Podcast
Questions and Answers
Mutations in Collagen 7 are involved in anchoring the epidermis to the ______.
Mutations in Collagen 7 are involved in anchoring the epidermis to the ______.
dermis
Regular cleaning of wound sites is important for ______ prevention.
Regular cleaning of wound sites is important for ______ prevention.
infection
Cell and gene therapy includes techniques such as CRISPR-Cas 9 based gene ______.
Cell and gene therapy includes techniques such as CRISPR-Cas 9 based gene ______.
editing
Junctional EB and Dystrophic EB are types of ______ disorders.
Junctional EB and Dystrophic EB are types of ______ disorders.
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Antibiotics, either topical or systemic, are part of the ______ for EB.
Antibiotics, either topical or systemic, are part of the ______ for EB.
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The skin acts as a protective barrier against physical ______.
The skin acts as a protective barrier against physical ______.
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The outermost layer of the skin is known as the ______.
The outermost layer of the skin is known as the ______.
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Cells in the epidermis flatten and harden as they move towards the surface and undergo ______.
Cells in the epidermis flatten and harden as they move towards the surface and undergo ______.
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The ______ is the thick inner layer of the skin that supports its strength and elasticity.
The ______ is the thick inner layer of the skin that supports its strength and elasticity.
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The ______ layer of the dermis contains loosely arranged collagen fibers that form fingerprints.
The ______ layer of the dermis contains loosely arranged collagen fibers that form fingerprints.
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The dermis contains ______ fibers that help the skin return to its original shape after stretching.
The dermis contains ______ fibers that help the skin return to its original shape after stretching.
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The skin helps regulate body ______ through blood vessels.
The skin helps regulate body ______ through blood vessels.
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Cells in the epidermis are ______ and shed from the skin surface.
Cells in the epidermis are ______ and shed from the skin surface.
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The hypodermis, also known as the ______, is composed of fat and connective tissue.
The hypodermis, also known as the ______, is composed of fat and connective tissue.
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Tight junctions seal the space between adjacent ______.
Tight junctions seal the space between adjacent ______.
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Desmosomes are essential for providing mechanical ______ in the skin.
Desmosomes are essential for providing mechanical ______ in the skin.
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Elastin in the skin provides ______ and flexibility.
Elastin in the skin provides ______ and flexibility.
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Epidermolysis Bullosa (EB) is a group of ______ disorders that results in blistering.
Epidermolysis Bullosa (EB) is a group of ______ disorders that results in blistering.
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EB simplex is the most common and ______ form of Epidermolysis Bullosa.
EB simplex is the most common and ______ form of Epidermolysis Bullosa.
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Keratins form heterodimers that connect to ______ and hemidesmosomes to anchor cells.
Keratins form heterodimers that connect to ______ and hemidesmosomes to anchor cells.
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Children with Junctional EB typically develop blisters over a large area of the ______.
Children with Junctional EB typically develop blisters over a large area of the ______.
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Which mutation is primarily involved in the anchoring of the epidermis to the dermis?
Which mutation is primarily involved in the anchoring of the epidermis to the dermis?
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What is a significant risk associated with Epidermolysis Bullosa aside from blister formation?
What is a significant risk associated with Epidermolysis Bullosa aside from blister formation?
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Which type of therapy uses CRISPR-Cas 9 to address mutated genes in Epidermolysis Bullosa?
Which type of therapy uses CRISPR-Cas 9 to address mutated genes in Epidermolysis Bullosa?
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Which component, when mutated, leads to vulnerabilities in the skin's structural integrity?
Which component, when mutated, leads to vulnerabilities in the skin's structural integrity?
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What is a recommended practice for infection prevention in managing Epidermolysis Bullosa?
What is a recommended practice for infection prevention in managing Epidermolysis Bullosa?
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What form of gene therapy is specifically mentioned for treating Junctional Epidermolysis Bullosa?
What form of gene therapy is specifically mentioned for treating Junctional Epidermolysis Bullosa?
