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Epidermolysis bullosa

Index Epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of genetic conditions that result in easy blistering of the skin and mucous membranes. [1]

49 relations: Amputation, Basement membrane, Blister, Broccoli, Bullous pemphigoid, Bullying, Channel 4, Collagen, Collagen, type VII, alpha 1, Dermatology, Dermis, Desmoplakin, Dominance (genetics), Epidermis, Epidermolysis bullosa dystrophica, Epidermolysis bullosa simplex, Esophageal stricture, Genetic disorder, Genetic testing, HBO, History of wound care, Human skin, Infection, Intermediate filament, Jojoba oil, Jonathan Pitre, Jonny Kennedy, Junctional epidermolysis bullosa (medicine), Keratin, Keratin 14, Keratin 5, Kindler syndrome, Lamina lucida, Laminin, List of genetic disorders, Mucous membrane, Mutation, My Flesh and Blood, Online Mendelian Inheritance in Man, Pemphigus vulgaris, Protein, Protein dimer, Skin, Skin biopsy, Squamous cell skin cancer, Star Tribune, Sulforaphane, The Sports Network, United Kingdom.

Amputation

Amputation is the removal of a limb by trauma, medical illness, or surgery.

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Basement membrane

The basement membrane is a thin, fibrous, extracellular matrix of tissue that separates the lining of an internal or external body surface from underlying connective tissue in metazoans.

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Blister

A blister is a small pocket of body fluid (lymph, serum, plasma, blood, or pus) within the upper layers of the skin, typically caused by forceful rubbing (friction), burning, freezing, chemical exposure or infection.

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Broccoli

Broccoli is an edible green plant in the cabbage family whose large flowering head is eaten as a vegetable.

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Bullous pemphigoid

Bullous pemphigoid is an acute or chronic autoimmune skin disease, involving the formation of blisters, more appropriately known as bullae, at the space between the epidermis and dermis skin layers.

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Bullying

Bullying is the use of force, threat, or coercion to abuse, intimidate or aggressively dominate others.

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Channel 4

Channel 4 is a British public-service television broadcaster that began transmission on 2 November 1982.

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Collagen

Collagen is the main structural protein in the extracellular space in the various connective tissues in animal bodies.

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Collagen, type VII, alpha 1

Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene.

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Dermatology

Dermatology (from ancient Greek δέρμα, derma which means skin and λογία, logia) is the branch of medicine dealing with the skin, nails, hair and its diseases.

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Dermis

The dermis or corium is a layer of skin between the epidermis (with which it makes up the cutis) and subcutaneous tissues, that primarily consists of dense irregular connective tissue and cushions the body from stress and strain.

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Desmoplakin

Desmoplakin is a protein in humans that is encoded by the DSP gene.

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Dominance (genetics)

Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.

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Epidermis

The epidermis is the outer layer of the three layers that make up the skin, the inner layers being the dermis and hypodermis.

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Epidermolysis bullosa dystrophica

Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs.

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Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS),is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.

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Esophageal stricture

A benign esophageal stricture, or peptic stricture, is a narrowing or tightening of the esophagus that causes swallowing difficulties.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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HBO

Home Box Office (HBO) is an American premium cable and satellite television network of Home Box Office, Inc..

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History of wound care

The history of wound care spans from prehistory to modern medicine.

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Human skin

The human skin is the outer covering of the body.

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Infection

Infection is the invasion of an organism's body tissues by disease-causing agents, their multiplication, and the reaction of host tissues to the infectious agents and the toxins they produce.

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Intermediate filament

Intermediate filaments (IFs) are cytoskeletal components found in the cells of vertebrate animal species, and perhaps also in other animals, fungi, plants, and unicellular organisms.

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Jojoba oil

Jojoba oil is the liquid produced in the seed of the Simmondsia chinensis (Jojoba) plant, a shrub, which is native to southern Arizona, southern California, and northwestern Mexico.

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Jonathan Pitre

Jonathan Pitre (June 2, 2000 – April 4, 2018) was a Canadian from Russell, Ontario, a small town near Ottawa.

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Jonny Kennedy

Jonny Kennedy (4 November 1966 – 26 September 2003) was the subject of the documentary The Boy Whose Skin Fell Off, which documented the final months of his life as he suffered from the rare inherited condition known as dystrophic epidermolysis bullosa (EB or DEB).

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Junctional epidermolysis bullosa (medicine)

Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone.

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Keratin

Keratin is one of a family of fibrous structural proteins.

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Keratin 14

Keratin 14 is a member of the type I keratin family of intermediate filament proteins.

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Keratin 5

Keratin 5, also known as KRT5, K5, or CK5, is a protein that is encoded in humans by the KRT5 gene.

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Kindler syndrome

Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary") is a rare congenital disease of the skin caused by a mutation in the KIND1 gene.

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Lamina lucida

The lamina lucida is a component of the basement membrane which is found between the epithelium and underlying connective tissue (e.g., epidermis and dermis of the skin).

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Laminin

Laminins are high-molecular weight (~400 to ~900 kDa) proteins of the extracellular matrix.

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List of genetic disorders

The following is a list of genetic disorders and if known, type of mutation and the chromosome involved.

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Mucous membrane

A mucous membrane or mucosa is a membrane that lines various cavities in the body and covers the surface of internal organs.

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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My Flesh and Blood

My Flesh and Blood is a 2003 documentary film by Jonathan Karsh chronicling a year in the life of the Tom family.

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Online Mendelian Inheritance in Man

Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.

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Pemphigus vulgaris

Pemphigus vulgaris is a rare chronic blistering skin disease and the most common form of pemphigus.

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Protein

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.

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Protein dimer

In biochemistry, a protein dimer is a macromolecular complex formed by two protein monomers, or single proteins, which are usually non-covalently bound.

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Skin

Skin is the soft outer tissue covering vertebrates.

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Skin biopsy

Skin biopsy is a biopsy technique in which a skin lesion is removed to be sent to a pathologist to render a microscopic diagnosis.

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Squamous cell skin cancer

Squamous-cell skin cancer, also known as cutaneous squamous-cell carcinoma (cSCC), is one of the main types of skin cancer along with basal cell cancer, and melanoma.

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Star Tribune

The Star Tribune is the largest newspaper in Minnesota.

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Sulforaphane

Sulforaphane (sulphoraphane in British English) is a compound within the isothiocyanate group of organosulfur compounds.

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The Sports Network

The Sports Network (TSN) is a Canadian English language sports specialty service.

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United Kingdom

The United Kingdom of Great Britain and Northern Ireland, commonly known as the United Kingdom (UK) or Britain,Usage is mixed with some organisations, including the and preferring to use Britain as shorthand for Great Britain is a sovereign country in western Europe.

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Redirects here:

Butterfly Disease, Butterfly child, Epidermolysis Bullosa.

References

[1] https://en.wikipedia.org/wiki/Epidermolysis_bullosa

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