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

Oppositional Defiant Disorder01:30

Oppositional Defiant Disorder

313
A persistent pattern of angry or irritable mood, defiant behavior, or vindictiveness characterizes Oppositional Defiant Disorder (ODD). Symptoms must occur over at least six months, involve interactions with individuals beyond siblings, and meet specific diagnostic criteria to be clinically significant. The disorder affects emotional regulation, social interactions, and behavior, often manifesting early in life and influencing long-term development and functioning.
Diagnostic Criteria and...
313
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

1.6K
Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
1.6K
Oogenesis02:07

Oogenesis

67.6K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
67.6K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

148
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
148
Methods of Documentation II: POMR01:26

Methods of Documentation II: POMR

1.2K
The Problem-Oriented Medical Record (POMR) revolutionized medical record-keeping by introducing a systematic approach focusing on the patient's problems rather than merely listing symptoms. Dr. Lawrence Weed's introduction of this method in the 1960s marked a significant advancement in medical documentation. The POMR framework consists of four key components: the database, problem list, plan of care, and progress notes.
1.2K
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

73
IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
73

You might also read

Related Articles

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

Sort by
Same author

Successful treatment of cutaneous collagenous vasculopathy with cyclophosphamide in a patient with granulomatosis with polyangiitis.

Clinical and experimental dermatology·2025
Same author

Cutaneous Immune-Related Adverse Events and Efficacy of Immune Checkpoint Inhibitors for Patients With Advanced Solid Organ Malignancies.

International journal of dermatology·2025
Same author

A case of multiple painless nodules with discharge on the left leg.

Clinical and experimental dermatology·2025
Same author

General dermatology and dermatology in primary healthcare.

Clinical and experimental dermatology·2025
Same author

General dermatology and dermatology in primary health care.

Clinical and experimental dermatology·2025
Same author

Overtreatment of dysplastic naevi: results of a multiregional UK questionnaire study.

The British journal of dermatology·2024
Same journal

Adverse Childhood Experiences and Pediatric Dermatology: Implications for Care, Equity, and Research.

Pediatric dermatology·2026
Same journal

State-of-the-Art Review: Vaccination in Pediatric Dermatology Patients Receiving Immunosuppressive or Immunomodulatory Therapy: A Review.

Pediatric dermatology·2026
Same journal

Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa.

Pediatric dermatology·2026
Same journal

Infantile Transient Smooth Muscle Contraction of the Skin in Two Sisters.

Pediatric dermatology·2026
Same journal

Are 2021 CMS Changes Enough to Address the Pediatric Dermatology Crisis?

Pediatric dermatology·2026
Same journal

Annular Eruption in 12-Year-Old Boy.

Pediatric dermatology·2026
See all related articles

Related Experiment Video

Updated: Nov 19, 2025

Human Serum Anti-aquaporin-4 Immunoglobulin G Detection by Cell-based Assay
05:45

Human Serum Anti-aquaporin-4 Immunoglobulin G Detection by Cell-based Assay

Published on: April 5, 2019

23.8K

Diagnosing Omenn syndrome.

Louise Cutts1, Arti Bakshi2, Maeve Walsh1

  • 1St Helens and Knowsley Teaching Hospitals NHS Trust, St Helens, UK.

Pediatric Dermatology
|January 29, 2021
PubMed
Summary
This summary is machine-generated.

Omenn syndrome, a rare immunodeficiency, presents with neonatal erythroderma and risks opportunistic infections. Early diagnosis, aided by skin biopsy, is crucial for managing this severe condition.

Keywords:
erythrodermagenetic diseases/mechanismsimmunodeficiencyneonatal

More Related Videos

Culturing and Manipulation of O9-1 Neural Crest Cells
08:32

Culturing and Manipulation of O9-1 Neural Crest Cells

Published on: October 9, 2018

10.7K
Author Spotlight: A Focus on Standardized Salivary Gland Ultrasound Protocol in Connective Tissue Disease Research
07:25

Author Spotlight: A Focus on Standardized Salivary Gland Ultrasound Protocol in Connective Tissue Disease Research

Published on: October 13, 2023

4.1K

Related Experiment Videos

Last Updated: Nov 19, 2025

Human Serum Anti-aquaporin-4 Immunoglobulin G Detection by Cell-based Assay
05:45

Human Serum Anti-aquaporin-4 Immunoglobulin G Detection by Cell-based Assay

Published on: April 5, 2019

23.8K
Culturing and Manipulation of O9-1 Neural Crest Cells
08:32

Culturing and Manipulation of O9-1 Neural Crest Cells

Published on: October 9, 2018

10.7K
Author Spotlight: A Focus on Standardized Salivary Gland Ultrasound Protocol in Connective Tissue Disease Research
07:25

Author Spotlight: A Focus on Standardized Salivary Gland Ultrasound Protocol in Connective Tissue Disease Research

Published on: October 13, 2023

4.1K

Area of Science:

  • Immunology
  • Genetics
  • Dermatology

Background:

  • Omenn syndrome is a severe combined immunodeficiency.
  • It is primarily linked to mutations in the Recombination Activating Genes (RAG1/RAG2).
  • Clinical features include erythroderma and susceptibility to infections.

Purpose of the Study:

  • To highlight key clinical features of Omenn syndrome.
  • To emphasize the diagnostic importance of skin biopsy in Omenn syndrome.
  • To discuss the management challenges in Omenn syndrome.

Main Methods:

  • Review of clinical manifestations of Omenn syndrome.
  • Analysis of diagnostic workup, focusing on skin biopsy.
  • Discussion of RAG1/RAG2 gene mutations.

Main Results:

  • Neonatal erythroderma is a significant clinical sign.
  • Skin biopsy is vital for timely Omenn syndrome diagnosis.
  • Opportunistic infections pose a high mortality risk.

Conclusions:

  • Omenn syndrome requires prompt diagnosis for effective management.
  • Skin biopsy plays a critical role in identifying Omenn syndrome.
  • Understanding clinical features aids in early detection and intervention.