Recessive dystrophic epidermFunctional type VII collCOL7A1Fibrillar collagensAcquisitaMutationsGenePatientsProteinConnective tissueAntiparallelSubunitsCharacteristicGeneticsWidelyMatrixDominantHeterogeneousExtracellularPrimarilyBlistersMoleculeRDEBDiseaseBasementFormSkinFormsWild-typeHumanChainRecognitionMajorExistStructureDomainPresentProduction
Recessive dystrophic epiderm4
- Patients with recessive dystrophic epidermolysis bullosa (RDEB) lack functional type VII collagen owing to mutations in the gene COL7A1 and suffer severe blistering and chronic wounds that ultimately lead to infection and development of lethal squamous cell carcinoma. (nih.gov)
- Recessive dystrophic epidermolysis bullosa severe generalized (RDEB-sev gen) is the classic form of the condition and is the most severe. (medlineplus.gov)
- Other types of recessive dystrophic epidermolysis bullosa fall along a spectrum referred to as RDEB-generalized and localized (RDEB-gen and -loc). (medlineplus.gov)
- 1], Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy. (wikipedia.org)
Functional type VII coll1
- Mutations that allow a small amount of normal or partially functional type VII collagen to be produced lead to milder forms of the dystrophic epidermolysis bullosa. (medlineplus.gov)
COL7A15
- Mutations in the COL7A1 gene cause all forms of dystrophic epidermolysis bullosa. (medlineplus.gov)
- COL7A1 gene mutations alter the structure or disrupt the production of the type VII collagen subunit protein. (medlineplus.gov)
- DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). (wikipedia.org)
- citation needed] In the absence of mutations of the COL7A1 gene, an autoimmune response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa acquisita. (wikipedia.org)
- In May 2023, the FDA approved Vyjuvek for the treatment of wounds in people with dystrophic epidermolysis bullosa with mutation(s) in the collagen type VII alpha 1 chain (COL7A1) gene. (wikipedia.org)
Fibrillar collagens1
- Anchoring fibrils are thought to form a structural link between the epidermal basement membrane and the fibrillar collagens in the upper dermis. (wikipedia.org)
Acquisita17
- Epidermolysis bullosa acquisita (EBA) is a chronic autoimmune subepidermal blistering disease of the skin and mucus membranes. (medscape.com)
- Epidermolysis bullosa acquisita is caused by antibodies targeting type VII collagen, the major component of anchoring fibrils that connect the basement membrane to dermal structures. (medscape.com)
- A second clinical presentation, the inflammatory form of epidermolysis bullosa acquisita, involves a generalized vesiculobullous eruption primarily on the trunk and flexural areas. (medscape.com)
- Epidermolysis bullosa acquisita is rare in humans. (medscape.com)
- In animals, epidermolysis bullosa acquisita has been reported in dogs only. (medscape.com)
- In canine epidermolysis bullosa acquisita, the immunoglobulin G (IgG) autoantibodies also target the type VII collagen noncollagenous (NC1) domain, which shares greater than 80% homology in amino acid sequence with the human NC1 domain. (medscape.com)
- Various murine models have contributed to the understanding of the pathogenic role of antitype VII collagen antibodies and pathophysiology of epidermolysis bullosa acquisita. (medscape.com)
- 5, 6] More recently, affinity-purified antitype VII collagen autoantibodies from epidermolysis bullosa acquisita patients have induced blisters in an adult hairless mouse strain (SKH1), further supporting a pathogenic role of antitype collagen VII autoantibodies. (medscape.com)
- Immunization of type VII collagen in athymic nude SJL mice did not induce an autoimmune response, whereas the repletion of T cells from type VII collagen-immunized wild-type mice to the thymic mice showed autoantibody production and resulted in a blistering disease phenotype, supporting the role of T cells in the induction of epidermolysis bullosa acquisita. (medscape.com)
- The fact that epidermolysis bullosa acquisita is responsive to rituximab antibody to CD20 supports the role of B cells. (medscape.com)
- Epidermolysis bullosa acquisita (EBA) is a rare disease, with an incidence of 0.26 case per million population, which is 5% of all blistering diseases. (medscape.com)
- The race distribution of epidermolysis bullosa acquisita (EBA) is not known. (medscape.com)
