Papillon–Lefèvre syndrome: report of six patients and identification of a novel mutation

Burak Tekin*, Deniz Yucelten, Filippo Beleggia, Ofer Sarig, Eli Sprecher

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

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.103–105delCTG) and a novel missense mutation (c.117G>T) in the homozygous state.

Original languageEnglish
Pages (from-to)898-902
Number of pages5
JournalInternational Journal of Dermatology
Volume55
Issue number8
DOIs
StatePublished - 1 Aug 2016

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