Case report reveals a homozygous ABHD5 variant in a consanguineous family with congenital ichthyosis, highlighting Jordans' anomaly as a critical diagnostic indicator for Chanarin-Dorfman syndrome.
The authors declare no conflicts of interest. Data sharing is not applicable to this article as no new data were created or analysed in this study. Figure S1: Simplified pedigree of the family showing the proband and relatives with ichthyosis. The double horizontal line indicates parental consanguinity. Filled symbols indicate relatives with ichthyosis who had not undergone genetic testing; the proband (arrow) had genetically confirmed Chanarin-Dorfman syndrome associated with a homozygous ABHD5 variant. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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Yıldırım et al. (2026) studied this question.
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