- Epidermolysis bullosa acquisita (EBA) can occur at any age. (medscape.com)
- however, children with epidermolysis bullosa acquisita have been reported, including one child with the onset of epidermolysis bullosa acquisita at age 3 months. (medscape.com)
- Patients with epidermolysis bullosa acquisita (EBA), if treated and cared for properly, should expect to live a normal life span. (medscape.com)
- Epidermolysis bullosa acquisita is a chronic inflammatory disease with periods of partial remissions and exacerbations. (medscape.com)
- however, epidermolysis bullosa acquisita is relatively unresponsive to treatment and can cause significant morbidity. (medscape.com)
Mutations2
- Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene. (medlineplus.gov)
- Mutations that severely reduce or prevent the production of type VII collagen cause RDEB-sev gen. (medlineplus.gov)
Gene4
- This gene provides instructions for making a protein that forms the pieces (subunits) of a larger protein called type VII collagen. (medlineplus.gov)
- This classification was based on the notion that "collagen" was equivalent to "connective tissue", but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term "collagen diseases" now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (lookformedical.com)
- and (3) developing methods for delivery of extracutaneous gene therapy in epidermolysis bullosa. (stanford.edu)
- Our laboratory focuses on discovery, cloning, sequencing, and creating gene therapy approaches for patients with hereditary forms of epidermolysis bullosa, a serious (potentially lethal) skin disease. (stanford.edu)
Patients3
- The skin of DEB patients is thus highly susceptible to severe blistering. (wikipedia.org)
- citation needed] Collagen VII is also associated with the epithelium of the esophageal lining, and DEB patients may have chronic scarring, webbing, and obstruction of the esophagus. (wikipedia.org)
- A subset of patients have variations in which either IgG autoantibodies bind the central triple-helical collagenous (NC2) domain of type VII collagen, or immunoglobulin A (IgA), rather than IgG, targets type VII collagen. (medscape.com)
Protein3
- One of three types of internal repeat within the plasma protein, fibronectin. (embl.de)
- Initial studies demonstrated that rabbit antimouse type VII collagen antibodies, as well as rabbit antibodies raised against human recombinant protein type VII collagen, were able to induce blisters in mice. (medscape.com)
- Induction of an active model of autoimmunity against type VII collagen in a hairless mouse strain (SKH1) revealed that regulatory T cells, which have been identified for their ability to inhibit the development of autoimmune diseases, do not inhibit the development of autoantibodies against the self-protein mouse-type VII collagen. (medscape.com)
Connective tissue4
- A family of structurally related collagens that form the characteristic collagen fibril bundles seen in CONNECTIVE TISSUE. (lookformedical.com)
- A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. (lookformedical.com)
- Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. (lookformedical.com)
- A non-vascular form of connective tissue composed of CHONDROCYTES embedded in a matrix that includes CHONDROITIN SULFATE and various types of FIBRILLAR COLLAGEN. (lookformedical.com)
Antiparallel2
- The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers. (lookformedical.com)
- Each domain consists of two antiparallel beta sheets and is folded topologically identically to single fibronectin type III domains from the extracellular matrix proteins tenascin and fibronectin. (embl.de)
Subunits2
- Several forms of collagen type V exist depending upon the composition of the subunits that form the trimer. (lookformedical.com)
- Collagen type XI is heterotrimer containing alpha1(XI), alpha2(XI) and alpha3(XI) subunits. (lookformedical.com)
Characteristic1
- The RDEB-gen and -loc types involve scarring in the areas where blisters occur, but these forms of the condition do not cause the severe scarring characteristic of RDEB-sev gen. (medlineplus.gov)
Genetics1
- Epidermolysis bullosa Reference, Genetics Home. (wikipedia.org)
Widely3
- The signs and symptoms of dystrophic epidermolysis bullosa vary widely among affected individuals. (medlineplus.gov)
