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

Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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...
Desmosomes01:05

Desmosomes

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
Reticular Dermis01:15

Reticular Dermis

The papillary and reticular dermis are the two layers of the dermis. They are made of connective tissue with fibers of collagen extending from one to the other, making the border between the two somewhat indistinct. The dermal papillae extending into the epidermis belong to the papillary layer, whereas the dense collagen fiber bundles below belong to the reticular layer.
Reticular Layer
Underlying the papillary layer is the much thicker reticular layer, composed of dense, irregular connective...
Cytoskeletal Linker Proteins - Plakins01:09

Cytoskeletal Linker Proteins - Plakins

Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

You might also read

Related Articles

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

Sort by
Same author

Plain language summary about how patients with HER2 positive breast cancer across Europe feel about their cancer, treatment, and future health and related implications for their treatment journey.

Future oncology (London, England)·2026
Same author

Sphingosine-1-Phosphate-derived 2-Hexadecenal is a central mediator of ocular neovascularization by inhibiting Sphingosine-1-Phosphate receptor 5.

Nature communications·2026
Same author

Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases.

Dermatopathology (Basel, Switzerland)·2026
Same author

Real-world progression-free survival and overall survival in patients with HR<sup>+</sup>/HER2<sup>-</sup> advanced breast cancer treated in first-line with ribociclib, endocrine monotherapy or chemotherapy: Results from the observational RIBANNA study.

International journal of cancer·2026
Same author

Treatment Experience of Early-Stage Hormone Receptor-Positive, Human Epidermal Growth Factor Receptor 2-Negative Breast Cancer in a Real-World Setting: European Patients' Perspectives.

Breast care (Basel, Switzerland)·2026
Same author

Progressive symmetrical erythrokeratoderma associated with biallelic PNPLA1 variants.

The British journal of dermatology·2026

Related Experiment Video

Updated: Jul 5, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

Restrictive dermopathy: a rare laminopathy.

Marc Thill1, Thuy Duong Nguyen, Manfred Wehnert

  • 1Department of Gynecology and Obstetrics, Klinikum Offenbach, Starkenburgring 66, 63069, Offenbach, Germany. marc.thill@uk-sh.de

Archives of Gynecology and Obstetrics
|May 13, 2008
PubMed
Summary
This summary is machine-generated.

Restrictive dermopathy (RD) is a rare, lethal genetic disorder affecting newborns, characterized by distinctive skin and internal abnormalities leading to early death. Accurate diagnosis is crucial for genetic counseling and distinguishing it from other congenital conditions.

More Related Videos

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus
05:39

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus

Published on: May 16, 2025

Skin Biopsy for Diagnosing Discoid Lupus Erythematosus
05:44

Skin Biopsy for Diagnosing Discoid Lupus Erythematosus

Published on: June 10, 2025

Related Experiment Videos

Last Updated: Jul 5, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus
05:39

Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus

Published on: May 16, 2025

Skin Biopsy for Diagnosing Discoid Lupus Erythematosus
05:44

Skin Biopsy for Diagnosing Discoid Lupus Erythematosus

Published on: June 10, 2025

Area of Science:

  • Genetics
  • Dermatology
  • Neonatology

Background:

  • Restrictive dermopathy (RD) is a rare autosomal recessive laminopathy.
  • This genetic disorder is lethal in the neonatal period.
  • Key features include polyhydramnios, fetal akinesia, dysmorphisms, and arthrogryposis.

Observation:

  • A case infant presented with thin, shiny, exfoliating skin, characteristic facial features, and joint contractures.
  • Histopathology revealed hyperkeratosis, hypoplastic hair follicles, and reduced dermal thickness with increased subcutaneous fat.
  • Electron microscopy confirmed the diagnosis.

Findings:

  • The infant exhibited severe respiratory insufficiency due to pulmonic atelectasis.
  • Death occurred shortly after birth (3 hours, 20 minutes).
  • Distinctive skin and internal findings are pathognomonic for RD.

Implications:

  • Early diagnosis of RD is vital for accurate prognosis and genetic counseling.
  • Distinguishing RD from keratinization disorders like ichthyosis is essential.
  • RD results from mutations in LMNA (primary) or ZMPSTE24 (secondary) genes.