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.
66 citations
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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.
81 citations
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June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
21 citations
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July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
40 citations
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July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
7 citations
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February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