- A fibrillar collagen consisting of three identical alpha1(III) chains that is widely distributed in many tissues containing COLLAGEN TYPE I. It is particularly abundant in BLOOD VESSELS and may play a role in tissues with elastic characteristics. (lookformedical.com)
- A fibrillar collagen found widely distributed as a minor component in tissues that contain COLLAGEN TYPE I and COLLAGEN TYPE III. (lookformedical.com)
Matrix1
- Collagen receptors are cell surface receptors that modulate signal transduction between cells and the EXTRACELLULAR MATRIX. (lookformedical.com)
Dominant2
- Another major type of this condition is known as dominant dystrophic epidermolysis bullosa (DDEB). (medlineplus.gov)
- Considered together, the prevalence of recessive and dominant dystrophic epidermolysis bullosa is estimated to be 3.3 per million people. (medlineplus.gov)
Heterogeneous1
- 3] IgG autoantibodies specific for anchoring fibrils (type VII collagen) of the skin basement membrane have a heterogeneous subclass and light-chain composition, and their complement-activating capacities do not correlate with the inflammatory phenotype. (medscape.com)
Extracellular1
- Type III modules are present in both extracellular and intracellular proteins. (embl.de)
Primarily1
- A fibrillar collagen found primarily in interstitial CARTILAGE. (lookformedical.com)
Blisters3
- As the blisters heal, they result in severe scarring. (medlineplus.gov)
- The blisters heal with scarring, but it is less severe than in recessive forms of this condition. (medlineplus.gov)
- 7] The failure of rabbit antimouse type VII collagen antibodies to induce blisters in C5-deficient mice supports a role for complement activation in the disease pathogenesis. (medscape.com)
Molecule2
- Collagen VII is a very large molecule (300 kDa) that dimerizes to form a semicircular looping structure: the anchoring fibril. (wikipedia.org)
- We report the crystal structure of two adjacent fibronectin type III repeats from the Drosophila neural cell adhesion molecule neuroglian. (embl.de)
RDEB1
- These forms of the condition are somewhat less severe than RDEB-sev gen and are distinguished by the affected regions of the body. (medlineplus.gov)
Disease1
- Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. (wikipedia.org)
Basement2
- A non-fibrillar collagen found in the structure of BASEMENT MEMBRANE. (lookformedical.com)
- Collagen type IV molecules assemble to form a sheet-like network which is involved in maintaining the structural integrity of basement membranes. (lookformedical.com)
Form1
- The most common form of fibrillar collagen. (lookformedical.com)
Skin2
- Epidermolysis bullosa cause the skin to be very fragile and to blister easily. (medlineplus.gov)
- Type VII collagen plays an important role in strengthening and stabilizing the skin . (medlineplus.gov)
Forms1
- Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. (medlineplus.gov)
Wild-type1
- iPSC-derived keratinocytes were produced with minimal heterogeneity, and these cells secreted wild-type type VII collagen, resulting in stratified epidermis in vitro in organotypic cultures and in vivo in mice. (nih.gov)
Human1
- We have determined the 2.0 A crystal structure of a fragment of human fibronectin encompassing the seventh through the RGD-containing tenth type III repeats (FN7-10). (embl.de)
Chain1
- The C-terminal end of the alpha1 chain of collagen type XVIII contains the ENDOSTATIN peptide, which can be released by proteolytic cleavage. (lookformedical.com)
Recognition1
- The tenth fibronectin type III repeat contains a RGD cell recognition sequence in a flexible loop between 2 strands. (embl.de)
Major1
- Researchers classify dystrophic epidermolysis bullosa into major types based on the inheritance pattern and features of the condition. (medlineplus.gov)
Exist1
- There exist other types of inherited epidermolysis bullosa, junctional epidermolysis bullosa and epidermolysis bullosa simplex, which are not related to type VII collagen deficiency. (wikipedia.org)
Structure1
- Crystal structure of tandem type III fibronectin domains from Drosophila neuroglian at 2.0 A. (embl.de)
Domain1
- Collagen receptors include discoidin domain receptors, INTEGRINS, and glycoprotein VI. (lookformedical.com)
Present1
- A hydroxylated derivative of the amino acid LYSINE that is present in certain collagens. (lookformedical.com)
Production1
- These changes affect the production of type VII collagen. (medlineplus.gov)