Universität zu Köln

Tekin, Burak ORCID: 0000-0002-2330-1215, Yucelten, Deniz ORCID: 0000-0002-4251-0581, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Sarig, Ofer and Sprecher, Eli (2016). Papillon-Lefevre syndrome: report of six patients and identification of a novel mutation. Int. J. Dermatol., 55 (8). S. 898 - 903. HOBOKEN: WILEY-BLACKWELL. ISSN 1365-4632

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Abstract

Papillon-Lefevre 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-Lefevre 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Tekin, Burak UNSPECIFIED orcid.org/0000-0002-2330-1215 UNSPECIFIED Yucelten, Deniz UNSPECIFIED orcid.org/0000-0002-4251-0581 UNSPECIFIED Beleggia, Filippo UNSPECIFIED orcid.org/0000-0003-0234-7094 UNSPECIFIED Sarig, Ofer UNSPECIFIED UNSPECIFIED UNSPECIFIED Sprecher, Eli UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-268350
DOI:	10.1111/ijd.13297
Journal or Publication Title:	Int. J. Dermatol.
Volume:	55
Number:	8
Page Range:	S. 898 - 903
Date:	2016
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	1365-4632
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CATHEPSIN-C GENE; PREPUBERTAL PERIODONTITIS; FOLLOW-UP; ACITRETIN; KERATOSIS; DISEASE Multiple languages Dermatology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/26835