Related Experiment Video

Updated: Oct 18, 2025

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
13:26

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography

Published on: August 11, 2016

12.4K

Congenital Pigmentary Anomalies in the Newborn

Kaiane A Habeshian1, A Yasmine Kirkorian1

  • 1Division of Dermatology, Children's National Hospital, Washington, DC.

Neoreviews
|October 2, 2021
PubMed

Insights

Recognizing congenital pigmentary anomalies in newborns is crucial, as some birthmarks require further evaluation due to potential skin issues or systemic effects. This review covers key conditions like pigmentary mosaicism and congenital melanocytic nevi.

Area of Science:

  • Dermatology
  • Pediatrics
  • Genetics

Background:

  • Congenital pigmentary anomalies present at birth or develop in infancy/childhood.
  • While many birthmarks are benign, some indicate underlying cutaneous morbidity or systemic issues.
  • Early recognition of neonatal pigmentary anomalies is vital for timely intervention.

Purpose of the Study:

  • To review common congenital pigmentary anomalies in neonates.
  • To highlight conditions requiring further medical evaluation.
  • To discuss pigmentary anomalies associated with specific genetic syndromes.

Main Methods:

  • Literature review of congenital pigmentary anomalies.
  • Focus on conditions like pigmentary mosaicism, congenital melanocytic nevi, nevus spilus, and dermal melanocytosis.
  • Examination of pigmentary findings in neurofibromatosis type 1, tuberous sclerosis, and incontinentia pigmenti.

Main Results:

  • Detailed descriptions of various congenital pigmentary anomalies are provided.
  • Associated conditions and syndromes are discussed, including café au lait spots and hypomelanotic macules.
  • The review emphasizes the importance of differentiating benign from potentially serious conditions.

Conclusions:

  • Accurate diagnosis of congenital pigmentary anomalies is essential for appropriate management.
  • A subset of these anomalies necessitates further investigation for systemic involvement.
  • Understanding these conditions aids in pediatric dermatology and genetic counseling.

More Related Videos

Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish07:16

Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish

Published on: March 1, 2022

2.4K
How to Obtain Reliable Visual Event-related Potentials in Newborns07:39

How to Obtain Reliable Visual Event-related Potentials in Newborns

Published on: October 24, 2019

6.5K

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...
3.4K
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
6.8K
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...
2.7K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
335
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...
48.1K
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,...
41.6K