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CARD 14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis
Author(s) -
Inoue Nana,
Dainichi Teruki,
Fujisawa Akihiro,
Nakano Hajime,
Sawamura Daisuke,
Kabashima Kenji
Publication year - 2016
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.13008
Subject(s) - pityriasis rubra pilaris , psoriasis , mutation , phenotype , genetics , genotype phenotype distinction , medicine , biology , dermatology , gene
Some familial cases of pityriasis rubra pilaris ( PRP ) have the CARD 14 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 CARD 14 . 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 CARD 14 . Two types of CARD 14 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 CARD 14 molecule do not determine the phenotypic differences between psoriasis and PRP .