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What is the primary function of the epidermis?
What is the primary function of the epidermis?
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Which type of connective tissue is found primarily in the dermis?
Which type of connective tissue is found primarily in the dermis?
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What role do blood vessels in the dermis play?
What role do blood vessels in the dermis play?
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How do the cells of the epidermis change as they move towards the skin surface?
How do the cells of the epidermis change as they move towards the skin surface?
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What provides the skin with its strength and elasticity?
What provides the skin with its strength and elasticity?
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Which layer of the dermis is primarily responsible for cushioning stress and strain?
Which layer of the dermis is primarily responsible for cushioning stress and strain?
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What forms the outermost layer of the skin?
What forms the outermost layer of the skin?
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What is the primary purpose of cellular junctions in the skin?
What is the primary purpose of cellular junctions in the skin?
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Which of the following is NOT a function of the skin?
Which of the following is NOT a function of the skin?
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What is one of the primary functions of the hypodermis/subcutaneous layer of the skin?
What is one of the primary functions of the hypodermis/subcutaneous layer of the skin?
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Which type of cellular junction is primarily responsible for maintaining mechanical strength in the skin?
Which type of cellular junction is primarily responsible for maintaining mechanical strength in the skin?
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Which protein is crucial for the elasticity and flexibility of the skin?
Which protein is crucial for the elasticity and flexibility of the skin?
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Epidermolysis Bullosa (EB) simplex is primarily caused by mutations in which type of genes?
Epidermolysis Bullosa (EB) simplex is primarily caused by mutations in which type of genes?
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Which component of the extracellular matrix (ECM) hydrates the skin by binding to water?
Which component of the extracellular matrix (ECM) hydrates the skin by binding to water?
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Which type of Junctional EB is expected to start showing symptoms from birth or infancy?
Which type of Junctional EB is expected to start showing symptoms from birth or infancy?
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What is the main consequence of mutant proteins in EB simplex?
What is the main consequence of mutant proteins in EB simplex?
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What role do integrins play in the skin?
What role do integrins play in the skin?
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What structural feature of desmosomes contributes to their function in the skin?
What structural feature of desmosomes contributes to their function in the skin?
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What is a common sign of Epidermolysis Bullosa?
What is a common sign of Epidermolysis Bullosa?
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Study Notes
Skin Diseases with Defects in Cytoskeleton, Cellular Junctions and ECM
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Learning Outcomes:
- Describe the structure and function of cytoskeleton molecules, cellular junctions, and ECM in maintaining skin integrity.
- Explain the pathophysiological mechanisms underlying skin diseases.
- Compare the clinical manifestations and disease progression of several skin diseases.
- Evaluate current treatment and potential future therapies.
Skin, Cytoskeleton, Cellular Junction and ECM Review
- Skin Structure and Function
- Cytoskeleton Molecules
- Importance of Cellular Junctions
- Importance of Extracellular Matrix (ECM)
Skin Overview
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Protection: Protects the body from physical trauma and prevents water loss.
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Temperature Regulation: Helps regulate body temperature.
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Sensory Perception: Allows awareness of surroundings through sensory receptors.
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Chemical Synthesis: Synthesizes chemicals such as melanin and vitamin D.
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Parts of the Skin:
- Epidermis: Outermost layer, waterproof barrier, creating skin tone
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Dermis: Inner layer, thick, composed of loose fibrous connective tissue, contains blood vessels, sensory receptors, and glands.
- Papillary Layer: Loosely arranged collagen fibers, creates fingerprint detail
- Reticular Layer: Densely woven collagen and elastic fibers, cushions from stress and strain
- Provides Strength, Elasticity, and Nutrients to Skin
- Supports Body Temperature Regulation
- Provides Sensation
- Hypodermis: Anchoring skin to underlying structures, allowing flexibility and movement, fat and connective tissue, insulation and cushioning, energy storage
Skin: Epidermis
- Structure: Outermost layer, multiple sub-layers (corneum, granulosum, etc.)
