X-linked ichthyosis: New insights into a multi-system disorder

Wren, Georgina H. and Davies, William ORCID: https://orcid.org/0000-0002-7714-2440 2022. X-linked ichthyosis: New insights into a multi-system disorder. Skin Health and Disease 2 (4) , e179. 10.1002/ski2.179

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Abstract

Background X-linked ichthyosis (XLI) is a rare genetic condition almostexclusively affecting males; it is characterised by abnormal desquamation and retentionhyperkeratosis, and presents with polygonal brown scales. Most cases resultfrom genetic deletions within Xp22.31 spanning the STS (steroid sulfatase)gene, with the remaining cases resulting from STS-specific mutations. For manyyears it has been recognised that individuals with XLI are at increased risk ofcryptorchidism and corneal opacities. Methods We discuss emerging evidence that such individuals are alsomore likely to be affected by a range of neurodevelopmental and psychiatrictraits, by cardiac arrhythmias, and by rare fibrotic and bleeding-relatedconditions. We consider candidate mechanisms that may confer elevatedlikelihood of these individual conditions, and propose a novel commonbiological risk pathway. Results Understanding the prevalence, nature and co-occurrence ofcomorbidities associated with XLI is critical for ensuring early identificationof symptoms and for providing the most effective genetic counselling andmultidisciplinary care for affected individuals. Conclusion Future work in males with XLI, and in new preclinical andcellular model systems, should further clarify underlying pathophysiologicalmechanisms amenable to therapeutic intervention.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine Neuroscience and Mental Health Research Institute (NMHRI) Psychology MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher:	Wiley Open Access
ISSN:	2690-442X
Funders:	Cardiff University School of Psychology
Date of First Compliant Deposit:	17 October 2022
Date of Acceptance:	9 October 2022
Last Modified:	28 Sep 2023 23:02
URI:	https://orca.cardiff.ac.uk/id/eprint/153449

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