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Related Concept Videos

Pigmentation01:19

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 Perspectives01:14

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...
Skin Cancer01:30

Skin Cancer

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...
Pleiotropy01:33

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,...
Epistasis01:39

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
Pedigree Analysis01:35

Pedigree Analysis

Overview

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Related Experiment Video

Updated: Jun 8, 2026

Quantifying Abdominal Pigmentation in Drosophila melanogaster
08:41

Quantifying Abdominal Pigmentation in Drosophila melanogaster

Published on: June 1, 2017

Patterned pigmentation in children.

James Treat1

  • 1Department of Pediatrics, Section of Dermatology, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. treat@email.chop.edu

Pediatric Clinics of North America
|October 5, 2010
PubMed
Summary

Pigmentary mosaicism presents a wide spectrum of conditions. Most children with localized pigmentary disorders (SegPD) show no systemic issues and are healthy.

Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Pigmentary mosaicism, also known as patterned dyspigmentation, encompasses a broad range of clinical presentations.
  • These range from localized skin pigment changes to widespread abnormalities affecting multiple organ systems.

Purpose of the Study:

  • To outline the clinical spectrum of pigmentary mosaicism.
  • To guide the evaluation and management of affected children, distinguishing between localized and widespread forms.

Main Methods:

  • Clinical observation and case review.
  • Analysis of patient data correlating pigmentary patterns with systemic findings.

Main Results:

  • Localized pigmentary anomalies, such as segmental pigmentary disorder (SegPD), are typically associated with no systemic manifestations.

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Efficient Derivation of Retinal Pigment Epithelium Cells from Stem Cells

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Last Updated: Jun 8, 2026

Quantifying Abdominal Pigmentation in Drosophila melanogaster
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Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish
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Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish

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Efficient Derivation of Retinal Pigment Epithelium Cells from Stem Cells
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  • Widespread dyspigmentation may correlate with neurologic, musculoskeletal, or cardiac abnormalities, necessitating close evaluation.
  • Most children with SegPD and many with more widespread patterns are otherwise healthy.
  • Conclusions:

    • A cautious but nuanced approach is essential for patients with pigmentary mosaicism.
    • Children with widespread dyspigmentation, associated abnormalities, or developmental delays require thorough evaluation and subspecialty referral.
    • Close clinical follow-up with primary care physicians is crucial for all children to ensure developmental milestones are met.