Abstract
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disease characterized by palmoplantar hyperkeratosis and severe periodontal disease. We reported two siblings with PLS who were diagnosed using a mutation analysis of the cathepsin C gene. The siblings were a 24 year-old woman and a 21 year-old man. They had been referred to the Department of Dentistry and Oral Surgery from the Department of Dermatology, Aomori Prefectural Central Hospital, for a close examination and treatment of their periodontal disease. Both the patients exhibited keratinized erythema on their palms, plantar arches, cubiti, and patellae. The sister had mild plaque-induced gingivitis. However, the brother exhibited profound gingival inflammation and periodontal disease with advanced alveolar bone loss and severe tooth mobility and was subsequently diagnosed as having generalized periodontitis associated with a genetic disorder. Seventeen teeth were extracted, and periodontal surgery under a general anesthesia was performed for ten teeth. Consequently, the pocket depths of his remaining teeth decreased to less than 3 mm at most sites. Although more than 6 years have passed since the initial dental examination, his periodontal tissue has been well maintained and no further periodontal disease has occurred. The absence of severe periodontal destruction in the sister,who carried the same mutation in the cathepsin C gene, suggests that this mutation was not necessarily associated with severe periodontal disease. Moreover, as the brother achieved a favorable improvement after the initial treatment and periodontal surgery,patients with strong disposing genetic factors may be able to slow the progression of periodontal disease by receiving conventional periodontal treatments.
Nihon Shishubyo Gakkai Kaishi (J Jpn Periodontol) 49 : 239-249, 2007.
