Patients with epidermolysis bullosaFibrillar collagensAcquisitaPredominantlyBasement membraneInflammatoryGeneExtracellularChronicMoleculeProteinFormInherited diseaseChainExistRecognitionIncludeCommonPresentStructureDystrophic epidermMutationsAutoimmuneAnchoring fibrilsSevereSubtypesReportDomainHuman
Patients with epidermolysis bullosa2
- Most patients with epidermolysis bullosa acquisita (EBA) experience a slow onset and chronic disease that affects the trauma-prone extensor skin surfaces. (medscape.com)
- Vitamin C concentrations in patients with epidermolysis bullosa. (jefferson.edu)
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)
Acquisita11
- 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 a subset of patients with inflammatory epidermolysis bullosa acquisita, the onset of disease is somewhat rapid and more widespread. (medscape.com)
- In a published international consensus statement on mucous membrane pemphigoid, an expert panel decided to include this group of patients (previously designated as epidermolysis bullosa acquisita based in part on their autoantibodies to type VII collagen) in the category of mucous membrane pemphigoid. (medscape.com)
- Patients may have a medical history of inflammatory bowel disease, as it is associated with epidermolysis bullosa acquisita. (medscape.com)
- Epidermolysis bullosa acquisita has been reported to develop in a 73-year-old patient after a 2-week treatment of antibiotics. (medscape.com)
- The skin and mucous membrane manifestations of epidermolysis bullosa acquisita (EBA) take several forms, including a noninflammatory or mildly inflammatory disease, a generalized inflammatory disease, and a predominant mucous membrane disease. (medscape.com)
- The noninflammatory or mildly inflammatory form, also known as classic epidermolysis bullosa acquisita, is most common and manifests as tense vesicles, bullae, and erosions primarily on trauma-prone areas, including the extensor surfaces of hands, knuckles, elbows, knees, and ankles. (medscape.com)
- This form of epidermolysis bullosa acquisita usually heals with significant scar and milia formation. (medscape.com)
- The generalized inflammatory form of epidermolysis bullosa acquisita presents with widespread, tense vesicles and bullae (some hemorrhagic) and is not localized to trauma-prone sites. (medscape.com)
- This form of epidermolysis bullosa acquisita clinically resembles bullous pemphigoid or linear IgA bullous dermatosis. (medscape.com)
- A third variant of epidermolysis bullosa acquisita predominantly involves mucous membranes. (medscape.com)
Predominantly1
- A fibrillar collagen found predominantly in CARTILAGE and vitreous humor. (lookformedical.com)
Basement membrane1
- A non-fibrillar collagen found in the structure of BASEMENT MEMBRANE. (lookformedical.com)
Inflammatory1
- Chen J, Bielory L. Comparison of cytokine mediators in type 2 inflammatory conditions on the skin and ocular surface. (jefferson.edu)
Gene3
- DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). (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)
- 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)
Extracellular5
- Type III modules are present in both extracellular and intracellular proteins. (embl.de)
- 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)
- Collagen receptors are cell surface receptors that modulate signal transduction between cells and the EXTRACELLULAR MATRIX. (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)
Chronic1
- 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)
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)
Protein1
- One of three types of internal repeat within the plasma protein, fibronectin. (embl.de)
Form7
- This form clinically resembles porphyria cutanea tarda in elderly patients and the dominantly inherited form of epidermolysis bullosa dystrophica in children. (medscape.com)
- The most common form of fibrillar collagen. (lookformedical.com)
- A family of structurally related collagens that form the characteristic collagen fibril bundles seen in CONNECTIVE TISSUE. (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)
- The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers. (lookformedical.com)
- Several forms of collagen type V exist depending upon the composition of the subunits that form the trimer. (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)
Inherited disease1
- Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. (wikipedia.org)
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)
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)
Recognition1
- The tenth fibronectin type III repeat contains a RGD cell recognition sequence in a flexible loop between 2 strands. (embl.de)
Include1
- Collagen receptors include discoidin domain receptors, INTEGRINS, and glycoprotein VI. (lookformedical.com)
Common1
- Fibronectin type-III (FN3) repeats are both the largest and the most common of the fibronectin subdomains. (embl.de)
Present1
- A hydroxylated derivative of the amino acid LYSINE that is present in certain collagens. (lookformedical.com)
Structure2
Dystrophic epiderm5
- 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)
- 1], Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy. (wikipedia.org)
- Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. (nih.gov)
- DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). (nih.gov)
- All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS. (bvsalud.org)
Mutations1
- DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). (wikipedia.org)
Autoimmune1
- 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)
Anchoring fibrils2
- Anchoring fibrils are thought to form a structural link between the epidermal basement membrane and the fibrillar collagens in the upper dermis. (wikipedia.org)
- 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)
Severe1
- Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. (bvsalud.org)
Subtypes1
- Each type is further divided into multiple clinical subtypes. (nih.gov)
Report1
- We report the crystal structure of two adjacent fibronectin type III repeats from the Drosophila neural cell adhesion molecule neuroglian. (embl.de)
Domain2
- 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)
- 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)
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)