- Function: Waterproof barrier, creating skin tone.
- Corneocytes: Cells forming the outermost layer.
- Intercellular Lipids: Maintaining waterproof barrier in stratum corneum
- Tight Junctions: Barrier function and prevents vaporization of water.
Skin: Newly Formed Epidermis
- Stratified Squamous Epithelium: Multiple layers of flattened cells.
- Stem Cells: At the bottom layer of the epidermis continuously dividing and creating new skin cells
- Keratinization: New skin cells become flattened and hardened, pushed to the surface (Keratin)
- Prevention of Water Loss: Top layers are dead cells that are shed, ensuring minimal water loss from skin.
Skin: Dermis
- Structure: Thick, inner layer of skin, made of loose fibrous connective tissue, Contains elastic and collagen fibers.
- Function: Strength, elasticity, and nutrients to the skin; supports body temperature regulation and provides sensation; contains blood vessels, many sensory receptors, and glands.
Skin: Hypodermis
- Structure: Hypodermis/Subcutaneous Layer, fat and connective tissue.
- Function: Insulation and cushioning, energy storage, Anchoring skin to underlying structures, allowing flexibility and movement.
Cellular Junctions Review
- Occluding Junction: Seals the space between cells
- Cell-Cell Anchoring Junctions: Connect cells to each other
- Channel Forming Junctions: Allows the passage for small water soluble molecules
- Cell-Matrix Anchoring Junctions: Connecting cells to extracellular matrix.
- Tight Junction: Seals gaps between epithelial cells.
- Adherens Junction: Connects actin filaments between cells.
- Desmosome: Connects intermediate filaments between cells for mechanical strength.
- Gap Junction: Allows the passage of small water-soluble molecules between cells.
- Hemidesmosome: Anchors cells to the extracellular matrix.
Cellular Junctions Important for Skin
- Tight Junctions: Seal the space between adjacent cells.
- Desmosomes: Provide mechanical strength.
- Adherens Junctions: Maintain cell positioning and support wound healing.
- Gap Junctions: Channels for the passage of small water-soluble molecules.
- Hemidesmosomes: Anchor the basal layer of epidermis to the basement membrane.
ECM in the Skin
- Collagen: Provides tensile strength and resilience.
- Elastin: Provides elasticity and flexibility.
- Proteoglycans: Hyaluronic acids, hydrate the skin by binding to water.
- Fibronectin: Cell adhesion, migration, and migration.
- Integrin: Fibronectin receptor, anchors skin cells.
Epidermolysis Bullosa (EB)
- Overview: Group of genetic disorders.
- Signs and Symptoms: Blistering in response to minor trauma.
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Types:
- EB Simplex: Most common, mildest form, mutations in keratin genes (KRT 5 and KRT 14).
- Junctional EB: Blisters over a large area of the body, usually starts from birth or infancy, mutations in laminin 332.
- Dystrophic EB: Blisters and scar formation, increased risk of skin cancer, mutations in collagen 7.
EB Simplex
- Description: Most common and mildest form of EB.
- Mutations: Keratin genes (KRT 5 and KRT 14).
- Effects: Mutant proteins -> increased fragility, blister formation (accumulation of fluid in the extracellular spaces)
Junctional EB
- Description: Blisters over a large area of the body; usually starts from birth or infancy.
- Mutations: Laminin 332 and Collagen 17.
- Effects: Both are involved in anchoring epiderms to basement membrane
Dystrophic EB
- Description: Blisters and scar formation, increased risk of skin cancer.
- Mutations: Collagen 7.
- Effects: Key role in maintaining structural integrity of the skin, cell signaling, and wound healing
Treatment and Therapy for EB
- Wound Care, Infection Prevention, Cell and Gene Therapy
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Description
Test your knowledge on skin anatomy and epidermal disorders, including Junctional and Dystrophic EB. This quiz covers essential concepts such as the role of collagen, wound care, and the structure of skin layers. Perfect for students studying dermatology or related fields.
