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Papillon–Lefèvre syndrome treated with acitretin
Author(s) -
Lee Michael R,
Wong LiChuen F,
Fischer Gayle O
Publication year - 2005
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.2005.00180.x
Subject(s) - acitretin , medicine , dermatology , palmoplantar keratoderma , exon , keratoderma , hyperkeratosis , gene , genetics , psoriasis , biology
SUMMARY 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.