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

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 sul...

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Bibliographic Details
Published in:Skin health and disease 2022-12, Vol.2 (4), p.e179-n/a
Main Authors: Wren, Georgina H., Davies, William
Format: Article
Language:English
Subjects:
Attention deficit hyperactivity disorder
Case reports
Cholesterol
Cognition & reasoning
Cornea
Cryptorchidism
Dermatology
Disability
Enzymes
Females
Genes
Genetics
Genotype & phenotype
Hyperactivity
Learning disabilities
Review
Skin
Steroids
Volumetric analysis
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Summary: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. X‐linked ichthyosis is a rare genetic skin condition. We discuss here how it is also associated with multiple medical conditions which may impact affected individuals' education, quality of life and mortality. Awareness and understanding of these comorbidities will be important for ensuring the best multidisplinary care for individuals with XLI.
ISSN:2690-442X
2690-442X
DOI:10.1002/ski2.179