502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindreds

Objective: Clear genotype-phenotype associations in ichthyosis have been difficult to establish. We aimed expand the genotypic and phenotypic spectra of delineate associations. Design: recruited an international group individuals with ichthyosis, including participants all ages, races, ethnicities. Genetic analysis saliva or blood, a phenotyping questionnaire, standardized clinical photographs were obtained. Results: Among 1000 unrelated individuals, 266 novel variants 32 genes identified. Pruritus, hypohydrosis, skin pain, eye problems, odor, infections most prevalent self-reported features. Collodion membrane at birth (OR 6.7; P < .001), odor (OR, 2.8; = .02), hearing problems 2.9; 3.0; alopecia 4.6; .001) significantly associated TGM1 mutations compared other genotypes. Skin pain 6.8; .002), 5.7; 3.1; .03) KRT10 mutations. Novel phenotypes such as EKVP caused by ABCA12 Conclusions: expanded establishing between manifestations The findings may improve assessment assist developing customized management plans.