjacent to large joints. Dental defects have been reported, but not systematically described. Seventeen patients with HFTC followed at the National Institutes of Health underwent detailed clinical, biochemical, molecular, and dental analyses. Studies of teeth included intraoral photos and radiographs, high‐resolution μCT, histology, and scanning electron microscopy (SEM). A scoring system was developed to assess the severity of tooth phenotype. Pulp calcification was found in 13 of 14 evaluable patients. Short roots and midroot bulges with apical thinning were present in 12 of 13 patients. Premolars were most severely affected. μCT analyses of five HFTC teeth revealed that pulp density increased sevenfold, whereas the pulp volume decreased sevenfold in permanent HFTC teeth compared with age‐ and tooth‐matched control teeth. Histology revealed loss of the polarized odontoblast cell layer and an obliterated pulp cavity that was filled with calcified material. The SEM showed altered pulp and cementum structures, without differences in enamel or dentin structures, when compared with control teeth. This study defines the spectrum and confirms the high penetrance of dental features in HFTC. The phenotypes appear to be independent of genetic/molecular etiology, suggesting hyperphosphatemia or FGF23 deficiency may be the pathomechanistic driver, with prominent effects on root and pulp structures, consistent with a role of phosphate and/or FGF23 in tooth development. Given the early appearance and high penetrance, cognizance of HFTC‐related features may allow for earlier diagnosis and treatment. © 2021 The Authors. JBMR Plus published by Wiley Periodicals LLC. on behalf of American Society for Bone and Mineral Research.

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Section: Discussionsupporting

confidence: 94%