Related Experiment Video
Updated: May 23, 2025
07:16
Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish
Published on: March 1, 2022
2.2K
Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A
Zhuo Ran Cai1, Jean-François Soucy2,3, Frédérique Tihy2,3
1Division of Dermatology, Montreal University Hospital Center, Montreal, QC, Canada.
Journal of Cutaneous Medicine and Surgery
|May 3, 2025
Summary
Patterned cutaneous hypopigmentation (PCH) with systemic findings often has a genetic cause. Comprehensive genomic evaluation of skin and blood is recommended for affected individuals.
Area of Science:
- Genetics
- Dermatology
- Medical Genomics
Background:
- Patterned cutaneous hypopigmentation (PCH) is associated with various extracutaneous manifestations.
- Understanding the genetic basis of syndromic PCH is crucial for diagnosis and management.
Purpose of the Study:
- To determine the clinical and genetic characteristics of patients presenting with PCH and extracutaneous involvement.
- To investigate the underlying genetic causes of syndromic PCH.
Main Methods:
- Clinical reassessment of 8 patients with PCH and neurological involvement.
- Whole exome sequencing of patient blood and lesional skin biopsies.
- Array comparative genomic hybridization on patient skin and blood samples.
Main Results:
- Identified chromosomal abnormalities (trisomy 7, 14, 13q13-ter deletion) and pathogenic mutations (NBEA, USP9X, DDX3X, NIPBL, RHOA) in all studied patients.
- Observed various extracutaneous anomalies including musculoskeletal, acral, ophthalmologic, and dental issues.
- Detected narrow and broad bands along the lines of Blaschko in the majority of patients.
Conclusions:
- Syndromic PCH is consistently linked to chromosomal or monogenic causes.
- Comprehensive genomic evaluation, including lesional skin and peripheral blood, is essential for patients with PCH and systemic findings.
- Improved clinical and genetic characterization will enhance understanding and management of syndromic PCH.
Related Concept Videos
01:33Pleiotropy
39.3K
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,...
39.3K
01:14Changes in Skin Color: Clinical Perspectives
1.6K
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...
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
1.6K
01:35Pedigree Analysis
83.7K
Overview
83.7K
01:19Pigmentation
2.3K
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...
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...
2.3K
01:30Skin Cancer
3.0K
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...
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
3.0K
01:43Incomplete Dominance
20.7K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
20.7K