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Related Concept Videos

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...
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

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...
Clinical Applications of Epidermal Stem Cells01:19

Clinical Applications of Epidermal Stem Cells

Epidermal stem cells (EpiSCs) are mainly located at the basal layer of the epidermis. These cells repair minor injuries of the skin and replace dead skin cells. However, EpiSCs’ cannot heal severe wounds such as major burns or those from diabetes or hereditary disorders. In such cases, culturing the epidermal stem cells from the patient is possible and has yielded successful treatment options, such as laboratory-grown skin grafts. These grafts are synthesized using a patient’s own EpiSCs...
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Nucleotide Excision Repair01:08

Nucleotide Excision Repair

Overview
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...

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Related Experiment Video

Updated: Jun 18, 2026

Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development
09:25

Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development

Published on: March 24, 2011

Ectodermal dysplasia-skin fragility syndrome.

John A McGrath1, Jemima E Mellerio

  • 1St John's Institute of Dermatology, Floor 9 Tower Wing, Guy's Campus, Great Maze Pond, London SE1 9RT, UK. john.mcgrath@kcl.ac.uk

Dermatologic Clinics
|December 1, 2009
PubMed
Summary

Mutations in the plakophilin 1 (PKP1) gene cause ectodermal dysplasia-skin fragility (ED-SF) syndrome, a genodermatosis characterized by skin erosions and blistering due to desmosome instability.

Area of Science:

  • Dermatology
  • Genetics
  • Cell Biology

Background:

  • Desmosomes are crucial for epidermal cell adhesion.
  • Mutations in desmosomal proteins cause various skin disorders.
  • Plakophilin 1 (PKP1) is a key desmosomal cadherin.
  • Loss-of-function mutations in PKP1 cause ectodermal dysplasia-skin fragility (ED-SF) syndrome.

Purpose of the Study:

  • To review the clinical, structural, and molecular pathology of PKP1-related genodermatosis.
  • To highlight the role of PKP1 in desmosome stabilization.

Main Methods:

  • Review of published literature on PKP1 mutations and ED-SF syndrome.
  • Analysis of clinical features, skin biopsy findings, and molecular pathology.

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Separation of Mouse Embryonic Facial Ectoderm and Mesenchyme

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Main Results:

  • PKP1 mutations lead to skin erosions, crusting, perioral fissuring, and palmoplantar hyperkeratosis.
  • Variable features include ectodermal abnormalities like hypotrichosis and nail dystrophy.
  • Skin biopsies show acanthosis, acantholysis, and poorly formed desmosomes.
  • PKP1 is not expressed in the heart, thus no cardiac pathology is observed.

Conclusions:

  • PKP1 is essential for desmosome integrity and epidermal cohesion.
  • Loss of PKP1 function results in desmosomal detachment and cell-cell separation.
  • ED-SF syndrome is a suprabasal form of epidermolysis bullosa simplex caused by PKP1 deficiency.