Materiały źródłowe

• #1 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Epidermolysis bullosa (EB) defines a group of rare, inherited dermatoses that present with repeated blistering, erosions, and ulceration in response to seemingly disproportionate mechanical trauma. This occurs due to genetically-mediated skin fragility defects within the dermo-epidermal junction. […] As epidermolysis bullosa results from defects within the dermo-epidermal junction, it is imperative to appreciate the components of this structure before understanding pathophysiology. […] The culmination of this dermo-epidermal junction malfunction is skin fragility. Erosions, blistering, and ulceration ensue in response to seemingly disproportionate mechanical trauma. […] Sixteen genes have been implicated in underpinning at least 30 observed epidermolysis bullosa subtypes. Each subtype features varying phenotypic severity and impact on morbidity and mortality.

• #1 Epidermolysis bullosa – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/symptoms-causes/syc-20361062

  Epidermolysis bullosa is caused by an inherited gene. You may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance). […] The types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. The skin injury might be brought on by a minor injury, bump or nothing at all. […] Epidermolysis bullosa simplex is brought on by heat and friction and develops in the outer layer of skin. […] Dystrophic epidermolysis bullosa is related to a flaw in the gene that helps produce a protein that glues the skin layers together. If this protein is missing or doesn’t function, the layers of the skin won’t join properly. […] The main types of epidermolysis bullosa are: Epidermolysis bullosa simplex, Junctional epidermolysis bullosa, Dystrophic epidermolysis bullosa, Kindler syndrome. […] Epidermolysis bullosa acquisita is distinct from these conditions, as it isn’t inherited and it’s rare in children.

• #2 Epidermolysis Bullosa: Symptoms, Causes, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/17792-epidermolysis-bullosa

  Epidermolysis bullosa (EB) is a group of genetic (inherited) disorders that causes your skin to be fragile and blister and tear easily. […] A mutation (defect) in one of 18 genes causes EB. People with the disorder have a missing or damaged gene that affects a protein used to make collagen. Collagen gives connective tissues, like skin, their strength and structure. Because of this defect, the epidermis and dermis layers of your skin dont bind together as they normally would. This results in skin thats fragile and blisters and tears easily. […] EB is usually an inherited disorder, which means that one parent may have it and pass it down to their children. […] In rare cases, EB may also be an acquired autoimmune disorder.

• #3 What is Epidermolysis Bullosa (EB)? | NIAMS

  https://www.niams.nih.gov/health-topics/epidermolysis-bullosa

  Most people who have epidermolysis bullosa inherit a mutated (changed) gene from their parents. The gene mutation changes how the body makes proteins that help the skin bind together and remain strong. If you have epidermolysis bullosa, one of these proteins does not form correctly. The layers of the skin do not bind normally, making it easy for the skin to tear and blister. […] Mutations (changes) to genes that you inherit from your parents cause most forms of epidermolysis bullosa. Genes carry information that determines which features are passed to you from your parents. We have two copies of most of our genes one from each parent. People with the disease have one or more genes that carry the incorrect instructions to make certain proteins in the skin. […] There are two types of inheritance patterns: Dominant, which means you inherit one normal copy and one copy of the gene that causes epidermolysis bullosa. The abnormal copy of the gene is stronger or dominant over the normal copy of the gene, causing the disease. A person with a dominant mutation has a 50% chance (1 in 2) of passing on the disorder to each of his or her children.

• #4 Causes of Epidermolysis Bullosa | Epidermolysis Bullosa NewsEnvelope icon

  https://epidermolysisbullosanews.com/causes-epidermolysis-bullosa/

  Kindler syndrome is another, and more rare, type of EB with autosomal recessive inheritance. […] Here, a mutation in one of the copies of a gene is enough for EB to develop. […] In autosomal dominant inheritance, there is a 50% chance that a child will develop EB. […] EB simplex, this disorder’s most common form, is usually inherited as an autosomal dominant disease, caused by defects in genes coding for keratin proteins. […] Dystrophic EB, another major disease form, is caused by defects in the COL7A1 gene that encodes for the type VII collagen protein. […] EB can also be caused by spontaneous mutations that occur in the egg or sperm cells of a parent. […] EB acquisita is an autoimmune disorder in which the body makes antibodies against the type VII collagen protein, resulting in a loss of anchoring fibrils and subsequent blistering.

• #4 What is Epidermolysis Bullosa (EB)? | NIAMS

  https://www.niams.nih.gov/health-topics/epidermolysis-bullosa

  Recessive, which means that your parents do not have the disease, but both parents have an abnormal gene that causes epidermolysis bullosa. When both parents carry the recessive genes, there is a 25% chance (1 out of 4) per pregnancy of having a child with the disease. There is a 50% chance (2 out of 4) per pregnancy of having a child who inherits one abnormal recessive gene, making them a carrier. […] Researchers know that epidermolysis bullosa acquisita is an autoimmune disease, but they do not know what causes the body to attack the collagen in a persons skin. Sometimes, people with autoimmune inflammatory bowel disease also develop epidermolysis bullosa acquisita. Rarely, medications cause the disease.

• #5 Causes of Epidermolysis Bullosa | Epidermolysis Bullosa NewsEnvelope icon

  https://epidermolysisbullosanews.com/causes-epidermolysis-bullosa/

  Epidermolysis bullosa (EB) is most often due to a genetic mutation that makes the skin extremely fragile and prone to often severe blistering. […] Genetic causes of EB include a defective gene that is inherited from one or both parents, or spontaneous mutations that can make the child the first in the family to have the disease. […] Non-genetic EB is caused by the immune system wrongly attacking healthy tissue. […] In most cases, patients inherit the defective gene causing EB from one or both parents. […] The faulty genes causing EB can be inherited in two ways — autosomal recessive and autosomal dominant. […] In this case, both copies of the gene, each inherited from one biological parent, are defective. […] Junctional EB, inherited in an autosomal recessive manner, is most commonly caused by defects in the genes that promote the formation of hemidesmosomes and anchoring fibrils.

• #6

  https://www.nhs.uk/conditions/epidermolysis-bullosa/

  Epidermolysis bullosa (EB) is the name for a group of rare inherited skin disorders that cause the skin to become very fragile. Any trauma or friction to the skin can cause painful blisters. […] EB is caused by a faulty gene (gene mutation) that makes skin more fragile. […] A child with EB might have inherited the faulty gene from a parent who also has EB. Or they might have inherited the faulty gene from both parents who are just „carriers” but don’t have EB themselves. […] The change to the gene can also happen by chance, when neither parent are carriers.

• #7 Causes of Epidermolysis Bullosa | Epidermolysis Bullosa NewsEnvelope icon

  https://epidermolysisbullosanews.com/causes-epidermolysis-bullosa/

  Kindler syndrome is another, and more rare, type of EB with autosomal recessive inheritance. […] Here, a mutation in one of the copies of a gene is enough for EB to develop. […] In autosomal dominant inheritance, there is a 50% chance that a child will develop EB. […] EB simplex, this disorder’s most common form, is usually inherited as an autosomal dominant disease, caused by defects in genes coding for keratin proteins. […] Dystrophic EB, another major disease form, is caused by defects in the COL7A1 gene that encodes for the type VII collagen protein. […] EB can also be caused by spontaneous mutations that occur in the egg or sperm cells of a parent. […] EB acquisita is an autoimmune disorder in which the body makes antibodies against the type VII collagen protein, resulting in a loss of anchoring fibrils and subsequent blistering.

