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.