Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

X-linked ichthyosis: an update.

A Hernández-Martín1, R González-Sarmiento, P De Unamuno

  • 1Fundacíon Hospital Vérin, Vérin, Ourense, Spain.

The British Journal of Dermatology
|December 3, 1999
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Pediatric and Adolescent Nail Disorders.

Actas dermo-sifiliograficas·2026
Same author

[Translated article] ICHTHYOSIS: Clinical and Molecular Update. Part 1: Introduction and Non-Syndromic Ichthyoses.

Actas dermo-sifiliograficas·2025
Same author

[Translated article] ICHTHYOSIS: Clinical and Molecular Update. Part 2: Syndromic Ichthyosis. Diagnostic and Therapeutic Approach of Ichthyosis.

Actas dermo-sifiliograficas·2025
Same author

Baricitinib in pediatric chronic immune thrombocytopenia and associated autoimmune conditions: a case report.

Frontiers in pediatrics·2025
Same author

ICHTHYOSIS: Clinical and molecular update. Part 1: Introduction and non-syndromic ichthyoses.

Actas dermo-sifiliograficas·2025
Same author

ICHTHYOSIS: Clinical and molecular update. Part 2: Syndromic ichthyosis. Diagnostic and therapeutic approach of ichthyosis.

Actas dermo-sifiliograficas·2025

X-linked ichthyosis causes dry, scaly skin due to a steroid sulphatase enzyme (STS) deficit. Genetic analysis is the most accurate diagnostic method for patients and carriers.

Area of Science:

  • Dermatology
  • Genetics
  • Biochemistry

Background:

  • X-linked ichthyosis is a keratinization disorder presenting with dark, adherent scales.
  • Extracutaneous features include corneal opacity and cryptorchidism.
  • A deficit in steroid sulphatase enzyme (STS) causes the scaling, but the mechanism is unclear.

Purpose of the Study:

  • To summarize the current understanding of X-linked ichthyosis.
  • To highlight the genetic basis and diagnostic approaches.

Main Methods:

  • Review of existing literature on X-linked ichthyosis.
  • Analysis of genetic mapping and deletion data for the STS gene.
  • Evaluation of diagnostic methods.

Main Results:

Related Experiment Videos

  • The STS gene, located on the X chromosome, is frequently deleted in patients (up to 90%).
  • This chromosomal region escapes X inactivation.
  • Genetic analysis is the most accurate diagnostic method.

Conclusions:

  • X-linked ichthyosis is a well-defined genetic disorder.
  • Accurate diagnosis relies on genetic testing for patients and carriers.