• #8 Epidermolysis bullosa – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/symptoms-causes/syc-20361062

  Epidermolysis bullosa is caused by an inherited gene. You may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance). […] The types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. The skin injury might be brought on by a minor injury, bump or nothing at all. […] Epidermolysis bullosa simplex is brought on by heat and friction and develops in the outer layer of skin. […] Dystrophic epidermolysis bullosa is related to a flaw in the gene that helps produce a protein that glues the skin layers together. If this protein is missing or doesn’t function, the layers of the skin won’t join properly. […] The main types of epidermolysis bullosa are: Epidermolysis bullosa simplex, Junctional epidermolysis bullosa, Dystrophic epidermolysis bullosa, Kindler syndrome. […] Epidermolysis bullosa acquisita is distinct from these conditions, as it isn’t inherited and it’s rare in children.

• #9 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Epidermolysis bullosa (EB) defines a group of rare, inherited dermatoses that present with repeated blistering, erosions, and ulceration in response to seemingly disproportionate mechanical trauma. This occurs due to genetically-mediated skin fragility defects within the dermo-epidermal junction. […] As epidermolysis bullosa results from defects within the dermo-epidermal junction, it is imperative to appreciate the components of this structure before understanding pathophysiology. […] The culmination of this dermo-epidermal junction malfunction is skin fragility. Erosions, blistering, and ulceration ensue in response to seemingly disproportionate mechanical trauma. […] Sixteen genes have been implicated in underpinning at least 30 observed epidermolysis bullosa subtypes. Each subtype features varying phenotypic severity and impact on morbidity and mortality.

• #10 Epidermolysis bullosa – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/symptoms-causes/syc-20361062

  Epidermolysis bullosa is caused by an inherited gene. You may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance). […] The types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. The skin injury might be brought on by a minor injury, bump or nothing at all. […] Epidermolysis bullosa simplex is brought on by heat and friction and develops in the outer layer of skin. […] Dystrophic epidermolysis bullosa is related to a flaw in the gene that helps produce a protein that glues the skin layers together. If this protein is missing or doesn’t function, the layers of the skin won’t join properly. […] The main types of epidermolysis bullosa are: Epidermolysis bullosa simplex, Junctional epidermolysis bullosa, Dystrophic epidermolysis bullosa, Kindler syndrome. […] Epidermolysis bullosa acquisita is distinct from these conditions, as it isn’t inherited and it’s rare in children.

• #11 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Defective and deficient proteins arising from inherited or de novo genetic mutations result in dermo-epidermal junction malfunction. […] The phenotypic severity is often proportional to the degree of protein deficiency; therefore, relatively small quantities of functional protein reduce phenotypic severity as compared to an absolute loss of protein expression. […] Inherited epidermolysis bullosa is distinct from epidermolysis bullosa aquisita, a separate, non-inherited, immunobullous disorder characterized by antibodies against type VII collagen. […] Epidermolysis bullosa simplex arises when there is a defect in genes encoding proteins governing epidermal integrity. […] Several epidermolysis bullosa simplex subtypes exist: localized epidermolysis bullosa simplex, severe epidermolysis bullosa simplex, intermediate epidermolysis bullosa simplex, epidermolysis bullosa simplex with mottled pigmentation, migratory circinate epidermolysis bullosa simplex, intermediate epidermolysis bullosa simplex with cardiomyopathy, intermediate epidermolysis bullosa simplex with PLEC mutations, intermediate epidermolysis bullosa simplex with muscular dystrophy, severe epidermolysis bullosa simplex with pyloric atresia, autosomal recessive KRT5/KRT14 epidermolysis bullosa simplex, BP230 deficient epidermolysis bullosa simplex, exophilin 5 deficient epidermolysis bullosa simplex, and CD151 deficient epidermolysis bullosa simplex.

• #12 Epidermolysis bullosa simplex: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-simplex/

  Epidermolysis bullosa simplex can result from mutations in either the KRT5 or KRT14 gene. These genes provide instructions for making proteins called keratin 5 and keratin 14. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin (the epidermis). Mutations in either the KRT5 or KRT14 gene prevent the keratin proteins from assembling into strong networks, causing cells in the epidermis to become fragile and easily damaged. As a result, the skin is less resistant to friction and minor trauma and blisters easily. […] Mutations in another gene, PLEC, have been associated with the rare Ogna type of epidermolysis bullosa simplex. The PLEC gene provides instructions for making a protein called plectin, which helps attach the epidermis to underlying layers of skin. Researchers are working to determine how PLEC gene mutations lead to the major features of the condition.

• #13 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Seven mutated genes (KRT5, KRT14, KLHL24, PLEC, DST, EXPH5, CD151) have been isolated as causes of epidermolysis bullosa simplex. […] Junctional epidermolysis bullosa is characterized by blistering within the plane of the lamina lucida. […] Eight junctional epidermolysis bullosa subtypes have been identified: severe junctional epidermolysis bullosa; intermediate junctional epidermolysis bullosa; junctional epidermolysis bullosa with pyloric atresia; localized junctional epidermolysis bullosa; junctional epidermolysis bullosa inversa; late-onset junctional epidermolysis bullosa; laryngo-onycho-cutaneous syndrome; and junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome. […] Seven distinct mutated genes (LAMA3, LAMB3, LAMC2, COL17A, ITGA6, ITGB4, ITGA3) account for junctional epidermolysis bullosa.

• #14 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Seven mutated genes (KRT5, KRT14, KLHL24, PLEC, DST, EXPH5, CD151) have been isolated as causes of epidermolysis bullosa simplex. […] Junctional epidermolysis bullosa is characterized by blistering within the plane of the lamina lucida. […] Eight junctional epidermolysis bullosa subtypes have been identified: severe junctional epidermolysis bullosa; intermediate junctional epidermolysis bullosa; junctional epidermolysis bullosa with pyloric atresia; localized junctional epidermolysis bullosa; junctional epidermolysis bullosa inversa; late-onset junctional epidermolysis bullosa; laryngo-onycho-cutaneous syndrome; and junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome. […] Seven distinct mutated genes (LAMA3, LAMB3, LAMC2, COL17A, ITGA6, ITGB4, ITGA3) account for junctional epidermolysis bullosa.

• #15 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  Erosions, blistering, and ulceration ensue in response to seemingly disproportionate mechanical trauma. […] The resultant wounds are frequently persistent, prone to chronic inflammation, susceptible to infection, and are associated with significant pruritis, pain, and diminished quality of life. […] Seven mutated genes (KRT5, KRT14, KLHL24, PLEC, DST, EXPH5, CD151) have been isolated as causes of epidermolysis bullosa simplex. […] Mutated keratin proteins may lack mechanical stiffness (causing proteolysis, cellular stress, and cytolysis) and exhibit thermolability (causing increased blistering in warmer temperatures). […] Junctional epidermolysis bullosa is characterized by blistering within the plane of the lamina lucida. […] Seven distinct mutated genes (LAMA3, LAMB3, LAMC2, COL17A, ITGA6, ITGB4, ITGA3) account for junctional epidermolysis bullosa.

