CARD 14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Dermatology and Skin Diseases
• Share to Psoriasis: Treatment and Pathogenesis
• Share to T-cell and B-cell Immunology