European Journal of Dermatology
MENUA new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris Volume 24, issue 4, July-August 2014
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1 Department of Dermatology,
Hokkaido School of Medicine,
North 15 West 7,
Kita-ku, Sapporo 060-8638,
Japan
Hokkaido School of Medicine,
North 15 West 7,
Kita-ku, Sapporo 060-8638,
Japan
- DOI : 10.1684/ejd.2014.2410
- Page(s) : 491-3
- Published in: 2014
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 [...]