• #16 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Seven mutated genes (KRT5, KRT14, KLHL24, PLEC, DST, EXPH5, CD151) have been isolated as causes of epidermolysis bullosa simplex. […] Junctional epidermolysis bullosa is characterized by blistering within the plane of the lamina lucida. […] Eight junctional epidermolysis bullosa subtypes have been identified: severe junctional epidermolysis bullosa; intermediate junctional epidermolysis bullosa; junctional epidermolysis bullosa with pyloric atresia; localized junctional epidermolysis bullosa; junctional epidermolysis bullosa inversa; late-onset junctional epidermolysis bullosa; laryngo-onycho-cutaneous syndrome; and junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome. […] Seven distinct mutated genes (LAMA3, LAMB3, LAMC2, COL17A, ITGA6, ITGB4, ITGA3) account for junctional epidermolysis bullosa.

• #17 Epidermolysis Bullosa: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1062939-overview

  Junctional epidermolysis bullosa has a highly variable molecular etiology and represents a collection of different diseases. These diseases all cause blistering in the lamina lucida and variable hemidesmosomal abnormalities. Mutations in genes coding for laminin-332 subunits (alpha-3 chain, laminin beta-3 chain, laminin gamma-2 chain), collagen XVII (BP180), a6 integrin, and b4 integrin have been demonstrated. […] Dystrophic epidermolysis bullosa thus far has been associated in all cases with mutations of the gene coding for type VII collagen (COL7A1). Anchoring fibrils are affected in patients with dystrophic epidermolysis bullosa, and the degree of involvement ranges from subtle changes to complete absence.

• #18 Junctional epidermolysis bullosa: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa/

  Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, and COL17A1 genes. Mutations in each of these genes can cause JEB generalized severe or JEB generalized intermediate. LAMB3 gene mutations are the most common, causing about 70 percent of all cases of junctional epidermolysis bullosa. […] The LAMA3, LAMB3, and LAMC2 genes each provide instructions for making one part (subunit) of a protein called laminin 332. This protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Mutations in any of the three laminin 332 genes lead to the production of a defective or nonfunctional version of this protein. Without functional laminin 332, cells in the epidermis are fragile and easily damaged. Friction or other minor trauma can cause the skin layers to separate, leading to the formation of blisters.

• #19 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Seven mutated genes (KRT5, KRT14, KLHL24, PLEC, DST, EXPH5, CD151) have been isolated as causes of epidermolysis bullosa simplex. […] Junctional epidermolysis bullosa is characterized by blistering within the plane of the lamina lucida. […] Eight junctional epidermolysis bullosa subtypes have been identified: severe junctional epidermolysis bullosa; intermediate junctional epidermolysis bullosa; junctional epidermolysis bullosa with pyloric atresia; localized junctional epidermolysis bullosa; junctional epidermolysis bullosa inversa; late-onset junctional epidermolysis bullosa; laryngo-onycho-cutaneous syndrome; and junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome. […] Seven distinct mutated genes (LAMA3, LAMB3, LAMC2, COL17A, ITGA6, ITGB4, ITGA3) account for junctional epidermolysis bullosa.

• #20 Junctional epidermolysis bullosa: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa/

  Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, and COL17A1 genes. Mutations in each of these genes can cause JEB generalized severe or JEB generalized intermediate. LAMB3 gene mutations are the most common, causing about 70 percent of all cases of junctional epidermolysis bullosa. […] The LAMA3, LAMB3, and LAMC2 genes each provide instructions for making one part (subunit) of a protein called laminin 332. This protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Mutations in any of the three laminin 332 genes lead to the production of a defective or nonfunctional version of this protein. Without functional laminin 332, cells in the epidermis are fragile and easily damaged. Friction or other minor trauma can cause the skin layers to separate, leading to the formation of blisters.

• #21 Junctional epidermolysis bullosa: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa/

  Junctional epidermolysis bullosa most commonly results from mutations in the LAMA3, LAMB3, LAMC2, and COL17A1 genes. Mutations in each of these genes can cause JEB generalized severe or JEB generalized intermediate. LAMB3 gene mutations are the most common, causing about 70 percent of all cases of junctional epidermolysis bullosa. […] The LAMA3, LAMB3, and LAMC2 genes each provide instructions for making one part (subunit) of a protein called laminin 332. This protein plays an important role in strengthening and stabilizing the skin by helping to attach the top layer of skin (the epidermis) to underlying layers. Mutations in any of the three laminin 332 genes lead to the production of a defective or nonfunctional version of this protein. Without functional laminin 332, cells in the epidermis are fragile and easily damaged. Friction or other minor trauma can cause the skin layers to separate, leading to the formation of blisters.

• #22 Junctional epidermolysis bullosa: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa/

  The COL17A1 gene provides instructions for making a protein that is used to assemble type XVII collagen. Collagens are molecules that give structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body. Type XVII collagen helps attach the epidermis to underlying layers of skin, making the skin strong and flexible. Mutations in the COL17A1 gene prevent the normal formation of collagen XVII. As a result, the skin is less resistant to friction and minor trauma and blisters easily. Most COL17A1 gene mutations cause JEB generalized intermediate, although a few individuals with mutations in this gene have had the more serious JEB generalized severe. […] Very rarely, junctional epidermolysis bullosa is caused by mutations in another gene that provides instructions for making a different protein that helps attach the top layer of skin to underlying layers.

• #23 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Dystrophic epidermolysis bullosa may be inherited in autosomal dominant or recessive patterns, with the latter giving rise to more severe phenotypes. […] Dystrophic epidermolysis bullosa features fragility below the lamina densa due to mutant COL7A1 (collagen VII protein). […] Kindler epidermolysis bullosa is a consequence of an autosomal recessive defect in the FERMT1 gene, which produces faulty kindlin-1 proteins.

• #24 Epidermolysis Bullosa: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1062939-overview

  Junctional epidermolysis bullosa has a highly variable molecular etiology and represents a collection of different diseases. These diseases all cause blistering in the lamina lucida and variable hemidesmosomal abnormalities. Mutations in genes coding for laminin-332 subunits (alpha-3 chain, laminin beta-3 chain, laminin gamma-2 chain), collagen XVII (BP180), a6 integrin, and b4 integrin have been demonstrated. […] Dystrophic epidermolysis bullosa thus far has been associated in all cases with mutations of the gene coding for type VII collagen (COL7A1). Anchoring fibrils are affected in patients with dystrophic epidermolysis bullosa, and the degree of involvement ranges from subtle changes to complete absence.

• #25 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Dystrophic epidermolysis bullosa may be inherited in autosomal dominant or recessive patterns, with the latter giving rise to more severe phenotypes. […] Dystrophic epidermolysis bullosa features fragility below the lamina densa due to mutant COL7A1 (collagen VII protein). […] Kindler epidermolysis bullosa is a consequence of an autosomal recessive defect in the FERMT1 gene, which produces faulty kindlin-1 proteins.

