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

Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

2.2K
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...
2.2K
Pigmentation01:19

Pigmentation

2.7K
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...
2.7K
iPS Cell Differentiation01:22

iPS Cell Differentiation

2.8K
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.
2.8K

You might also read

Related Articles

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

Sort by
Same author

Nail Clubbing-Associated With a Large Segmental Infantile Hemangioma of the Arm in a Patient With PHACES Syndrome.

Pediatric dermatology·2026
Same author

O05 Incontinentia pigmenti: clinical heterogeneity and the role of early dermatological recognition.

The British journal of dermatology·2025
Same author

Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes.

The British journal of dermatology·2025
Same author

Complete spontaneous resolution of NRAS-mosaic multiple congenital melanocytic naevi: proof of principle for therapeutic mole reversal.

The British journal of dermatology·2025
Same author

Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism-Not to Be Confused With NF1.

Pediatric dermatology·2025
Same author

Mosaic disorders affecting pigmentation - part 1: how to make a clinical diagnosis.

The British journal of dermatology·2025

Related Experiment Video

Updated: Sep 16, 2025

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

2.1K

Segmental macular hyperpigmentation: new genes, new clinical implications.

Veronica A Kinsler1,2,3, Nicole Knöpfel1,2,3, Satyamaanasa Polubothu1,2

  • 1NHS England Rare Disease Collaborative Network for Mosaic Disorders, Paediatric Dermatology, Great Ormond Street Hospital for Children, London, UK.

The British Journal of Dermatology
|July 11, 2025
PubMed
Summary

Segmental macular hyperpigmentation (SMH) has multiple genetic causes beyond GNAS mosaicism, including NRAS, BRAF, and PTPN11 variants. Identifying these genetic underpinnings is crucial for personalized patient management and understanding potential health implications.

More Related Videos

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model
12:37

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

Published on: September 7, 2013

18.4K
Measuring Retinal Vessel Diameter from Mouse Fluorescent Angiography Images
04:04

Measuring Retinal Vessel Diameter from Mouse Fluorescent Angiography Images

Published on: May 19, 2023

787

Related Experiment Videos

Last Updated: Sep 16, 2025

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

2.1K
Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model
12:37

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

Published on: September 7, 2013

18.4K
Measuring Retinal Vessel Diameter from Mouse Fluorescent Angiography Images
04:04

Measuring Retinal Vessel Diameter from Mouse Fluorescent Angiography Images

Published on: May 19, 2023

787

Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Segmental macular hyperpigmentation (SMH) is a birthmark presenting as macular hyperpigmentation in a specific pattern.
  • Previously, GNAS gene mosaicism, associated with McCune-Albright syndrome, was the sole identified cause of SMH.
  • The frequency and other genetic causes of SMH presenting to dermatology were previously unknown.

Purpose of the Study:

  • To investigate the genetic etiology of SMH.
  • To understand the natural history and clinical course of SMH.

Main Methods:

  • Prospective cohort study of 50 children with SMH over 15 years.
  • High-depth next-generation sequencing of affected skin lesions in 42 patients.
  • Bioinformatic analysis optimized for detecting mosaic variants.

Main Results:

  • Mosaic GNAS variants were found in 3 patients; one developed endocrine complications.
  • New genetic causes were identified in 5 patients: mosaic NRAS, BRAF, PTPN11 variants, and a 5p gain chromosomal abnormality.
  • These variants were undetectable in blood, with extremely low variant allele frequencies in skin biopsies.

Conclusions:

  • The genetic diversity of SMH necessitates individualized patient management strategies.
  • GNAS variants require systemic monitoring; NRAS/BRAF/PTPN11 variants warrant melanoma awareness and genetic counseling.
  • Genotyping SMH patients is vital, even if clinically well, due to diverse genetic causes and implications.