![]() |
||||||||||||||||
|
||||||||||||||||
|
Dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosaA blistering skin condition inherited in both autosomal dominant and recessive manners and in which the filaments that anchor the epidermis to the underlying dermis are either absent or do not function. This is due to defects in the gene for type VII collagen, a fibrous protein that is the main component of the anchoring filaments. RELATED TERMS-------------------------------------- Skin Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat). Condition The term "condition" has a number of biomedical meanings including the following: 1.An unhealthy state, such as in "this is a progressive condition." 2.A state of fitness, such as "getting into condition." 3.Something that is essential to the occurrence of something else; essentially a "precondition." 4.As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning. Autosomal "Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). " Dominant A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes). A dominant trait is opposed to a recessive trait which is expressed only when two copies of the gene are present. (In genetic terms, a recessive trait is one that is phenotypically expressed only in homozygotes). Epidermis The outermost layer of skin. Gene 1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism. Collagen At a microscopic level, this is the 'skeleton' of most tissues in the body. Protein Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique genetically defined amino acid sequence which determines its specific shape and function. Their roles include enzymatic catalysis, transport and storage, coordinated motion, nerve impulse generation and many others. Anchoring In any scene, the object which is the lightest is perceived as being white, or is 'anchored' to white. SIMILAR TERMS-------------------------------------- Dysthymia A type of depression involving long-term, chronic symptoms that are not disabling, but keep a person from functioning at "full steam" or from feeling good. Dysthymia is a less severe type of depression than what is accorded the diagnosis of major depression. However, people with dysthymia may also sometimes experience major depressive episodes, suggesting that there is a continuum between dysthymia and major depression. Dystocia When labor does not progress. Uterine dystocia is when contractions donot intensify; shoulder dystocia is when a baby's Dystocia, fetal Dystocia caused by the fetus due to its size (too big), shape or position in the uterus. Dystonia Dystonia is a neurological movement disorder with involuntary muscle contractions, forcing specific parts of the body into abnormal movements or positions, sometimes causing pain. Dystonia musculorum deformans (DMD) Also called torsion dystonia, this is a fortunately rare, generalized dystonia (a state of abnormal -- either excessive of inadequate -- muscle tone) that can be inherited, usually begins in childhood, and becomes progressively worse. It can leave individuals seriously disabled and confined to a wheelchair. Dystonia, dopa-responsive (DRD) A condition that typically begins in childhood or adolescence with progressive difficulty in walking and, in some cases, spasticity and can be successfully treated with drugs. Segawa dystonia is an important variant of DRD. In Segawa dystonia, the symptoms fluctuate during the day from relative mobility in the morning to increasing disability in the afternoon and evening and after exercise. DRD may not only be rare but also rarely diagnosed since it mimics some forms of cerebral palsy. Dystonia, idiopathic torsion A form of dystonia known as early-onset torsion dystonia (also called generalized torsion dystonia) begins in childhood around the age of 12. Symptoms typically start in one part of the body, usually in an arm or leg, and eventually spread to the rest of the body within about 5 years. Early-onset torsion dystonia is not fatal, but it can be severely debilitating. Dystonia, oromandibular Oromandibular dystonia affects the muscles of the jaw, lips, and tongue. The jaw may be pulled either open or shut, and speech and swallowing can be difficult. Dystonia, Segawa An important variant form of dopa-responsive dystonia (DRD). DRD typically begins in childhood or adolescence with progressive difficulty in walking and, in some cases, with spasticity. DRD, by definition, can be successfully treated with dopa. In Segawa dystonia, the symptoms fluctuate during