Papillon-Lefèvre syndrome treated with acitretin.
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.
Lee
Michael R
MR
Department of Dermatology, Royal North Shore Hospital, St Leonards, New South Wales, Australia. mick155@bigpond.net.au
Wong
Li-Chuen F
LC
Fischer
Gayle O
GO
D017255:Acitretin / Q000627:therapeutic use*; D002648:Child; D003241:Consanguinity; D006801:Humans; D007641:Keratolytic Agents / Q000627:therapeutic use*; D008297:Male; D010214:Papillon-Lefevre Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D016896:Treatment Outcome
D007641:Keratolytic Agents; D017255:Acitretin