X-linked ichthyosis: New insights into a multi-system disorder.
Journal
Skin health and disease
ISSN: 2690-442X
Titre abrégé: Skin Health Dis
Pays: England
ID NLM: 9918227353706676
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
received:
13
09
2022
accepted:
09
10
2022
entrez:
8
12
2022
pubmed:
9
12
2022
medline:
9
12
2022
Statut:
epublish
Résumé
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. 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. 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. Future work in males with XLI, and in new preclinical andcellular model systems, should further clarify underlying pathophysiologicalmechanisms amenable to therapeutic intervention.
Sections du résumé
Background
UNASSIGNED
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
UNASSIGNED
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
UNASSIGNED
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
UNASSIGNED
Future work in males with XLI, and in new preclinical andcellular model systems, should further clarify underlying pathophysiologicalmechanisms amenable to therapeutic intervention.
Identifiants
pubmed: 36479267
doi: 10.1002/ski2.179
pii: SKI2179
pmc: PMC9720199
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
e179Subventions
Organisme : Medical Research Council
ID : MR/L010305/1
Pays : United Kingdom
Informations de copyright
© 2022 The Authors. Skin Health and Disease published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.
Déclaration de conflit d'intérêts
The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.
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