the day from relative mobility in the morning to increasingly worse disability in the afternoon and evening and after exercise. Dystonia, torsion A form of dystonia known as early-onset torsion dystonia (also called idiopathic or generalized torsion dystonia) begins in childhood around the age of 12. Symptoms typically start in one part of the body, usually in an arm or leg, and eventually spread to the rest of the body within about 5 years. Early-onset torsion dystonia is not fatal, but it can be severely debilitating. Most children with the disorder are unable to perform the simplest of motor tasks and are confined to a wheelchair by the time they reach adulthood. Dystopia Displacement. Dystrophin A protein, a chemical substance made by muscle fibers. Dystrophy Partial atrophy of tissue or an organ as a result of imperfect cell nutrition. Dystrophy, autoimmune polyendocrinopathy Dystrophy, autoimmune polyendocrinopathy-candidiasis-ectodermal (APECED) is a genetic autoimmune disease with an extraordinary array of clinical features but characterized most often by at least 2 of the following 3 findings: hypoparathyroidism -- underfunction of the parathyroid glands which control calcium, candidiasis (yeast infection), and adrenal insufficiency (underfunction of the adrenal gland). APECED was the first systemic (bodywide) autoimmune disease found due to a defect in a single gene. Dystrophy, cone A disease of the cones, the specialized light-sensitive cells that act as photoreceptors in the retina of the eye, providing sharp central vision and color vision. The cone dystrophies are a form of genetic macular degeneration characterized by progressive deterioration of the cones that leads to the distinctive triad of loss of color vision, photophobia, and reduced central vision. Cone dystrophy genes have been mapped to chromosome regions 6p21.1, 6q25-q26, 17p12-13, and Xp21.1-p11.3. In region 6p21.1, mutations have been found in the gene that encodes GCAP1, a key component in the recovery of photoreceptor cells to the dark-adapted state after exposure to a light stimulus. Dystrophy, muscular One of a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well. The major forms of muscular dystrophy include: Duchenne muscular dystrophy; Becker muscular dystrophy; limb-girdle muscular dystrophy; facioscapulohumeral muscular dystrophy; congenital muscular dystrophy; oculopharyngeal muscular dystrophy; distal muscular dystrophy; Emery-Dreifuss muscular dystrophy and myotonic dystrophy. Muscular dystrophy can affect people of all ages. Although some forms first become apparent in infancy or childhood, others may not appear until middle age or later. Duchenne muscular dystrophy is the most common kind of muscular dystrophy affecting children. Myotonic dystrophy is the most common of these diseases in adults. Dystrophy, myotonic An inherited disease in which the muscles contract but have decreasing power to relax -- this phenomenon is termed myotonia (irritability and prolonged contraction of muscles). The disease also produces leads to a mask-like expressionless face, premature balding, cataracts, and heart arrhythmias (abnormalities in heart rhythm). The onset of such problems is usually in young adulthood. However, onset can be at any age and the disease is extremely variable in the degree of severity. PREVIOUS AND NEXT TERMS-------------------------------------- Dystonia, dopa-responsive (DRD) A condition that typically begins in childhood or adolescence with progressive difficulty in walking and, in some cases, spasticity and can be successfully treated with drugs. Segawa dystonia is an important variant of DRD. In Segawa dystonia, the symptoms fluctuate during the day from relative mobility in the morning to increasing disability in the afternoon and evening and after exercise. DRD may not only be rare but also rarely diagnosed since it mimics some forms of cerebral palsy. Dystonia, idiopathic torsion A form of dystonia known as early-onset torsion dystonia (also called generalized torsion dystonia) begins in childhood around the age of 12. Symptoms typically start in one part of the body, usually in an arm or leg, and eventually spread to the rest of the body within about 5 years. Early-onset torsion dystonia is not fatal, but it can be severely debilitating. Dystonia, oromandibular Oromandibular dystonia affects the muscles of the jaw, lips, and tongue. The jaw may be pulled either open or shut, and speech and swallowing can be difficult. Dystonia, Segawa An