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

Elastin is Responsible for Tissue Elasticity01:12

Elastin is Responsible for Tissue Elasticity

Elastic fiber contains the protein elastin along with lesser amounts of other proteins and glycoproteins. The main property of elastin is that it will return to its original shape after being stretched or compressed. Elastic fibers are prominent in elastic tissues found in skin and the elastic ligaments of the vertebral column.
Ligaments and tendons are made of dense regular connective tissue, but in ligaments not all fibers are parallel. Dense regular elastic tissue contains elastin fibers and...
Skin Cancer01:30

Skin Cancer

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...
Papillary Dermis01:11

Papillary Dermis

Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen and...
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...
Chronic Obstructive Pulmonary Disease II: Emphysema01:23

Chronic Obstructive Pulmonary Disease II: Emphysema

Emphysema, a major phenotype of chronic obstructive pulmonary disease (COPD), is characterized by irreversible destruction of alveolar walls and permanent enlargement of distal airspaces. Unlike chronic bronchitis, which primarily affects the airways, emphysema predominantly involves the lung parenchyma, where structural damage leads to airflow limitation.PathophysiologyIt most commonly results from prolonged exposure to cigarette smoke and other toxic gases, particularly cigarette smoke.
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,...

You might also read

Related Articles

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

Sort by
Same author

Long-Term Safety and Efficacy of Once-Daily and Proactive Twice-Weekly Roflumilast Cream 0.05% for Mild-to-Moderate Atopic Dermatitis in Children Aged 2-5 Years From a 52-Week, Phase 3 Trial (INTEGUMENT-OLE).

Pediatric dermatology·2026
Same author

Pediatric Dermatology Learning Needs Identified Through Continuing Certification Program Assessments of the American Board of Dermatology.

Pediatric dermatology·2025
Same author

SAIGE I: Staphylococcus aureus, Immunological, Genetic, and Environmental (SAIGE) Factors Contributing to Atopic Dermatitis and the Use of Ceramide-Containing Skincare.

Journal of drugs in dermatology : JDD·2025
Same author

Comparison of Two System Identification Approaches for a Four-Wheel Differential Robot Based on Velocity Command Execution.

Sensors (Basel, Switzerland)·2025
Same author

The Atopic Dermatitis Continuum: An Updated Paradigm for a Common Disorder and a Novel Multipurpose Treatment Option.

Journal of drugs in dermatology : JDD·2025
Same author

Early Evidence of Safety, Clinical Benefit, and Pharmacokinetics of Roflumilast Cream 0.3% Once Daily for Treatment of Mild or Moderate Plaque Psoriasis in Children Aged 2-11 Years.

Pediatric dermatology·2025
Same journal

Large cell acanthoma: A benign lesion masquerading as malignant melanoma.

Dermatology online journal·2026
Same journal

A New World disease: Dual diagnostic challenges in travelers returning from Costa Rica.

Dermatology online journal·2026
Same journal

Aquagenic wrinkling of the palms in a healthy adolescent.

Dermatology online journal·2026
Same journal

Patchy presentation of central centrifugal cicatricial alopecia.

Dermatology online journal·2026
Same journal

Blue nevus-like melanoma: A rare entity.

Dermatology online journal·2026
Same journal

Childhood granulomatous periorificial dermatitis: Ivermectin as a novel therapeutic approach.

Dermatology online journal·2026
See all related articles

Related Experiment Video

Updated: Jun 19, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
06:15

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

Pseudoxanthoma elasticum.

Mercedes E Gonzalez1, Henry J Votava, George Lipkin

  • 1Department of Dermatology, New York University, USA.

Dermatology Online Journal
|November 7, 2009
PubMed
Summary
This summary is machine-generated.

Pseudoxanthoma elasticum is a genetic disorder caused by ABCC6 gene mutations, leading to elastic fiber fragmentation. This case study highlights significant differences in disease severity among siblings, underscoring intra-familiar phenotypic variability.

More Related Videos

Elastic Staining on Paraffin-embedded Slides of pT3N0M0 Gastric Cancer Tissue
06:36

Elastic Staining on Paraffin-embedded Slides of pT3N0M0 Gastric Cancer Tissue

Published on: May 1, 2019

Related Experiment Videos

Last Updated: Jun 19, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
06:15

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

Elastic Staining on Paraffin-embedded Slides of pT3N0M0 Gastric Cancer Tissue
06:36

Elastic Staining on Paraffin-embedded Slides of pT3N0M0 Gastric Cancer Tissue

Published on: May 1, 2019

Area of Science:

  • Genetics
  • Dermatology
  • Ophthalmology
  • Cardiovascular Medicine

Background:

  • Pseudoxanthoma elasticum (PXE) is an incurable, autosomal-recessive genetic disorder resulting from ABCC6 gene mutations.
  • It manifests as progressive mineralization and fragmentation of elastic fibers in the skin, retina, and vasculature.
  • While cutaneous findings lead to diagnosis, morbidity stems from extracutaneous involvement, particularly ocular and cardiovascular complications.

Observation:

  • The study presents two siblings diagnosed with pseudoxanthoma elasticum.
  • These siblings exhibit considerable differences in disease-related morbidity and clinical manifestations.
  • This observation underscores the significant intra-familiar phenotypic heterogeneity observed in PXE.

Findings:

  • PXE exhibits progressive characteristics with notable phenotypic variability.
  • A definitive genotype-phenotype correlation remains elusive in pseudoxanthoma elasticum.
  • The case highlights that even within the same family, disease severity can differ substantially.

Implications:

  • Understanding intra-familiar heterogeneity is crucial for managing PXE.
  • Supportive treatment should focus on early detection and prevention of ocular and cardiovascular sequelae.
  • Further research into factors influencing PXE variability may lead to more personalized therapeutic strategies.