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 Concept Videos

Skin Cancer01:30

Skin Cancer

5.9K
Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
5.9K
Sensory Functions of the Skin01:16

Sensory Functions of the Skin

8.1K
The skin is the largest organ of the human body and plays a crucial role in our sensory perception. It contains a vast network of sensory receptors that contribute to the skin's protective function by perceiving physical, biological, and environmental cues and generating relevant responses.
There are two main categories of receptors on the skin: capsulated and non-capsulated. The non-capsulated ones are mainly the pain receptors. The capsulated ones can be further categorized based on the...
8.1K
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

5.4K
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
5.4K
Role of Skin in Vitamin D Synthesis01:23

Role of Skin in Vitamin D Synthesis

7.9K
The skin plays a crucial role in the synthesis of vitamin D, a vital nutrient for various physiological processes in the body. Vitamin D is unique because it can be synthesized in the skin through a series of chemical reactions triggered by exposure to ultraviolet B (UVB) radiation from sunlight.
The solar UV B rays (290-315 nm) are absorbed by the skin, and 7-dehydrocholesterol (provitamin D3) photolyzes it to previtamin D3, which undergoes a rapid transformation to vitamin...
7.9K
Accessory Structures of the Skin: Nails01:05

Accessory Structures of the Skin: Nails

3.3K
Nails are one of the important accessory structures of the skin. They are hard, protective structures that cover the dorsal surface of the distal phalanges of fingers and toes. Nails are composed of specialized keratinized cells and serve various functions, including protection, sensation, and manual dexterity.
The main components of a nail include the following.
Nail Plate: The nail plate is the visible portion of the nail that extends beyond the fingertips or toes. It is a hard, translucent...
3.3K
Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

3.5K
The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
3.5K

You might also read

Related Articles

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

Sort by
Same author

Patient Perspectives on Treatment Outcomes and Priorities in Autoimmune Bullous Diseases: An Exploratory Survey among Dutch Patients.

Dermatology (Basel, Switzerland)·2026
Same author

The tumor microenvironment of cutaneous squamous cell carcinoma in high-risk patient groups: A scoping review.

JID innovations : skin science from molecules to population health·2026
Same author

Rituximab resistant pemphigus vulgaris successfully treated with obinutuzumab.

JAAD case reports·2025
Same author

Bullous pemphigoid outcome measurement: a scoping review of outcome heterogeneity and trends in clinical research of treatments.

The British journal of dermatology·2025
Same author

Core outcome domain sets for clinical trials in epidermolysis bullosa - a COSEB protocol to achieve consensus on "what" to measure.

Trials·2025
Same author

Mucous Membrane Pemphigoid Outcome Measurement in Clinical Research: A Scoping Review.

Clinical drug investigation·2025

Related Experiment Video

Updated: Jan 31, 2026

Fragility Assessment of Bovine Cortical Bone Using Scratch Tests
08:36

Fragility Assessment of Bovine Cortical Bone Using Scratch Tests

Published on: November 30, 2017

10.0K

KLHL24: Beyond Skin Fragility.

Maria C Bolling1, Marcel F Jonkman1

  • 1University of Groningen, University Medical Center Groningen, Department of Dermatology, Center for Blistering Diseases, Groningen, The Netherlands.

The Journal of Investigative Dermatology
|December 24, 2018
PubMed
Summary

Mutations in KLHL24, initially linked to skin fragility, are now associated with heart disease (dilated cardiomyopathy) and possibly neurological conditions. Further research is essential to understand these broader impacts.

More Related Videos

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP
09:46

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP

Published on: January 24, 2025

723
Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
10:59

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

1.1K

Related Experiment Videos

Last Updated: Jan 31, 2026

Fragility Assessment of Bovine Cortical Bone Using Scratch Tests
08:36

Fragility Assessment of Bovine Cortical Bone Using Scratch Tests

Published on: November 30, 2017

10.0K
Capturing Common Fragile Site Breaks by Native γH2A.X ChIP
09:46

Capturing Common Fragile Site Breaks by Native γH2A.X ChIP

Published on: January 24, 2025

723
Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
10:59

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

1.1K

Area of Science:

  • Genetics and Molecular Biology
  • Cardiology
  • Neurology

Background:

  • KLHL24 mutations are a newly identified cause of epidermolysis bullosa simplex, primarily affecting skin integrity.
  • Previous research focused on the dermatological manifestations of KLHL24 mutations.
  • Emerging evidence suggests a broader spectrum of disease associated with KLHL24 dysfunction.

Purpose of the Study:

  • To highlight the expanding clinical spectrum of KLHL24 mutations beyond skin fragility.
  • To emphasize the strong association between KLHL24 mutations and dilated cardiomyopathy.
  • To underscore the potential involvement of KLHL24 in neurological disorders.

Main Methods:

  • Review of recent clinical and genetic studies on KLHL24 mutations.
  • Analysis of reported extracutaneous manifestations.
  • Correlation of genotype with phenotype.

Main Results:

  • KLHL24 mutations are strongly associated with dilated cardiomyopathy, indicating a significant cardiac impact.
  • Extracutaneous manifestations, particularly cardiac and suspected neurological disease, are increasingly recognized.
  • The role of KLHL24 extends beyond its known function in skin.

Conclusions:

  • KLHL24 mutations represent a complex genetic disorder with multi-systemic implications.
  • Dilated cardiomyopathy is a significant extracutaneous manifestation requiring clinical attention.
  • Further investigation into the role of KLHL24 in cardiac and neurological tissues is warranted.