Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Nucleotide Excision Repair

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...

Pigmentation

Pigmentation

The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...

Changes in Skin Color: Clinical Perspectives

Changes in Skin Color: Clinical Perspectives

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...

iPS Cell Differentiation

iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Role of Skin in Vitamin D Synthesis

Role of Skin in Vitamin D Synthesis

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...

You might also read

Related Articles

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

Sort by

Same author

A Narrative Review of Dietary Interventions and Supplementation for the Prevention and Treatment of Atopic Dermatitis.

Current pediatric reviews·2026

Same author

Correction: The future of severe acute respiratory syndrome-coronavirus and coronavirus disease.

World journal of pediatrics : WJP·2026

Same author

NEMO-NDAS: Case Report and Review of the Literature.

Pediatric dermatology·2026

Same author

The future of severe acute respiratory syndrome-cornavirus and coronavirus disease.

World journal of pediatrics : WJP·2026

Same author

Status Epilepsy Syndromes Made Easy: Pediatric Perspectives.

Children (Basel, Switzerland)·2025

Same author

Milking Knowledge: How a Case of the Week ("COW") Cultivates Expertise in Pediatric Dermatology Knowledge.

Journal of cutaneous medicine and surgery·2025

Search research articles

Related Experiment Video

Updated: Sep 24, 2025

Minimal Erythema Dose MED Testing

Minimal Erythema Dose MED Testing

Published on: May 28, 2013

Xeroderma pigmentosum: an updated review.

Alexander Kc Leung^1,2, Benjamin Barankin³, Joseph M Lam^4,5

¹Department of Pediatrics, The University of Calgary, Calgary, Alberta, Canada.

Drugs in Context

|May 6, 2022

Summary

Early recognition and diagnosis of xeroderma pigmentosum (XP) are crucial. Rigorous sun protection and management significantly improve quality of life and life expectancy for XP patients.

Keywords:

conjunctival injection conjunctival neovascularization neurodegeneration photophobia poikiloderma skin cancers xeroderma pigmentosum

More Related Videos

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Published on: September 7, 2013

Studying Chronic Exposure of Mice to Ultraviolet B Radiation

Studying Chronic Exposure of Mice to Ultraviolet B Radiation

Published on: August 19, 2025

Related Experiment Videos

Last Updated: Sep 24, 2025

Minimal Erythema Dose MED Testing

Minimal Erythema Dose MED Testing

Published on: May 28, 2013

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model

Published on: September 7, 2013

Studying Chronic Exposure of Mice to Ultraviolet B Radiation

Studying Chronic Exposure of Mice to Ultraviolet B Radiation

Published on: August 19, 2025

Area of Science:

Genetics and DNA Repair
Dermatology
Ophthalmology
Neurology

Background:

Xeroderma pigmentosum (XP) involves impaired DNA repair of UV and oxidative damage, increasing skin cancer risk.
XP can manifest with photosensitivity, ocular, and neurological issues, varying by mutation.
Early identification of XP is vital to mitigate UV radiation's harmful effects.

Purpose of the Study:

To provide physicians with a comprehensive overview of xeroderma pigmentosum (XP).
To detail the clinical features, diagnostic approaches, and management strategies for XP.
To enhance awareness and understanding of this rare genetic disorder.

Main Methods:

A narrative review approach was employed.
PubMed Clinical Queries were searched using the term "xeroderma pigmentosum" in December 2021.
The search included clinical trials, observational studies, and reviews published within the last 10 years.

Main Results:

XP diagnosis relies on suspected clinical findings (photosensitivity, cutaneous, ocular, neurological) and confirmed biallelic gene mutations.
Management focuses on strict sun avoidance, protection, and early treatment of skin lesions.
Various treatments exist for actinic keratosis, skin cancer, poikiloderma, and ocular symptoms, with investigational therapies including gene therapy.

Conclusions:

While no cure exists for xeroderma pigmentosum (XP), early diagnosis and management are key.
Rigorous sun avoidance and protection are cornerstones of XP care.
Improved quality of life and life expectancy are achievable with timely intervention and optimal care.