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
”
Studysummary In this study, exome sequencing revealed that two brothers with ichthyosis, born to consanguineous parents, had NIPAL4 autosomal recessive congenital ichthyosis, while the older brother's blindness resulted from separate mutations in the peroxidasin gene, which were also found in an unaffected sister.
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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.
