Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study.

Background: Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced by vitamin D deficiency. Single-nucleotide polymorphisms (SNPs) in VDR and CYP24A1 have been previously associated with AD.

Objective: We sought to characterize the associations between the VDR and CYP24A1 polymorphisms and the vitamin D and lipid biochemical profile in children diagnosed with AD.

A novel mutation in the gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.

Background: Weiss-Kruszka syndrome (WSKA) is a rare disorder caused by mutations in the gene or deletion of 9p31.2 chromosome region, involving . The prevalence of WSKA is unknown as only 24 affected individuals have been described.

Prevalence of FLG loss-of-function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis.

Background/objectives: Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, and is often associated with a personal or family history of atopic disease. The presence of loss-of-function mutations in the filaggrin gene (FLG) is the main predisposing factor for AD FLG mutations show ethnic and geographical variations, even between European populations. We sought to determine the frequency of the 3 most common FLG null mutations in a population of Spanish children consisting of healthy controls and AD patients.