AI Article Synopsis

  • Dental agenesis can be categorized as syndromic or non-syndromic, with this case focusing on Carvajal/Naxos syndrome, which includes symptoms like woolly hair and heart issues.
  • A familial case study revealed that all affected individuals had varying degrees of tooth absence due to a mutation in the desmoplakin gene, specifically a change noted as c.1790 C>T.
  • The findings suggest that dental professionals should be alert for indicators of Carvajal/Naxos syndrome when they encounter oligo/hypodontia, as it may signal associated heart problems.

Article Abstract

Dental agenesis is either syndromic or non-syndromic. Here, we describe a familial case with Carvajal/Naxos syndrome associating woolly hair, palmoplantar keratoderma, and biventricular dilated cardiomyopathy. In addition to these signs, all three affected family members had hypo/oligodontia ranging from absence of the lower left second molar to 15 missing teeth, the typical pattern of oligodontia being absent 2nd premolars and absent 2nd and 3rd molars. Mutation screening in the desmoplakin gene (DSP) revealed a de novo missense mutation (c.1790 C>T, p.Ser597Leu) changing a serine residue conserved in all vertebrates. In addition, this variation was absent from 100 control DNA samples. There were no mutations in the plakoglobin gene. This familial case report and two other previous reports demonstrate that autosomal-dominant mutations in the DSP gene are associated with hypo/oligodontia in the setting of Carvajal/Naxos syndrome. This study suggests that dentists discovering oligo/hypodontia should screen for woolly hair and palmoplantar keratoderma because of the probable cardiac involvement with an inherent high risk of severe cardiomyopathy. In addition, this study reveals the role of desmosomes in the development of teeth and suggests that other genes encoding proteins of the desmosome could be involved in oligo/hypodontia.

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Source
http://dx.doi.org/10.1177/0022034510383984DOI Listing

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Article Synopsis
  • Dental agenesis can be categorized as syndromic or non-syndromic, with this case focusing on Carvajal/Naxos syndrome, which includes symptoms like woolly hair and heart issues.
  • A familial case study revealed that all affected individuals had varying degrees of tooth absence due to a mutation in the desmoplakin gene, specifically a change noted as c.1790 C>T.
  • The findings suggest that dental professionals should be alert for indicators of Carvajal/Naxos syndrome when they encounter oligo/hypodontia, as it may signal associated heart problems.
View Article and Find Full Text PDF

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