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 genodermatoses]

P Vabres1, M Larrégue

  • 1INSERM U393, Hôpital Necker-Enfants Malades, Paris.

Annales De Dermatologie Et De Venereologie
|January 1, 1995
PubMed
Summary
This summary is machine-generated.

X-linked disorders, often seen in genodermatoses, exhibit unique inheritance patterns due to chromosome X inactivation and pseudoautosomal region recombination. Recognizing transmitting females is crucial for accurate genetic counseling and understanding variable expression.

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

Quality of life of children with capillary malformations of the lower limbs: Evolution and associated factors. Data from the French national paediatric cohort, CONAPE.

Annales de dermatologie et de venereologie·2022
Same author

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.

Genetics in medicine : official journal of the American College of Medical Genetics·2021
Same author

Skin conditions among 20th century politicians and world leaders.

Journal of the European Academy of Dermatology and Venereology : JEADV·2021
Same author

Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome.

The British journal of dermatology·2021
Same author

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2021
Same author

Expanding the clinical spectrum of mosaic BRAF skin phenotypes.

Journal of the European Academy of Dermatology and Venereology : JEADV·2021
Same journal

2024 guidelines (S3) for the therapeutic management of patients with genital herpes.

Annales de dermatologie et de venereologie·2026
Same journal

Topical JAK inhibitors in the lichen planus spectrum: a systematic review.

Annales de dermatologie et de venereologie·2026
Same journal

2024 recommendations for the therapeutic management of anogenital warts.

Annales de dermatologie et de venereologie·2026
Same journal

Successful use of thalidomide in treating metastatic Crohn's disease.

Annales de dermatologie et de venereologie·2026
Same journal

Multiple cutaneous juvenile xanthogranuloma: a monocentric study.

Annales de dermatologie et de venereologie·2026
Same journal

Cartilage-hair-hypoplasia associated with granulomatosis induced by rubella vaccine.

Annales de dermatologie et de venereologie·2026
See all related articles

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Context:

  • Chromosome X is a well-characterized genetic entity.
  • X-linked disorders present unique inheritance patterns and clinical manifestations.
  • Features like variable expression and Blaschko's line topography are characteristic of X-linked genodermatoses.

Purpose:

  • To elucidate the genetic underpinnings of X-linked genodermatoses.
  • To explain the influence of chromosome X inactivation and pseudoautosomal region recombination on disease presentation.
  • To highlight the importance of identifying carrier females for genetic counseling.

Summary:

  • Chromosome X genetics influences various genodermatoses through mechanisms like X-inactivation and pseudoautosomal region recombination.

Related Experiment Videos

  • These processes contribute to distinct clinical features, including variable expression and patterns following Blaschko's lines, observed in conditions such as incontinentia pigmenti and hypohidrotic ectodermal dysplasia.
  • Deletions in pseudoautosomal regions can lead to contiguous gene syndromes, exemplified by ichthyosis with steroid-sulfatase deficiency.

    • Impact:

    • Improved understanding of X-linked genodermatoses pathogenesis.
    • Enhanced diagnostic strategies for identifying affected individuals and carriers.
    • More effective genetic counseling for families affected by X-linked skin disorders.