Lee Michael R, Wong Li-Chuen F, Fischer Gayle O
Department of Dermatology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
Australas J Dermatol. 2005 Aug;46(3):199-201. doi: 10.1111/j.1440-0960.2005.00180.x.
A 7-year-old boy born to consanguineous parents had suffered from palmoplantar keratoderma and chronic gingivitis since the age of 3 months. He was diagnosed with Papillon-Lefèvre syndrome. Genetic testing confirmed that he was homozygous with a point mutation in exon 6 of the cathepsin C gene. One year after initiating treatment with acitretin 10 mg oral daily and trimethoprim-sulfamethoxazole, the patient's skin remains almost lesion-free, and he has new teeth that erupted during treatment and are free of periodontal disease.