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Papillon–Lefèvre syndrome: report of six patients and identification of a novel mutation
Author(s) -
Tekin Burak,
Yucelten Deniz,
Beleggia Filippo,
Sarig Ofer,
Sprecher Eli
Publication year - 2016
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.13297
Subject(s) - genodermatosis , palmoplantar keratoderma , medicine , missense mutation , dyskeratosis , mutation , genetics , exon , cathepsin c , hyperkeratosis , dermatology , gene , biology , cathepsin , biochemistry , enzyme
Papillon–Lefèvre syndrome is an autosomal recessive genodermatosis typically manifesting with the constellation of palmoplantar keratoderma and progressive early‐onset periodontitis. The cutaneous phenotype can be strikingly psoriasiform, possibly posing a diagnostic challenge. This rare disorder is caused by loss‐of‐function mutations in the CTSC gene, which encodes cathepsin C. We report six patients with Papillon–Lefèvre syndrome from five consanguineous Turkish families, in whom genetic analysis of the CTSC gene revealed four recurrent mutations (c.415G>A; c.1015C>T; c.1019A>G; and c.103–105del CTG ) and a novel missense mutation (c.117G>T) in the homozygous state.