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