• #26 Epidermolysis bullosa – Wikipedia

  https://en.wikipedia.org/wiki/Epidermolysis_bullosa

  Epidermolysis bullosa (EB) is due to a mutation in at least one of 16 different genes. […] The underlying mechanism is a defect in attachment between or within the layers of the skin. Loss or diminished function of type VII collagen leads to weakness in the structural architecture of the dermalepidermal junction (DEJ) and mucosal membranes. […] Dystrophic epidermolysis bullosa (DEB) is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). […] DEB-causing mutations can be either autosomal dominant or autosomal recessive.

• #27 Recessive Dystrophic Epidermolysis Bullosa (RDEB) | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/severe-recessive-dystrophic-epidermolysis-bullosa-rdeb/

  The more severe forms of DEB, in general, being inherited recessively. Everyone who has DEB (whether inherited in a dominant or recessive manner) has a reduction in, or complete absence of, an important protein called collagen VII. Collagen VII forms a part of anchoring fibrils, which are present in the skin. Anchoring fibrils act rather like Velcro hooks holding the layers of the skin together.

• #28 Epidermolysis bullosa – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/symptoms-causes/syc-20361062

  Epidermolysis bullosa is caused by an inherited gene. You may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance). […] The types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. The skin injury might be brought on by a minor injury, bump or nothing at all. […] Epidermolysis bullosa simplex is brought on by heat and friction and develops in the outer layer of skin. […] Dystrophic epidermolysis bullosa is related to a flaw in the gene that helps produce a protein that glues the skin layers together. If this protein is missing or doesn’t function, the layers of the skin won’t join properly. […] The main types of epidermolysis bullosa are: Epidermolysis bullosa simplex, Junctional epidermolysis bullosa, Dystrophic epidermolysis bullosa, Kindler syndrome. […] Epidermolysis bullosa acquisita is distinct from these conditions, as it isn’t inherited and it’s rare in children.

• #29 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  Dystrophic epidermolysis bullosa features fragility below the lamina densa due to mutant COL7A1 (collagen VII protein). […] Deficiency in type VII collagen manifests with skin fragility, blistering, scarring, milia, and mucosal involvement. […] Kindler epidermolysis bullosa is a consequence of an autosomal recessive defect in the FERMT1 gene, which produces faulty kindlin-1 proteins. […] This alters keratinocyte cytoskeleton maintenance and integrin activation.

• #30 Epidermolysis bullosa – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/symptoms-causes/syc-20361062

  Epidermolysis bullosa is caused by an inherited gene. You may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance). […] The types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. The skin injury might be brought on by a minor injury, bump or nothing at all. […] Epidermolysis bullosa simplex is brought on by heat and friction and develops in the outer layer of skin. […] Dystrophic epidermolysis bullosa is related to a flaw in the gene that helps produce a protein that glues the skin layers together. If this protein is missing or doesn’t function, the layers of the skin won’t join properly. […] The main types of epidermolysis bullosa are: Epidermolysis bullosa simplex, Junctional epidermolysis bullosa, Dystrophic epidermolysis bullosa, Kindler syndrome. […] Epidermolysis bullosa acquisita is distinct from these conditions, as it isn’t inherited and it’s rare in children.

• #31 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Dystrophic epidermolysis bullosa may be inherited in autosomal dominant or recessive patterns, with the latter giving rise to more severe phenotypes. […] Dystrophic epidermolysis bullosa features fragility below the lamina densa due to mutant COL7A1 (collagen VII protein). […] Kindler epidermolysis bullosa is a consequence of an autosomal recessive defect in the FERMT1 gene, which produces faulty kindlin-1 proteins.

• #32 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Dystrophic epidermolysis bullosa may be inherited in autosomal dominant or recessive patterns, with the latter giving rise to more severe phenotypes. […] Dystrophic epidermolysis bullosa features fragility below the lamina densa due to mutant COL7A1 (collagen VII protein). […] Kindler epidermolysis bullosa is a consequence of an autosomal recessive defect in the FERMT1 gene, which produces faulty kindlin-1 proteins.

• #33 Inherited epidermolysis bullosa | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-12

  JEB-H results from severe mutations within any of the three genes which encode for the three-chained adhesion molecule, laminin-332 (previously named laminin-5). […] All types of DEB result from mutations within the type VII collagen gene (COL7A1). […] Kindler syndrome, a rare autosomal recessive genodermatosis, is caused by mutations in the gene for kindlin-1, a recently discovered component of focal contacts in basal keratinocytes.

• #34 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  Dystrophic epidermolysis bullosa features fragility below the lamina densa due to mutant COL7A1 (collagen VII protein). […] Deficiency in type VII collagen manifests with skin fragility, blistering, scarring, milia, and mucosal involvement. […] Kindler epidermolysis bullosa is a consequence of an autosomal recessive defect in the FERMT1 gene, which produces faulty kindlin-1 proteins. […] This alters keratinocyte cytoskeleton maintenance and integrin activation.

• #35 In-Depth on Epidermolysis Bullosa (EB) | debra of America – Types, Symptoms & Treatments

  https://www.debra.org/about-eb/eb-depth

  Epidermolysis Bullosa, or EB, is a group of rare disorders caused by a mutation in one of 18 genes. There are four major types: Simplex, Junctional, Dystrophic, and Kindler, and the specific type of EB is determined by the affected gene. […] The two major subtypes of JEB are Severe JEB and Intermediate JEB. […] Junctional EB is an autosomal recessive disorder characterized by skin blistering with a plane of cleavage through the lamina lucida of the cutaneous basement membrane zone (BMZ). […] Dystrophic EB is characterized by a plane of skin cleavage just beneath the lamina densa in the most superficial portion of the dermis. […] Major subtypes of DEB include Localized DDEB, Intermediate DDEB, Intermediate RDEB, and Severe RDEB. […] Kindler EB is a rare type of EB with about 250 affected individuals reported worldwide since the first description in 1954.

• #36 Epidermolysis bullosa – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/symptoms-causes/syc-20361062

  Epidermolysis bullosa is caused by an inherited gene. You may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance). […] The types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. The skin injury might be brought on by a minor injury, bump or nothing at all. […] Epidermolysis bullosa simplex is brought on by heat and friction and develops in the outer layer of skin. […] Dystrophic epidermolysis bullosa is related to a flaw in the gene that helps produce a protein that glues the skin layers together. If this protein is missing or doesn’t function, the layers of the skin won’t join properly. […] The main types of epidermolysis bullosa are: Epidermolysis bullosa simplex, Junctional epidermolysis bullosa, Dystrophic epidermolysis bullosa, Kindler syndrome. […] Epidermolysis bullosa acquisita is distinct from these conditions, as it isn’t inherited and it’s rare in children.

