Revisiting X-linked congenital ichthyosis.
STS gene
XLI
X‐linked recessive ichthyosis
dermatopathology
diagnosis
gene pathogenic variants
gene therapy
genetic skin disorders
treatment
Journal
International journal of dermatology
ISSN: 1365-4632
Titre abrégé: Int J Dermatol
Pays: England
ID NLM: 0243704
Informations de publication
Date de publication:
31 Jul 2024
31 Jul 2024
Historique:
revised:
01
07
2024
received:
09
12
2023
accepted:
06
07
2024
medline:
1
8
2024
pubmed:
1
8
2024
entrez:
1
8
2024
Statut:
aheadofprint
Résumé
X-linked recessive ichthyosis (XLI) is a hereditary skin disease characterized by generalized dryness and scaling of the skin, with frequent extracutaneous manifestations. It is the second most common type of ichthyosis, with a prevalence of 1/6,000 to 1/2,000 in males and without any racial or geographical differences. The causative gene for XLI is the steroid sulfatase gene (STS), located on Xp22.3. STS deficiency causes an abnormal cholesterol sulfate (CS) accumulation in the stratum corneum (SC). Excess CS induces epidermal permeability barrier dysfunction and scaling abnormalities. This review summarizes XLI's genetic, clinical, and pathological features, pathogenesis, diagnosis and differential diagnoses, and therapeutic perspectives. Further understanding the role of the STS gene pathogenic variants in XLI may contribute to a more accurate and efficient clinical diagnosis of XLI and provide novel strategies for its treatment and prenatal diagnosis.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : National Natural Science Foundation of China
ID : 81903199
Organisme : National Natural Science Foundation of China
ID : 81802871
Organisme : Natural Science Foundation of Hunan Province
ID : 2021JJ40373
Organisme : Natural Science Foundation of Hunan Province
ID : 2023JJ30901
Informations de copyright
© 2024 the International Society of Dermatology.
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