Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disease that involves severe periodontitis and hyperkeratosis of the hand palms and foot soles. Recently it was found that PLS patients carry loss-of-function mutations in the gene encoding cathepsin C (CTSC). In the present study we have analyzed the CTSC gene in two unrelated families with PLS.

Cervical root resorption in two patients with unilateral complete cleft of the lip and palate.

Case reports on cervical root resorption in patients with complete cleft of the lip and palate are scarce. Moreover, cervical root resorption is sometimes diagnosed several years after a combined orthodontic and surgical therapy in patients with cleft. In this article a review of the literature is presented, and a description and the management of the cervical lesion is provided.