important variant form of dopa-responsive dystonia (DRD). DRD typically begins in childhood or adolescence with progressive difficulty in walking and, in some cases, with spasticity. DRD, by definition, can be successfully treated with dopa. In Segawa dystonia, the symptoms fluctuate during the day from relative mobility in the morning to increasingly worse disability in the afternoon and evening and after exercise. Dystonia, torsion A form of dystonia known as early-onset torsion dystonia (also called idiopathic or generalized torsion dystonia) begins in childhood around the age of 12. Symptoms typically start in one part of the body, usually in an arm or leg, and eventually spread to the rest of the body within about 5 years. Early-onset torsion dystonia is not fatal, but it can be severely debilitating. Most children with the disorder are unable to perform the simplest of motor tasks and are confined to a wheelchair by the time they reach adulthood. Dystrophic epidermolysis bullosa Dystrophy, autoimmune polyendocrinopathy Dystrophy, autoimmune polyendocrinopathy-candidiasis-ectodermal (APECED) is a genetic autoimmune disease with an extraordinary array of clinical features but characterized most often by at least 2 of the following 3 findings: hypoparathyroidism -- underfunction of the parathyroid glands which control calcium, candidiasis (yeast infection), and adrenal insufficiency (underfunction of the adrenal gland). APECED was the first systemic (bodywide) autoimmune disease found due to a defect in a single gene. Dystrophy, cone A disease of the cones, the specialized light-sensitive cells that act as photoreceptors in the retina of the eye, providing sharp central vision and color vision. The cone dystrophies are a form of genetic macular degeneration characterized by progressive deterioration of the cones that leads to the distinctive triad of loss of color vision, photophobia, and reduced central vision. Cone dystrophy genes have been mapped to chromosome regions 6p21.1, 6q25-q26, 17p12-13, and Xp21.1-p11.3. In region 6p21.1, mutations have been found in the gene that encodes GCAP1, a key component in the recovery of photoreceptor cells to the dark-adapted state after exposure to a light stimulus. Dystrophy, muscular One of a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well. The major forms of muscular dystrophy include: Duchenne muscular dystrophy; Becker muscular dystrophy; limb-girdle muscular dystrophy; facioscapulohumeral muscular dystrophy; congenital muscular dystrophy; oculopharyngeal muscular dystrophy; distal muscular dystrophy; Emery-Dreifuss muscular dystrophy and myotonic dystrophy. Muscular dystrophy can affect people of all ages. Although some forms first become apparent in infancy or childhood, others may not appear until middle age or later. Duchenne muscular dystrophy is the most common kind of muscular dystrophy affecting children. Myotonic dystrophy is the most common of these diseases in adults. Dystrophy, myotonic An inherited disease in which the muscles contract but have decreasing power to relax -- this phenomenon is termed myotonia (irritability and prolonged contraction of muscles). The disease also produces leads to a mask-like expressionless face, premature balding, cataracts, and heart arrhythmias (abnormalities in heart rhythm). The onset of such problems is usually in young adulthood. However, onset can be at any age and the disease is extremely variable in the degree of severity. Dysuria Painful or difficult urination. This includes burning on urination. Dysuria is most commonly due to bacterial infection of the urinary tract causing inflammation of the bladder (cystitis) or kidney (pyelonephritis). In women, dysuria may also reflect inflammation of the vagina (vaginitis) or vulva (vulvitis). And in men, dysuria may be due to inflammation of the prostate (prostatitis) or the urethra (urethritis) from gonorrhea or chlamydia. We thank you for using the Medical Glossary to search for Dystrophic epidermolysis bullosa. If you have a better definition for Dystrophic epidermolysis bullosa than the one presented here, please let us know by making use of the suggest a term option. This definition of Dystrophic epidermolysis bullosa may be disputed by other professionals. Our attempt is to provide easy definitions on Dystrophic epidermolysis bullosa and any other medical topic for the public at large.
|
|||||||||||||||
| © Medical Glossary 2005. All rights reserved. | ||||||||||||||||
