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

Epidermolytic hyperkeratosis

S J Bale1, J G Compton, J J DiGiovanna

  • 1Genetic Studies Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892.

Seminars in Dermatology
|September 1, 1993
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

Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging.

Journal of endocrinological investigation·2020
Same author

A novel method for the transport and long-term storage of cultures and samples in an anaerobic atmosphere.

Letters in applied microbiology·2018
Same author

Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health.

The British journal of dermatology·2017
Same author

Activated STING in a vascular and pulmonary syndrome.

The New England journal of medicine·2014
Same author

Burning issues in the diagnosis of xeroderma pigmentosum.

The British journal of dermatology·2013
Same author

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.

Molecular syndromology·2011

Epidermolytic hyperkeratosis (EHK) is a genetic skin disorder causing blistering and thickening. Genetic defects in keratin 1 or 10 are identified, enabling prenatal diagnosis and potential new therapies.

Area of Science:

  • Dermatology
  • Genetics
  • Molecular Biology

Background:

  • Epidermolytic hyperkeratosis (EHK) is a congenital autosomal dominant ichthyosis.
  • Characterized by blistering and hyperkeratosis, EHK exhibits significant clinical heterogeneity.
  • Histopathology reveals a thickened stratum corneum and vacuolar degeneration of the upper epidermis.

Purpose of the Study:

  • To summarize the clinical and genetic aspects of Epidermolytic Hyperkeratosis.
  • To highlight the role of keratin defects in EHK.
  • To discuss the implications for diagnosis and therapy.

Main Methods:

  • Review of clinical presentations of EHK.
  • Analysis of histological findings in EHK skin.
  • Summary of genetic studies identifying keratin 1 and keratin 10 mutations.

Related Experiment Videos

Main Results:

  • EHK shows variable clinical features including scale quality and body surface involvement.
  • Histological hallmarks include epidermal thickening and vacuolar degeneration.
  • Mutations in keratin 1 or keratin 10 genes are causative in many EHK cases.

Conclusions:

  • Genetic identification of keratin defects provides a basis for prenatal diagnosis in EHK.
  • Understanding keratin function may pave the way for novel therapeutic strategies for EHK.