Universität zu Köln

Sander, Dorothea, Schroeder, Josef, Schoenbuchner, Ines, Schreml, Julia, Karrer, Sigrid, Berneburg, Mark and Schreml, Stephan ORCID: 0000-0002-2820-1942 (2016). Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq. Case Rep. Dermatol., 8 (1). S. 19 - 22. BASEL: KARGER. ISSN 1662-6567

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Abstract

A 50-year-old man presented with congenital scaling and hyperkeratosis on his palms, the soles of his feet and the extensor areas of his joints. The flexural areas were unaffected. His maternal grandmother, questionably his maternal uncle, his mother, all three brothers, one of his two sisters as well as two nephews and three nieces have or had similar skin changes. A punch biopsy was taken from the left palm. Clinical and histological signs led to the diagnosis of erythrodermia congenitalis ichthyosiformis bullosa of Brocq. We confirmed this genetically and found a heterozygous duplication (c.1752dupT) in the keratin 1 gene (KRT-1). To our knowledge, this is the first case of this skin condition reported in the literature with a heterozygous duplication (c.1752dupT) in KRT-1. (C) 2016 The Author(s) Published by S. Karger AG, Basel

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Sander, Dorothea UNSPECIFIED UNSPECIFIED UNSPECIFIED Schroeder, Josef UNSPECIFIED UNSPECIFIED UNSPECIFIED Schoenbuchner, Ines UNSPECIFIED UNSPECIFIED UNSPECIFIED Schreml, Julia UNSPECIFIED UNSPECIFIED UNSPECIFIED Karrer, Sigrid UNSPECIFIED UNSPECIFIED UNSPECIFIED Berneburg, Mark UNSPECIFIED UNSPECIFIED UNSPECIFIED Schreml, Stephan UNSPECIFIED orcid.org/0000-0002-2820-1942 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-289350
DOI:	10.1159/000443695
Journal or Publication Title:	Case Rep. Dermatol.
Volume:	8
Number:	1
Page Range:	S. 19 - 22
Date:	2016
Publisher:	KARGER
Place of Publication:	BASEL
ISSN:	1662-6567
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Dermatology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/28935