CARD14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis.

Authors:
Nana Inoue
Nana Inoue
Nihon University Veterinary Research Center
Japan
Teruki Dainichi
Teruki Dainichi
Kyoto University Graduate School of Medicine
Kyoto | Japan
Akihiro Fujisawa
Akihiro Fujisawa
Kyoto University Graduate School of Medicine
Hajime Nakano
Hajime Nakano
Hirosaki University School of Medicine
Japan
Daisuke Sawamura
Daisuke Sawamura
Hokkaido University Graduate School of Medicine
Japan
Kenji Kabashima
Kenji Kabashima
Kyoto University Graduate School of Medicine
Japan

J Dermatol 2016 Feb 1;43(2):187-9. Epub 2015 Jul 1.

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Some familial cases of pityriasis rubra pilaris (PRP) have the CARD14 gene mutations that are also detected in familial psoriasis vulgaris. However, genotype-phenotype correlation in these two entities is poorly understood. Here, we report a case of PRP with a new mutation in CARD14. Genomic analysis of a 40-year-old female patient with sporadic PRP type V identified a heterozygous dominant c.412G>A mutation (p.Glu138Lys) in CARD14. Two types of CARD14 mutations causing Glu138 substitutions have been reported in cases of familial PRP and pustular psoriasis. All three types, including the present case, are predicted to cause similar loss of the negative charges at this site. This suggests that the difference in molecular charge and the resulting change in molecular interaction around the N-terminal end of the coiled-coil region of CARD14 molecule do not determine the phenotypic differences between psoriasis and PRP.

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February 2016
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