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Dental Implications of Pycnodysostosis: A Case Series
From Volume 11, Issue 1, January 2018 | Pages 21-24
Article
Pycnodysostosis is a rare skeletal disorder that was first reported and characterized by Maroteaux and Lamy in 1962,1 but it does appear in the literature prior to this under various descriptions.2 It is an autosomal recessive genetic condition with an estimated incidence of 1.7 per 1 million births3 and is caused by a mutation in the gene for cathepsin K (CTSK), mapped to chromosome 1q21.4 CTSK is a lysosomal enzyme which is well expressed in osteoclasts and is responsible for the breakdown of proteins in the bone matrix.5 Defective tissue-specific expression of this enzyme causes a decrease in bone turnover and therefore osteosclerosis. Increased bone density and fragility paired with reduced vascularity are responsible for many of the clinical manifestations of pycnodysostosis.6
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