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European Journal of Dermatology

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A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris Volume 24, issue 4, July-August 2014

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  • Figure 1
Authors
1 Department of Dermatology,
Hokkaido School of Medicine,
North 15 West 7,
Kita-ku, Sapporo 060-8638,
Japan
2 Department of Dermatology,
Kansai Medical University,
Hirakata, Japan
3 Dermatology and Genetic Medicine,
University of Dundee,
Dundee, UK
4 Department of Dermatology,
Nagoya School of Medicine,
Nagoya, Japan

Ichthyosis vulgaris (IV; OMIM 146700) is the most common genetic disorder of keratinization, inherited in an autosomal semi-dominant fashion, with incomplete penetrance [1]. IV is clinically characterized by dry skin and scaling, especially on the flexor limbs and the trunk [1]. Palmoplantar hyperlinearity and keratosis pilaris are also mostly associated. Loss-of-function mutations in the gene encoding filaggrin (FLG), a crucial protein for epidermal barrier function, have been identified as a cause [...]