• #37 Epidermolysis Bullosa Acquisita – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/bullous-diseases/epidermolysis-bullosa-acquisita

  Epidermolysis bullosa acquisita is a rare, acquired, chronic condition characterized by subepidermal blistering. […] The exact etiology of epidermolysis bullosa acquisita is not known, but data suggest it involves autoimmune antibodies directed against type VII collagen, a key component of the anchoring fibrils within the dermal-epithelial junction. […] Multiple myeloma, amyloidosis, lymphoma, inflammatory bowel disease, and systemic lupus erythematosus have been associated with epidermolysis bullosa acquisita but the nature of the relationship is unclear. […] Epidermolysis bullosa acquisita is distinct from the inherited disorder epidermolysis bullosa, which involves various genetic mutations.

• #38 Epidermolysis Bullosa Acquisita – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/bullous-diseases/epidermolysis-bullosa-acquisita

  Epidermolysis bullosa acquisita is a rare, acquired, chronic condition characterized by subepidermal blistering. […] The exact etiology of epidermolysis bullosa acquisita is not known, but data suggest it involves autoimmune antibodies directed against type VII collagen, a key component of the anchoring fibrils within the dermal-epithelial junction. […] Multiple myeloma, amyloidosis, lymphoma, inflammatory bowel disease, and systemic lupus erythematosus have been associated with epidermolysis bullosa acquisita but the nature of the relationship is unclear. […] Epidermolysis bullosa acquisita is distinct from the inherited disorder epidermolysis bullosa, which involves various genetic mutations.

• #39 Causes of Epidermolysis Bullosa | Epidermolysis Bullosa NewsEnvelope icon

  https://epidermolysisbullosanews.com/causes-epidermolysis-bullosa/

  Kindler syndrome is another, and more rare, type of EB with autosomal recessive inheritance. […] Here, a mutation in one of the copies of a gene is enough for EB to develop. […] In autosomal dominant inheritance, there is a 50% chance that a child will develop EB. […] EB simplex, this disorder’s most common form, is usually inherited as an autosomal dominant disease, caused by defects in genes coding for keratin proteins. […] Dystrophic EB, another major disease form, is caused by defects in the COL7A1 gene that encodes for the type VII collagen protein. […] EB can also be caused by spontaneous mutations that occur in the egg or sperm cells of a parent. […] EB acquisita is an autoimmune disorder in which the body makes antibodies against the type VII collagen protein, resulting in a loss of anchoring fibrils and subsequent blistering.

• #40 Causes of Epidermolysis Bullosa | Epidermolysis Bullosa NewsEnvelope icon

  https://epidermolysisbullosanews.com/causes-epidermolysis-bullosa/

  Kindler syndrome is another, and more rare, type of EB with autosomal recessive inheritance. […] Here, a mutation in one of the copies of a gene is enough for EB to develop. […] In autosomal dominant inheritance, there is a 50% chance that a child will develop EB. […] EB simplex, this disorder’s most common form, is usually inherited as an autosomal dominant disease, caused by defects in genes coding for keratin proteins. […] Dystrophic EB, another major disease form, is caused by defects in the COL7A1 gene that encodes for the type VII collagen protein. […] EB can also be caused by spontaneous mutations that occur in the egg or sperm cells of a parent. […] EB acquisita is an autoimmune disorder in which the body makes antibodies against the type VII collagen protein, resulting in a loss of anchoring fibrils and subsequent blistering.

• #41 Epidermolysis Bullosa Acquisita – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/bullous-diseases/epidermolysis-bullosa-acquisita

  Epidermolysis bullosa acquisita is a rare, acquired, chronic condition characterized by subepidermal blistering. […] The exact etiology of epidermolysis bullosa acquisita is not known, but data suggest it involves autoimmune antibodies directed against type VII collagen, a key component of the anchoring fibrils within the dermal-epithelial junction. […] Multiple myeloma, amyloidosis, lymphoma, inflammatory bowel disease, and systemic lupus erythematosus have been associated with epidermolysis bullosa acquisita but the nature of the relationship is unclear. […] Epidermolysis bullosa acquisita is distinct from the inherited disorder epidermolysis bullosa, which involves various genetic mutations.

• #42 Epidermolysis bullosa (EB): symptoms, treatment, and care – DEBRA UK

  https://www.debra.org.uk/get-support/eb-support-and-resources/epidermolysis-bullosa-eb/

  The specific cause of EBA is unknown but it is thought that immune proteins (proteins in the body that are part of the immune system) mistakenly attack healthy collagen the skin protein which binds the skin together. So, in effect the body starts to attack its own healthy tissue and that causes the blistering of the skin and the internal linings of the organs. […] EBA tends to be more common in people with other autoimmune diseases such as Crohns and Lupus.

• #43 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Defective and deficient proteins arising from inherited or de novo genetic mutations result in dermo-epidermal junction malfunction. […] The phenotypic severity is often proportional to the degree of protein deficiency; therefore, relatively small quantities of functional protein reduce phenotypic severity as compared to an absolute loss of protein expression. […] Inherited epidermolysis bullosa is distinct from epidermolysis bullosa aquisita, a separate, non-inherited, immunobullous disorder characterized by antibodies against type VII collagen. […] Epidermolysis bullosa simplex arises when there is a defect in genes encoding proteins governing epidermal integrity. […] Several epidermolysis bullosa simplex subtypes exist: localized epidermolysis bullosa simplex, severe epidermolysis bullosa simplex, intermediate epidermolysis bullosa simplex, epidermolysis bullosa simplex with mottled pigmentation, migratory circinate epidermolysis bullosa simplex, intermediate epidermolysis bullosa simplex with cardiomyopathy, intermediate epidermolysis bullosa simplex with PLEC mutations, intermediate epidermolysis bullosa simplex with muscular dystrophy, severe epidermolysis bullosa simplex with pyloric atresia, autosomal recessive KRT5/KRT14 epidermolysis bullosa simplex, BP230 deficient epidermolysis bullosa simplex, exophilin 5 deficient epidermolysis bullosa simplex, and CD151 deficient epidermolysis bullosa simplex.

• #44 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  Epidermolysis bullosa (EB) defines a prototypic group of rare, inherited dermatoses, characteristically featuring skin fragility secondary to structural defects in the dermo-epidermal junction. […] Sixteen genes have been implicated in underpinning at least 30 observed epidermolysis bullosa subtypes. […] As epidermolysis bullosa results from defects within the dermo-epidermal junction, it is imperative to appreciate the components of this structure before understanding pathophysiology. […] The culmination of this dermo-epidermal junction malfunction is skin fragility. […] Defective and deficient proteins arising from inherited or de novo genetic mutations result in dermo-epidermal junction malfunction. […] The phenotypic severity is often proportional to the degree of protein deficiency; therefore, relatively small quantities of functional protein reduce phenotypic severity as compared to an absolute loss of protein expression.

• #45 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Epidermolysis bullosa (EB) defines a group of rare, inherited dermatoses that present with repeated blistering, erosions, and ulceration in response to seemingly disproportionate mechanical trauma. This occurs due to genetically-mediated skin fragility defects within the dermo-epidermal junction. […] As epidermolysis bullosa results from defects within the dermo-epidermal junction, it is imperative to appreciate the components of this structure before understanding pathophysiology. […] The culmination of this dermo-epidermal junction malfunction is skin fragility. Erosions, blistering, and ulceration ensue in response to seemingly disproportionate mechanical trauma. […] Sixteen genes have been implicated in underpinning at least 30 observed epidermolysis bullosa subtypes. Each subtype features varying phenotypic severity and impact on morbidity and mortality.

