%0 Journal Article
%T Atopic Dermatitis Related to <i>RNF31</i> Genetic Variant
%A C¨¦sar Daniel Alonso-Bello
%A Sonia del Carmen Ch¨¢vez-Ocana
%A Carol Vivian Moncayo-Coello
%A Mar¨ªa Isabel Rojo-Gutierrez
%J Open Access Library Journal
%V 10
%N 7
%P 1-6
%@ 2333-9721
%D 2023
%I Open Access Library
%R 10.4236/oalib.1110339
%X Atopic dermatitis is a chronic and inflammatory skin disease and the most severe forms could strongly impact the patient¡¯s quality of life. Skin barrier dysfunction is considered the first step in the atopic march. <i>RNF31</i> deficiency significantly changes the skin structure and increases its thickness. The keratinocytes show decreased expression of K10 and loricrin. In this way, <i>RNF31</i> deficiency alters the proper functioning of the skin by altering the homeostasis of keratinocytes. We present the case of a 2-year-old boy diagnosed with severe atopic dermatitis, with impaired quality of life due to a genetic variant related to keratinocyte function that has not been previously reported in humans with atopic dermatitis.
%K Atopic Dermatitis
%K Genetics Variant
%K Skin Disease
%K Keratinocytes
%U http://www.oalib.com/paper/6797983