A case report of X-linked ichthyosis associated with epilepsy due to an Xp22.31 deletion fragment.

BACKGROUND

X-linked ichthyosis (XLI) is a genetic skin disorder caused by defects in the steroid sulfatase (STS) gene, characterized by dry skin and excessive scaling. The majority of patients (90%) have deletions of the STS gene.

CASE SUMMARY: Herein, we report a 5-year-old boy who presented with significant seizures and ichthyosiform skin lesions, along with short stature and attention deficit hyperactivity disorder (ADHD). His skin exhibited an ichthyosiform appearance, diffusely distributed over the entire body. The seizures were characterized by upward gaze deviation and flaccidity of all four limbs, lasting approximately 2 min. Whole-exome sequencing (WES) identified a pathogenic deletion of approximately 1.47 Mb at the Xp22.31 locus in the proband. The father carried the wild-type allele, while the mother was found to have a heterozygous deletion of approximately 1.14 Mb at Xp22.31. This variant was classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines.

CONCLUSION

We report a rare case of Xp22.31 deletion-associated seizures accompanied by ichthyosis, with concomitant short stature and ADHD. This case further highlights our understanding of the complexity of XLI.