• #46 Overview of the management of epidermolysis bullosa – UpToDate

  https://www.uptodate.com/contents/overview-of-the-management-of-epidermolysis-bullosa

  Epidermolysis bullosa (EB) is a heterogeneous group of hereditary mechanobullous diseases characterized by varying degrees of skin and mucosa fragility caused by mutations that affect skin structural proteins. […] There are four major types of EB, based upon the ultrastructural level of tissue cleavage in the skin: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB), and Kindler epidermolysis bullosa (KEB) (table 1) [1-3]. […] Severity is determined by the level of blistering and type of mutation and is highly variable among subtypes of EB (table 2A-C). […] There is no targeted therapy for EB, although this is an active area of investigation [4-6].

• #47 Epidermolysis Bullosa | Doctor

  https://patient.info/doctor/epidermolysis-bullosa-pro

  Epidermolysis bullosa is a group of genetic diseases characterised by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. […] Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. […] The genetic mutation causing RDEB has been identified. The degree of severity depends to some extent on the location of the mutation, although other familial and environmental factors are thought to play a part.

• #48 Orphanet: Dystrophic epidermolysis bullosa

  https://www.orpha.net/en/disease/detail/303

  DEB is caused by mutations in the COL7A1 (3p21.31) gene encoding type VII collagen. […] Mutations are either autosomal dominant (dominant DEB) or recessive (recessive DEB), and alter the function or reduce or disrupt the production of collagen VII. […] This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis, resulting in a cleavage plane below the lamina densa, within the upper papillary dermis. […] In the case of severe recessive DEB there is no collagen VII production.

• #49 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Epidermolysis bullosa (EB) defines a group of rare, inherited dermatoses that present with repeated blistering, erosions, and ulceration in response to seemingly disproportionate mechanical trauma. This occurs due to genetically-mediated skin fragility defects within the dermo-epidermal junction. […] As epidermolysis bullosa results from defects within the dermo-epidermal junction, it is imperative to appreciate the components of this structure before understanding pathophysiology. […] The culmination of this dermo-epidermal junction malfunction is skin fragility. Erosions, blistering, and ulceration ensue in response to seemingly disproportionate mechanical trauma. […] Sixteen genes have been implicated in underpinning at least 30 observed epidermolysis bullosa subtypes. Each subtype features varying phenotypic severity and impact on morbidity and mortality.

• #50 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  Epidermolysis bullosa (EB) defines a prototypic group of rare, inherited dermatoses, characteristically featuring skin fragility secondary to structural defects in the dermo-epidermal junction. […] Sixteen genes have been implicated in underpinning at least 30 observed epidermolysis bullosa subtypes. […] As epidermolysis bullosa results from defects within the dermo-epidermal junction, it is imperative to appreciate the components of this structure before understanding pathophysiology. […] The culmination of this dermo-epidermal junction malfunction is skin fragility. […] Defective and deficient proteins arising from inherited or de novo genetic mutations result in dermo-epidermal junction malfunction. […] The phenotypic severity is often proportional to the degree of protein deficiency; therefore, relatively small quantities of functional protein reduce phenotypic severity as compared to an absolute loss of protein expression.

• #51 Epidermolysis bullosa: Who gets and causes

  https://www.aad.org/public/diseases/a-z/epidermolysis-bullosa-causes

  EB is rare. It is estimated that between 25,000 and 50,000 people in the United States have EB. […] No type of EB is contagious. All but one type, epidermolysis bullosa acquisita (EBA), are caused by gene mutations. A mutation creates a slightly different version of a gene. […] When a child has EB, these slightly different genes mean the skin is missing the proteins needed to hold it together. Without these proteins, a gentle touch can cause the layers of skin to slide against each other, creating friction. Its this friction that causes blisters to form. […] The cause of EBA is a bit different. Its thought that this type of EB is an autoimmune disease. When someone develops an autoimmune disease, the persons immune system mistakes a part of the body as foreign and attacks it. […] When a person develops EBA, the body is attacking and destroying the proteins that hold the layers of skin together.

• #52 Epidermolysis bullosa – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/epidermolysis-bullosa/symptoms-causes/syc-20361062

  Epidermolysis bullosa is caused by an inherited gene. You may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance). […] The types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. The skin injury might be brought on by a minor injury, bump or nothing at all. […] Epidermolysis bullosa simplex is brought on by heat and friction and develops in the outer layer of skin. […] Dystrophic epidermolysis bullosa is related to a flaw in the gene that helps produce a protein that glues the skin layers together. If this protein is missing or doesn’t function, the layers of the skin won’t join properly. […] The main types of epidermolysis bullosa are: Epidermolysis bullosa simplex, Junctional epidermolysis bullosa, Dystrophic epidermolysis bullosa, Kindler syndrome. […] Epidermolysis bullosa acquisita is distinct from these conditions, as it isn’t inherited and it’s rare in children.

• #53 Epidermolysis bullosa | Altru Health System

  https://www.altru.org/health-library/conditions/epidermolysis-bullosa

  Epidermolysis bullosa is caused by an inherited gene. You may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance). […] The main types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. […] Epidermolysis bullosa simplex mainly affects the palms and the feet. […] Dystrophic epidermolysis bullosa prevents the layers of skin from joining as usual. […] The types of epidermolysis bullosa are mainly defined by which layers separate and form blisters. The skin injury might be brought on by a minor injury, bump or nothing at all.

• #54 Epidermolysis Bullosa: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1062939-overview

  Epidermolysis bullosa is a family of bullous disorders caused by an absence of basement membrane components due to underlying gene mutations. Epidermolysis bullosa is classified into four major categories: (1) epidermolysis bullosa simplex (intraepidermal skin separation), (2) junctional epidermolysis bullosa (skin separation in lamina lucida or central BMZ), (3) dystrophic epidermolysis bullosa (sublamina densa BMZ separation, as in the images below), and (4) Kindler syndrome (extremely rare, blistering at any level). […] Many stratified squamous epithelial tissues, such as the skin and oral mucosa, contain a complex basement membrane zone (BMZ). The BMZ is composed of many specialized components that combine to form anchoring complexes. At the superior aspect of the BMZ, keratin-containing intermediate filaments of the basal cell cytoskeleton insert on basal cell plasma membrane condensations termed hemidesmosomes.

• #55 Epidermolysis Bullosa: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/909549-overview

  Epidermolysis bullosa is a family of bullous disorders caused by an absence of basement membrane components due to underlying gene mutations. Epidermolysis bullosa is classified into four major categories: (1) epidermolysis bullosa simplex (intraepidermal skin separation), (2) junctional epidermolysis bullosa (skin separation in lamina lucida or central BMZ), (3) dystrophic epidermolysis bullosa (sublamina densa BMZ separation, as in the images below), and (4) Kindler syndrome (extremely rare, blistering at any level). […] Many stratified squamous epithelial tissues, such as the skin and oral mucosa, contain a complex basement membrane zone (BMZ). The BMZ is composed of many specialized components that combine to form anchoring complexes. At the superior aspect of the BMZ, keratin-containing intermediate filaments of the basal cell cytoskeleton insert on basal cell plasma membrane condensations termed hemidesmosomes.