| dystrophicepidermolysisbullosa / ystrophic epidermolysis bullosa / dstrophic epidermolysis bullosa / dytrophic epidermolysis bullosa / dysrophic epidermolysis bullosa / dystophic epidermolysis bullosa / dystrphic epidermolysis bullosa / dystrohic epidermolysis bullosa / dystropic epidermolysis bullosa / dystrophc epidermolysis bullosa / dystrophi epidermolysis bullosa / dystrophicepidermolysis bullosa / dystrophic pidermolysis bullosa / dystrophic eidermolysis bullosa / dystrophic epdermolysis bullosa / dystrophic epiermolysis bullosa / dystrophic epidrmolysis bullosa / dystrophic epidemolysis bullosa / dystrophic epiderolysis bullosa / dystrophic epidermlysis bullosa / dystrophic epidermoysis bullosa / dystrophic epidermolsis bullosa / dystrophic epidermolyis bullosa / dystrophic epidermolyss bullosa / dystrophic epidermolysi bullosa / dystrophic epidermolysisbullosa / dystrophic epidermolysis ullosa / dystrophic epidermolysis bllosa / dystrophic epidermolysis bulosa / dystrophic epidermolysis bulosa / dystrophic epidermolysis bullsa / dystrophic epidermolysis bulloa / dystrophic epidermolysis bullos / ddystrophic epidermolysis bullosa / dyystrophic epidermolysis bullosa / dysstrophic epidermolysis bullosa / dysttrophic epidermolysis bullosa / dystrrophic epidermolysis bullosa / dystroophic epidermolysis bullosa / dystropphic epidermolysis bullosa / dystrophhic epidermolysis bullosa / dystrophiic epidermolysis bullosa / dystrophicc epidermolysis bullosa / dystrophic epidermolysis bullosa / dystrophic eepidermolysis bullosa / dystrophic eppidermolysis bullosa / dystrophic epiidermolysis bullosa / dystrophic epiddermolysis bullosa / dystrophic epideermolysis bullosa / dystrophic epiderrmolysis bullosa / dystrophic epidermmolysis bullosa / dystrophic epidermoolysis bullosa / dystrophic epidermollysis bullosa / dystrophic epidermolyysis bullosa / dystrophic epidermolyssis bullosa / dystrophic epidermolysiis bullosa / dystrophic epidermolysiss bullosa / dystrophic epidermolysis bullosa / dystrophic epidermolysis bbullosa / dystrophic epidermolysis buullosa / dystrophic epidermolysis bulllosa / dystrophic epidermolysis bulllosa / dystrophic epidermolysis bulloosa / dystrophic epidermolysis bullossa / dystrophic epidermolysis bullosaa / eystrophic epidermolysis bullosa / rystrophic epidermolysis bullosa / fystrophic epidermolysis bullosa / vystrophic epidermolysis bullosa / cystrophic epidermolysis bullosa / xystrophic epidermolysis bullosa / systrophic epidermolysis bullosa / wystrophic epidermolysis bullosa / d6strophic epidermolysis bullosa / d7strophic epidermolysis bullosa / dustrophic epidermolysis bullosa / djstrophic epidermolysis bullosa / dhstrophic epidermolysis bullosa / dgstrophic epidermolysis bullosa / dtstrophic epidermolysis bullosa / d5strophic epidermolysis bullosa / dywtrophic epidermolysis bullosa / dyetrophic epidermolysis bullosa / dydtrophic epidermolysis bullosa / dyxtrophic epidermolysis bullosa / dyztrophic epidermolysis bullosa / dyatrophic epidermolysis bullosa / dyqtrophic epidermolysis bullosa / dys5rophic epidermolysis bullosa / dys6rophic epidermolysis bullosa / dysyrophic epidermolysis bullosa / dyshrophic epidermolysis bullosa / dysgrophic epidermolysis bullosa / dysfrophic epidermolysis bullosa / dysrrophic epidermolysis bullosa / dys4rophic epidermolysis bullosa / dyst4ophic epidermolysis bullosa / dyst5ophic epidermolysis bullosa / dysttophic epidermolysis bullosa / dystgophic epidermolysis bullosa / dystfophic epidermolysis bullosa / dystdophic epidermolysis bullosa / dysteophic epidermolysis bullosa / dyst3ophic epidermolysis bullosa / dystr9phic epidermolysis bullosa / dystr0phic epidermolysis bullosa / dystrpphic epidermolysis bullosa / dystrlphic epidermolysis bullosa / dystrkphic epidermolysis bullosa / dystriphic epidermolysis bullosa / dystr8phic epidermolysis bullosa / dystro0hic epidermolysis bullosa / dystro-hic epidermolysis bullosa / dystro[hic epidermolysis bullosa / dystro;hic epidermolysis bullosa / dystrolhic epidermolysis bullosa / dystroohic epidermolysis bullosa / dystro9hic epidermolysis bullosa / dystropyic epidermolysis bullosa / dystropuic epidermolysis bullosa / dystropjic epidermolysis bullosa / dystropnic epidermolysis bullosa / dystropbic epidermolysis bullosa / dystropgic epidermolysis bullosa / dystroptic epidermolysis bullosa / dystrophc epidermolysis bullosa / dystrophix epidermolysis bullosa / dystrophis epidermolysis bullosa / dystrophid epidermolysis bullosa / dystrophif epidermolysis bullosa / dystrophiv epidermolysis bullosa / dystrophi epidermolysis bullosa / dystrophic 3pidermolysis bullosa / dystrophic 4pidermolysis bullosa / dystrophic rpidermolysis bullosa / dystrophic fpidermolysis bullosa / dystrophic dpidermolysis bullosa / dystrophic spidermolysis bullosa / dystrophic wpidermolysis bullosa / dystrophic e0idermolysis bullosa / dystrophic e-idermolysis bullosa / dystrophic e[idermolysis bullosa / dystrophic e;idermolysis bullosa / dystrophic elidermolysis bullosa / dystrophic eoidermolysis bullosa / dystrophic e9idermolysis bullosa / dystrophic epdermolysis bullosa / dystrophic epieermolysis bullosa / dystrophic epirermolysis bullosa / dystrophic epifermolysis bullosa / dystrophic epivermolysis bullosa / dystrophic epicermolysis bullosa / dystrophic epixermolysis bullosa / dystrophic episermolysis bullosa / dystrophic epiwermolysis bullosa / dystrophic epid3rmolysis bullosa / dystrophic epid4rmolysis bullosa / dystrophic epidrrmolysis bullosa / dystrophic epidfrmolysis bullosa / dystrophic epiddrmolysis bullosa / dystrophic epidsrmolysis bullosa / dystrophic epidwrmolysis bullosa / dystrophic epide4molysis bullosa / dystrophic epide5molysis bullosa / dystrophic epidetmolysis bullosa / dystrophic epidegmolysis bullosa / dystrophic epidefmolysis bullosa / dystrophic epidedmolysis bullosa / dystrophic epideemolysis bullosa / dystrophic epide3molysis bullosa / dystrophic epidernolysis bullosa / dystrophic epiderjolysis bullosa / dystrophic epiderkolysis bullosa / dystrophic epider,olysis bullosa / dystrophic epider olysis bullosa / dystrophic epiderm9lysis bullosa / dystrophic epiderm0lysis bullosa / dystrophic epidermplysis bullosa / dystrophic epidermllysis bullosa / dystrophic epidermklysis bullosa / dystrophic epidermilysis bullosa / dystrophic epiderm8lysis bullosa / dystrophic epidermooysis bullosa / dystrophic epidermopysis bullosa / dystrophic epidermo;ysis bullosa / dystrophic epidermo.ysis bullosa / dystrophic epidermo,ysis bullosa / dystrophic epidermokysis bullosa / dystrophic epidermoiysis bullosa / dystrophic epidermol6sis bullosa / dystrophic epidermol7sis bullosa / dystrophic epidermolusis bullosa / dystrophic epidermoljsis bullosa / dystrophic epidermolhsis bullosa / dystrophic epidermolgsis bullosa / dystrophic epidermoltsis bullosa / dystrophic epidermol5sis bullosa / dystrophic epidermolywis bullosa / dystrophic epidermolyeis bullosa / dystrophic epidermolydis bullosa / dystrophic epidermolyxis bullosa / dystrophic epidermolyzis bullosa / dystrophic epidermolyais bullosa / dystrophic epidermolyqis bullosa / dystrophic epidermolyss bullosa / dystrophic epidermolysiw bullosa / dystrophic epidermolysie bullosa / dystrophic epidermolysid bullosa / dystrophic epidermolysix bullosa / dystrophic epidermolysiz bullosa / dystrophic epidermolysia bullosa / dystrophic epidermolysiq bullosa / dystrophic epidermolysis vullosa / dystrophic epidermolysis fullosa / dystrophic epidermolysis gullosa / dystrophic epidermolysis hullosa / dystrophic epidermolysis nullosa / dystrophic epidermolysis ullosa / dystrophic epidermolysis b7llosa / dystrophic epidermolysis b8llosa / dystrophic epidermolysis billosa / dystrophic epidermolysis bkllosa / dystrophic epidermolysis bjllosa / dystrophic epidermolysis bhllosa / dystrophic epidermolysis byllosa / dystrophic epidermolysis b6llosa / dystrophic epidermolysis buolosa / dystrophic epidermolysis buplosa / dystrophic epidermolysis bu;losa / dystrophic epidermolysis bu.losa / dystrophic epidermolysis bu,losa / dystrophic epidermolysis buklosa / dystrophic epidermolysis builosa / dystrophic epidermolysis buloosa / dystrophic epidermolysis bulposa / dystrophic epidermolysis bul;osa / dystrophic epidermolysis bul.osa / dystrophic epidermolysis bul,osa / dystrophic epidermolysis bulkosa / dystrophic epidermolysis buliosa / dystrophic epidermolysis bull9sa / dystrophic epidermolysis bull0sa / dystrophic epidermolysis bullpsa / dystrophic epidermolysis bulllsa / dystrophic epidermolysis bullksa / dystrophic epidermolysis bullisa / dystrophic epidermolysis bull8sa / dystrophic epidermolysis bullowa / dystrophic epidermolysis bulloea / dystrophic epidermolysis bulloda / dystrophic epidermolysis bulloxa / dystrophic epidermolysis bulloza / dystrophic epidermolysis bulloaa / dystrophic epidermolysis bulloqa / dystrophic epidermolysis bullosq / dystrophic epidermolysis bullosw / dystrophic epidermolysis bulloss / dystrophic epidermolysis bullosx / dystrophic epidermolysis bullosz / | ||||||||||||||||