Papillon-Lefèvre syndrome treated with acitretin.

Australas J Dermatol

Department of Dermatology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.

Published: August 2005

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.

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Source
http://dx.doi.org/10.1111/j.1440-0960.2005.00180.xDOI Listing

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