• #56 Epidermolysis Bullosa | Types, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/e/epidermolysis-bullosa

  Epidermolysis Bullosa (EB) is a group of rare genetic conditions that affect one in every 50,000 children. Epidermolysis Bullosa is hereditary, meaning that the genes that cause it may be are present in other family members. […] There are four major types of EB. Although each subtype has a specific genetic cause, there is a wide range of severity, even within subtype. […] Diagnosis of EB can be confirmed by skin biopsies (sampling a small piece of skin) or with blood or saliva used for genetic testing. Genetic testing is the preferred diagnosis method. […] While there is no cure for EB, there are several research groups around the world that are working on new treatments for EB.

• #57 Epidermolysis Bullosa – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/bullous-diseases/epidermolysis-bullosa

  Epidermolysis bullosa is a group of inherited disorders that involve various genetic mutations. […] Genetically mediated defects in epithelial adhesion proteins result in skin and mucous membrane fragility, which predisposes the epithelium to easy bullae formation after minor trauma or sometimes spontaneously. […] Different types have different inheritance patterns. […] Epidermolysis bullosa simplex is the most common and mildest type, occurring in about 80% of cases. […] Epidermolysis bullosa is suspected based on clinical presentation. Family history may indicate the mode of inheritance and thus the possible type: autosomal dominant inheritance (epidermolysis bullosa simplex, dystrophic epidermolysis bullosa) or autosomal recessive inheritance (junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome, rarely epidermolysis bullosa simplex). […] Genetic testing is usually done to confirm specific disease type and guide genetic counseling. […] Epidermolysis bullosa is a group of inherited disorders causing bullous lesions of skin and mucous membranes.

• #58 Epidermolysis Bullosa | Types, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/e/epidermolysis-bullosa

  Epidermolysis Bullosa (EB) is a group of rare genetic conditions that affect one in every 50,000 children. Epidermolysis Bullosa is hereditary, meaning that the genes that cause it may be are present in other family members. […] There are four major types of EB. Although each subtype has a specific genetic cause, there is a wide range of severity, even within subtype. […] Diagnosis of EB can be confirmed by skin biopsies (sampling a small piece of skin) or with blood or saliva used for genetic testing. Genetic testing is the preferred diagnosis method. […] While there is no cure for EB, there are several research groups around the world that are working on new treatments for EB.

• #59 Junctional epidermolysis bullosa – BAD Patient Hub

  https://www.skinhealthinfo.org.uk/condition/junctional-epidermolysis-bullosa/

  Junctional epidermolysis bullosa (JEB) is a rare inherited (genetic) skin disorder. […] What causes junctional epidermolysis bullosa? […] The two outermost layers of the skin, called the epidermis and the dermis, are held together by a variety of proteins, known as anchoring proteins. In individuals who are affected by JEB, the structure of one or more of these anchoring proteins is faulty. […] Weakness of the anchoring proteins is caused by faults (mutations) in the genes carrying the instructions to keep them attached. […] A variety of such mutations have been identified in JEB. […] Abnormalities have been identified in genes encoding three proteins known as laminin-332 (previously called laminin 5), type XVII collagen and 64 integrin. […] Yes, JEB is an autosomal recessive inherited condition. […] In recessively inherited disorders such as JEB, a faulty gene from both parents will cause abnormal anchoring protein and the skin will be fragile. […] As a number of different genes may give rise to JEB, detailed genetic testing may be necessary before genetic counselling can be offered.

• #60 Junctional epidermolysis bullosa – BAD Patient Hub

  https://www.skinhealthinfo.org.uk/condition/junctional-epidermolysis-bullosa/

  Junctional epidermolysis bullosa (JEB) is a rare inherited (genetic) skin disorder. […] What causes junctional epidermolysis bullosa? […] The two outermost layers of the skin, called the epidermis and the dermis, are held together by a variety of proteins, known as anchoring proteins. In individuals who are affected by JEB, the structure of one or more of these anchoring proteins is faulty. […] Weakness of the anchoring proteins is caused by faults (mutations) in the genes carrying the instructions to keep them attached. […] A variety of such mutations have been identified in JEB. […] Abnormalities have been identified in genes encoding three proteins known as laminin-332 (previously called laminin 5), type XVII collagen and 64 integrin. […] Yes, JEB is an autosomal recessive inherited condition. […] In recessively inherited disorders such as JEB, a faulty gene from both parents will cause abnormal anchoring protein and the skin will be fragile. […] As a number of different genes may give rise to JEB, detailed genetic testing may be necessary before genetic counselling can be offered.

• #61 Epidermolysis Bullosa – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/bullous-diseases/epidermolysis-bullosa

  Epidermolysis bullosa is a group of inherited disorders that involve various genetic mutations. […] Genetically mediated defects in epithelial adhesion proteins result in skin and mucous membrane fragility, which predisposes the epithelium to easy bullae formation after minor trauma or sometimes spontaneously. […] Different types have different inheritance patterns. […] Epidermolysis bullosa simplex is the most common and mildest type, occurring in about 80% of cases. […] Epidermolysis bullosa is suspected based on clinical presentation. Family history may indicate the mode of inheritance and thus the possible type: autosomal dominant inheritance (epidermolysis bullosa simplex, dystrophic epidermolysis bullosa) or autosomal recessive inheritance (junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome, rarely epidermolysis bullosa simplex). […] Genetic testing is usually done to confirm specific disease type and guide genetic counseling. […] Epidermolysis bullosa is a group of inherited disorders causing bullous lesions of skin and mucous membranes.

• #62 Epidermolysis bullosa | Lima Memorial Health System

  https://www.limamemorial.org/m/health-library/HIE%20Multimedia/1/001457

  Epidermolysis bullosa (EB) is a group of disorders in which skin blisters form after a minor injury. It is passed down in families. […] Family history is a risk factor. The risk is higher if a parent has this condition. […] Another rare type of EB is called epidermolysis bullosa acquisita. This form develops after birth. It is an autoimmune disorder, which means the body attacks itself. […] Genetic counseling is recommended for prospective parents who have a family history of any form of epidermolysis bullosa.

• #63 Overview of the management of epidermolysis bullosa – UpToDate

  https://www.uptodate.com/contents/overview-of-the-management-of-epidermolysis-bullosa

  Epidermolysis bullosa (EB) is a heterogeneous group of hereditary mechanobullous diseases characterized by varying degrees of skin and mucosa fragility caused by mutations that affect skin structural proteins. […] There are four major types of EB, based upon the ultrastructural level of tissue cleavage in the skin: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB), and Kindler epidermolysis bullosa (KEB) (table 1) [1-3]. […] Severity is determined by the level of blistering and type of mutation and is highly variable among subtypes of EB (table 2A-C). […] There is no targeted therapy for EB, although this is an active area of investigation [4-6].

