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

Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

2.0K
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...
2.0K
Pleiotropy01:33

Pleiotropy

40.4K
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,...
40.4K
Skin Cancer01:30

Skin Cancer

4.1K
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...
4.1K
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

3.8K
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
3.8K
Pedigree Analysis01:35

Pedigree Analysis

84.2K
Overview
84.2K

You might also read

Related Articles

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

Sort by
Same author

JAAD Game Changer: "Pemphigus and hematologic malignancies: a population-based study of 11,859 patients".

Journal of the American Academy of Dermatology·2026
Same author

JAAD Game Changers: "Risk of venous thromboembolism in patients with mycosis fungoides and parapsoriasis: a Danish nationwide population-based cohort study".

Journal of the American Academy of Dermatology·2026
Same author

JAAD Game Changers: "Outcomes of down-titration in patients with severe scalp alopecia areata initially treated with baricitinib 4 mg: week 152 data from BRAVE-AA2".

Journal of the American Academy of Dermatology·2026
Same author

JAAD Game Changers: Factors associated with residual tumor at time of Mohs micrographic surgery for basal cell and squamous cell carcinomas.

Journal of the American Academy of Dermatology·2026
Same author

JAAD Game Changers: "5-fluorouracil 5% cream for squamous cell carcinoma in situ: Factors impacting treatment response".

Journal of the American Academy of Dermatology·2026
Same author

JAAD Game Changers: "Real-world treatment outcomes of systemic treatments for moderate-to-severe atopic dermatitis in children aged less than 12 years: 2-year results from PEDIatric STudy in Atopic Dermatitis".

Journal of the American Academy of Dermatology·2026

Related Experiment Video

Updated: Jun 28, 2025

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

15.9K

Blau Syndrome With Delayed Cutaneous Manifestations: A Case Report.

Elnaz Panah1, Erin Garfield2, Zisansha Zahirsha2

  • 1Department of Pathology, Loyola University Medical Center, Maywood, IL; and.

The American Journal of Dermatopathology
|April 22, 2024
PubMed
Summary

Blau syndrome, a rare autoinflammatory disorder, is caused by NOD2 mutations. This case highlights its misdiagnosis as juvenile idiopathic arthritis, emphasizing the need for genetic testing.

More Related Videos

Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

10.5K
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling
09:08

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

5.5K

Related Experiment Videos

Last Updated: Jun 28, 2025

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

15.9K
Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

10.5K
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling
09:08

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

5.5K

Area of Science:

  • Genetics
  • Immunology
  • Dermatology

Background:

  • Blau syndrome is a rare autoinflammatory disorder with autosomal dominant inheritance.
  • It presents with granulomatous dermatitis, polyarthritis, and uveitis, often misdiagnosed as juvenile idiopathic arthritis.
  • Gain-of-function mutations in nucleotide-binding oligomerization domain 2 (NOD2) are implicated in Blau syndrome pathogenesis.

Observation:

  • A 37-year-old male with a history of juvenile idiopathic arthritis and uveitis developed asymptomatic pink papules.
  • Histopathological examination revealed noncaseating dermal granulomas with Langerhans-type giant cells.

Findings:

  • Genetic testing confirmed a NOD2 mutation in the patient.
  • The clinical presentation, histology, and genetic findings led to a diagnosis of Blau syndrome.

Implications:

  • This case underscores the importance of considering Blau syndrome in patients with chronic inflammatory conditions, even with atypical presentations.
  • Accurate diagnosis through genetic testing is crucial for appropriate management and understanding of autoinflammatory diseases.
  • Recognizing Blau syndrome can prevent misdiagnosis and delayed treatment for patients with NOD2-associated autoinflammation.