Abstract
Background: Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of metabolism due to reduced catalytic activity of the different sulfatase. Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and skin changes as in X-linked ichthyosis. The only organ that was not examined in MSD patients is the dentition.
Objectives: To evaluate the effect of the metabolic error on dental development in a patient with the intermediate severe late-infantile form of MSD (S155P).
Methods: Histological and chemical study were performed on three deciduous and five permanent teeth from MSD patient and pair-matched normal patients.
Results: Tooth germ size and enamel thickness were reduced in both deciduous and permanent MSD teeth, and the scalloping feature of the DEJ was missing in MSD teeth causing enamel to break off from the dentin. The mineral components in the enamel and dentin were different.
Conclusions: The metabolic error insults the teeth in the stage of organogenesis in both the deciduous and permanent dentition. The end result is teeth with very sharp cusp tips, thin hypomineralized enamel, and exposed dentin due to the break off of enamel. These findings are different from all other types of MPS syndromes.
Clinically the phenotype of intermediate severe late-infantile form of MSD appeared during the third year of life. In children of parents that are carriers, we can diagnose the disease as early as birth using X-ray radiograph of the anterior upper region or as early as 6–8 months when the first deciduous tooth erupt and consider very early treatment to ameliorate the symptoms.
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Communicated by: Jutta Gaertner
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Uri Zilberman and Haim Bibi declare that they have no conflict of interest.
All procedures followed were in accordance with the ethical standard of the responsible committee on human experimentation of Barzilai Medical University Center, Ashkelon, Israel, and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from the parents of the child included in this study. All details of the child included in this publication are anonymous.
Uri Zilberman performed the clinical treatment and the extractions of the teeth, the investment and the slicing of the teeth, and the SEM analysis. Uri Zilberman and Haim Bibi prepared the report and the answers to the reviewers’ comments.
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Zilberman, U., Bibi, H. (2015). The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 30. JIMD Reports, vol 30. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_523
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DOI: https://doi.org/10.1007/8904_2015_523
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