• #64 Epidermolysis Bullosa | Types, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/e/epidermolysis-bullosa

  Epidermolysis Bullosa (EB) is a group of rare genetic conditions that affect one in every 50,000 children. Epidermolysis Bullosa is hereditary, meaning that the genes that cause it may be are present in other family members. […] There are four major types of EB. Although each subtype has a specific genetic cause, there is a wide range of severity, even within subtype. […] Diagnosis of EB can be confirmed by skin biopsies (sampling a small piece of skin) or with blood or saliva used for genetic testing. Genetic testing is the preferred diagnosis method. […] While there is no cure for EB, there are several research groups around the world that are working on new treatments for EB.

• #65 Epidermolysis bullosa

  https://www.rch.org.au/kidsinfo/fact_sheets/epidermolysis_bullosa/

  Epidermolysis bullosa (epi-dermo-lie-sis bull-owe-sa, also called EB) is a group of rare genetic diseases that cause very fragile skin. The genetic changes in EB cause these proteins to be reduced or missing, and this results in easy blistering and skin breakdown with minor injury. […] EB is not contagious, it is a genetic (inherited) skin condition. It cannot be caught by coming into contact with people who have it. […] There is significant research being conducted worldwide for EB, including gene therapy and cell-based therapy, as well as wound healing creams. These therapies aim to improve quality of life for people with EB.

• #66 What is EB? – EB Research Partnership

  https://www.ebresearch.org/what-is-eb.html

  Epidermolysis Bullosa (EB) is a family of life-threatening rare genetic disorders that affect the body’s largest organ: the skin. […] Individuals with EB lack critical proteins that bind the skin’s two layers together. Without these proteins, the skin tears apart, blisters, and shears off, leading to severe pain, disfigurement, and internal and external wounds that may never heal. […] Genetic disorders, like EB, are usually passed down from parents to offspring. However, they also can be caused by a spontaneous DNA mutation in extremely rare cases. EBS and DDEB are passed down through dominant inheritance. This means only one copy of the mutated gene, from either the mother or father, is needed for a child to express the disorder. RDEB, JEB, and Kindler Syndrome are all passed down through recessive inheritance. This means that a child needs to get 2 copies of the mutated gene, one from each parent, to express the disease. Children can also be carriers of the gene, which means they’re able to pass it down to their children, but do not express the disorder.

• #67 Epidermolysis bullosa

  https://www.rch.org.au/kidsinfo/fact_sheets/epidermolysis_bullosa/

  Epidermolysis bullosa (epi-dermo-lie-sis bull-owe-sa, also called EB) is a group of rare genetic diseases that cause very fragile skin. The genetic changes in EB cause these proteins to be reduced or missing, and this results in easy blistering and skin breakdown with minor injury. […] EB is not contagious, it is a genetic (inherited) skin condition. It cannot be caught by coming into contact with people who have it. […] There is significant research being conducted worldwide for EB, including gene therapy and cell-based therapy, as well as wound healing creams. These therapies aim to improve quality of life for people with EB.

• #68 What is Epidermolysis Bullosa (EB)? – InMed Pharmaceuticals

  https://www.inmedpharma.com/media-news/what-is-epidermolysis-bullosa-eb/

  DEB is characterized by a lack of adhesion of the skin under the basement membrane. Approximately 30% of people with EB have DEB. […] This type of EB is rare and usually becomes apparent at birth or soon after. […] Epidermolysis bullosa acquisita is a rare type that is not inherited. The blisters result from the immune system attacking healthy tissue by mistake. […] Generalized blistering caused by any subtype may be complicated by infection, sepsis, and death, especially in infancy. […] As a genetic disease, EB has no cure and, as an orphan disease, there are no approved products specifically for this indication. […] Effective management of EB patients involves a collaborative approach between several specialists, including surgeons, dermatologists, ophthalmologists, dentists, psychologists, physiotherapists and geneticists.

• #69 Epidermolysis Bullosa | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/epidermolysis-bullosa

  Epidermolysis bullosa (EB) is a rare genetic disease that causes painful skin blistering. […] In most cases, epidermolysis bullosa is an inherited condition. In some forms, it is inherited from both parents (recessive inheritance), which means that both parents must be carriers of the gene for the disease to appear in a child, even though the parents themselves may have no symptoms. In other forms, the disease is inherited from one parent (dominant inheritance). […] A family history of epidermolysis bullosa a parent, grandparent, aunt or uncle with the disease increases the likelihood that a child will have it. […] Research is underway to better understand the causes of epidermolysis bullosa and seek new treatments and potential cures.

• #70 Epidermolysis bullosa

  https://www.rch.org.au/kidsinfo/fact_sheets/epidermolysis_bullosa/

  Epidermolysis bullosa (epi-dermo-lie-sis bull-owe-sa, also called EB) is a group of rare genetic diseases that cause very fragile skin. The genetic changes in EB cause these proteins to be reduced or missing, and this results in easy blistering and skin breakdown with minor injury. […] EB is not contagious, it is a genetic (inherited) skin condition. It cannot be caught by coming into contact with people who have it. […] There is significant research being conducted worldwide for EB, including gene therapy and cell-based therapy, as well as wound healing creams. These therapies aim to improve quality of life for people with EB.

• #71 What is Epidermolysis Bullosa (EB)? – InMed Pharmaceuticals

  https://www.inmedpharma.com/media-news/what-is-epidermolysis-bullosa-eb/

  Current medications are employed in control of pain (various types of analgesics including nonsteroidal anti-inflammatory drugs, or NSAIDS, tricyclic antidepressants, gabapentin and narcotics) and pruritus (antihistamines etc.) and to address complications such as local infection and septicemia (local and systemic antibiotics). […] Tetracycline is considered to be beneficial in improving the blistering and epithelial disadhesion.

• #72 What is Epidermolysis Bullosa (EB)? – InMed Pharmaceuticals

  https://www.inmedpharma.com/media-news/what-is-epidermolysis-bullosa-eb/

  DEB is characterized by a lack of adhesion of the skin under the basement membrane. Approximately 30% of people with EB have DEB. […] This type of EB is rare and usually becomes apparent at birth or soon after. […] Epidermolysis bullosa acquisita is a rare type that is not inherited. The blisters result from the immune system attacking healthy tissue by mistake. […] Generalized blistering caused by any subtype may be complicated by infection, sepsis, and death, especially in infancy. […] As a genetic disease, EB has no cure and, as an orphan disease, there are no approved products specifically for this indication. […] Effective management of EB patients involves a collaborative approach between several specialists, including surgeons, dermatologists, ophthalmologists, dentists, psychologists, physiotherapists and geneticists.

• #73 Epidermolysis Bullosa: A Rare Genetic Disease – Texas Dermatology

  https://texasdls.com/epidermolysis-bullosa-a-rare-genetic-disease/

  Epidermolysis Bullosa defines the name for a group of diseases that cause a defect in the proteins that hold the layers of skin together and give them their strength. […] Genetic and prenatal testing may also be done since the condition is mostly inherited. […] There is still much more to learn about how we can prevent and manage this disease.

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