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

TL;DR

A 5-year-old boy with X-linked ichthyosis and seizures is reported, highlighting a rare genetic deletion and its complex effects.

Contribution

This case report adds to the understanding of Xp22.31 deletion's role in X-linked ichthyosis with epilepsy and associated developmental features.

Findings

A 1.47 Mb Xp22.31 deletion was identified in a boy with X-linked ichthyosis and seizures.

The mother carried a 1.14 Mb Xp22.31 deletion, classified as pathogenic.

The case shows XLI can be associated with epilepsy, short stature, and ADHD.

Abstract

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.

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.

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.

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