Syndromic or Non-Syndromic Congenital Ichthyosis? A Case Report of Two Brothers with Ichthyosis but Microphthalmia and Blindness in Only One Brother

January 2024 in “ SAGE Open Medical Case Reports ”

Rachel Aubry, A. Micheil Innes, Richard M. Haber

ichthyosis congenital ichthyosis NIPAL4 autosomal recessive congenital ichthyosis microphthalmia corneal opacities peroxidasin gene

TLDR The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.

This case report discusses two brothers with ichthyosis, born to consanguineous parents, where the older brother also has microphthalmia and blindness due to corneal opacities. The study aimed to determine if the condition was syndromic or non-syndromic. Through clinical follow-up and exome sequencing, it was found that both brothers have NIPAL4 autosomal recessive congenital ichthyosis. The ocular abnormalities in the older brother were attributed to separate autosomal recessive mutations in the peroxidasin gene, which were also present in a sister who did not have ichthyosis.

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research Management of Congenital Ichthyoses: European Guidelines of Care, Part Two

66 citations , June 2018 in “British Journal of Dermatology”

European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.

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