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

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,...

Genetic Lingo

Genetic Lingo

Pedigree Analysis

Pedigree Analysis

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

You might also read

Related Articles

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

Sort by

Same author

Ultra-low oxygen, liquid sample cell for in situ synchrotron-based small-wide angle scattering (SAXS-WAXS).

The Review of scientific instruments·2023

Same author

Treatment of Infrabony Defects by Open Flap Debridement with or without Diode Laser.

Kathmandu University medical journal (KUMJ)·2023

Same author

Skull-base temporal encephalocele: Hidden cause of temporal lobe epilepsy.

Journal of postgraduate medicine·2023

Same author

Chemotherapy or chemotherapy followed by consolidation chemoradiation in postoperative (simple cholecystectomy) gall bladder cancer with residual disease, unsuitable for revision surgery? Risk stratification and outcomes.

Journal of cancer research and therapeutics·2023

Same author

Hirsutism and Quality of Life of Women in Tertiary Care Center in Eastern Nepal.

Kathmandu University medical journal (KUMJ)·2023

Same author

Dexmedetomidine-induced polyuria in a patient with a vestibular schwannoma.

Anaesthesia reports·2023

Same journal

Burkitt`s Lymphoma Presenting as Ileocolic Intussusception in a 8 year old boy.

Kathmandu University medical journal (KUMJ)·2026

Same journal

Negative Pressure Pulmonary Edema Following Septorhinoplasty.

Kathmandu University medical journal (KUMJ)·2026

Same journal

Corneal Deposits in a Jeweler: A case of ocular argyrosis.

Kathmandu University medical journal (KUMJ)·2026

Same journal

All on Four Implant Supported Denture -A zippy solution for complete edentulism.

Kathmandu University medical journal (KUMJ)·2026

Same journal

Eye Care Professionals' Knowledge, Attitude and Practice (KAP) on Myopia Management Approach: A Global Review.

Kathmandu University medical journal (KUMJ)·2026

Same journal

Breastfeeding Self-efficacy and Postnatal Depressive Symptoms: A Cross-sectional Study among Postnatal Women.

Kathmandu University medical journal (KUMJ)·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Oct 12, 2025

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Published on: August 24, 2018

Dyschromatosis Universalis Hereditaria.

M Bista¹, S Agrawal¹, Y Agrawal²

¹Department of Dermatology and Venerology, B.P. Koirala Institute of Health Sciences, Dharan, Nepal.

Kathmandu University Medical Journal (KUMJ)

|November 23, 2021

Summary

This summary is machine-generated.

Dyschromatosis universalis hereditaria (DUH) is a rare genetic skin disorder causing mixed hypo- and hyper-pigmented macules. This study details a rare sporadic case in an 11-year-old boy, highlighting its clinical and histological features.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Immunofluorescent Staining for Visualization of Heterochromatin Associated Proteins in Drosophila Salivary Glands

Immunofluorescent Staining for Visualization of Heterochromatin Associated Proteins in Drosophila Salivary Glands

Published on: August 21, 2021

Related Experiment Videos

Last Updated: Oct 12, 2025

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Published on: August 24, 2018

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Immunofluorescent Staining for Visualization of Heterochromatin Associated Proteins in Drosophila Salivary Glands

Immunofluorescent Staining for Visualization of Heterochromatin Associated Proteins in Drosophila Salivary Glands

Published on: August 21, 2021

Area of Science:

Dermatology
Genetics
Histopathology

Background:

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by reticulate hypo- and hyper-pigmented macules.
It typically follows autosomal dominant inheritance and manifests in early childhood.

Observation:

An 11-year-old boy presented with a 2-year history of progressive, asymptomatic hypopigmented macules on a hyperpigmented background affecting the trunk, extremities, and face.
Notably, the patient had no family history of the condition, suggesting a sporadic presentation.

Findings:

Histopathological examination revealed increased epidermal melanocytes, basal cell vacuolar alteration, and pigmentary incontinence.
Dermal findings included perivascular infiltration by lymphocytes and melanophages.

Implications:

This case expands the understanding of DUH, particularly its sporadic occurrence.
It underscores the importance of histopathological correlation in diagnosing rare genodermatoses.
Further research into the genetic underpinnings of sporadic DUH may be warranted.