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Topic: Epidermolysis bullosa

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	Epidermolysis bullosa - Små och mindre kända handikappgrupper (Site not responding. Last check: 2007-10-07)
		Epidermolysis bullosa kan förenklat delas in i tre olika grupper beroende på var blåsorna ligger i olika hudlager, blåsornas svårighetsgrad och tendens till ärrbildningar:
		Dominanta former av epidermolysis bullosa kan också uppkomma genom en nymutation, dvs felet i arvsmassan uppträder för första gången hos personen själv och är alltså inte nedärvt.
		Vid epidermolysis bullosa medför avlossningen av överhuden att vätskefyllda blåsor och sår uppstår spontant eller vid lätt påverkan av huden.
	www.sos.se /smkh/1997-29-019/1997-29-019.htm (3358 words)

	Epidermolysis bullosa acquisita
		Epidermolysis bullosa acquisita is a rare autoimmune subepidermal bullous disease that affects both the skin and mucosae and is frequently associated with Crohn's disease.
		Epidermolysis bullosa acquisita (EBA) is a rare, immunobullous disease, characterized by circulating and tissue-bound antibodies against type VII collagen (C7) of anchoring fibrils in the cutaneous basement membrane zone.
		Epidermolysis bullosa acquisita (EBA) is an autoimmune subepidermal blistering disease characterized by IgG anti-basement membrane autoantibodies to collagen VII.
	www.thedoctorsdoctor.com /diseases/epidermolysis_bullosa_acquisita.htm (7877 words)

	Dr. Koop - Epidermolysis bullosa
		Epidermolysis bullosa is a group of inherited disorders where skin blisters develop in response to minor trauma.
		Another rare type of epidermolysis bullosa, called epidermolysis bullosa acquisita, is an autoimmune disorder.
		All of the different types of epidermolysis bullosa are generally inherited.
	www.drkoop.com /ency/93/001457.html (364 words)

	MedlinePlus Medical Encyclopedia: Epidermolysis bullosa
		Junctional epidermolysis bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndrome
		Epidermolysis bullosa is a group of inherited disorders in which skin blisters develop in response to minor injury.
		For epidermolysis bullosa acquisita, there is an association with Crohn's disease (an inflammatory bowel disease) and, possibly, lupus.
	www.nlm.nih.gov /medlineplus/ency/article/001457.htm (1391 words)

	Epidermolysis Bullosa - Definition, Causes, Symptoms and Treatment
		Epidermolysis bullosa (EB) encompasses a group of otherwise heterogeneous diseases mainly characterized by the presence of extremely fragile skin and recurrent formation of blister which results from minor mechanical friction or trauma.
		Epidermolysis bullosa (EB) may be a result of a dominant genetic abnormalit.
		Pidermolysis Bullosa generally caused by skin's structural abnormalities.Mostly Epidermolysis bullosa results due to the molecule abnormality.
	www.thebeautytips.com /beauty/skin-disorders/epidermolysis-bullosa.htm (444 words)

	PATIENTS SUFFERING FROM EPIDERMOLYSIS BULLOSA HEREDITARIA TREATED IN THE SIEM PIROGOV BURNS AND PLASTIC SURGERY CLINIC
		Hereditary dermatoses of the epidermolysis bullosa (EB) group are the result of improper connection of the epidermis to the basal membrane and the dermis.
		The epidermolysis bullosa hereditary disease group is a clinically, genetically, and biologically heterogeneous group of hereditary diseases that manifest themselves through blisters on the skin and mucosa that appear either spontaneously or as a result of tangential trauma caused by improper connection of the epidermis to the basal membrane and the dermis.
		The defect in the case of epidermolysis bullosa junctionalis is localized in the lamina lucida area of the basal dermoepidermal zone.
	www.medbc.com /annals/review/vol_14/num_3/text/vol14n3p146.asp (3034 words)

	Epidermolysis bullosa
		Epidermolysis bullosa is a usually inherited blistering disease of the skin and mouth membranes.
		Epidermolysis bullosa simplex (Dowling Meara type) is a genetic disease characterised by an abnormal keratin-filament network involving keratins K5 and K14.
		Epidermolysis bullosa acquisita antigen is the globular carboxyl terminus of type VII procollagen.
	www.maxillofacialcenter.com /BondBook/mucosa/eb.html (1929 words)

	EBAN: Epidermolysis Bullosa ACTION Network
		Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder where the body attacks its own anchoring fibrils with antibodies, the special proteins that help fight and destroy foreign substances that invade the body.
		Epidermolysis Bullosa is a difficult, sometimes painful, and often disfiguring disease.
		With the knowledge of specific gene mutations that cause EB, it is now possible to determine the specific gene mutation in the family and then to conduct prenatal tests on pregnant women with a fetus at risk of EB to determine the status of the fetus.
	www.ebanusa.org /abouteb.htm (2949 words)

	Epidermolysis bullosa
		BACKGROUND: Junctional epidermolysis bullosa (JEB) is a group of inherited blistering diseases characterized by epidermal-dermal separation resulting from mutations that affect the function of critical components of the basement membrane zone.
		Specifically, immunohistochemistry was diagnostic in 10 of 14 (71%) epidermolysis bullosa simplex cases, 14 of 14 (100%) junctional epidermolysis bullosa cases, and 9 of 11 (82%) dystrophic epidermolysis bullosa cases.
		In conclusion, the use of immunohistochemistry on routinely processed specimens may be useful for subclassifying epidermolysis bullosa into its major forms in the majority of the cases, although it still cannot fully replace electron microscopic examination or immunofluorescence mapping in the diagnosis of epidermolysis bullosa.
	www.thedoctorsdoctor.com /diseases/epidermolysis_bullosa.htm (3270 words)

	Epidermolysis Bullosa Simplex
		Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin that results in non-scarring blisters caused by little or no trauma.
		The three major types of epidermolysis bullosa syndrome, caused by mutations in ten different genes, are EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB).
		Epidermolysis bullosa simplex (EBS) is usually inherited in an autosomal dominant manner, but in rare families it can be inherited in an autosomal recessive manner.
	www.geneclinics.org /profiles/ebs/details.html (5013 words)

	Children's Skin Disease Foundation: Epidermolysis Bullosa
		Epidermolysis Bullosa, or EB for short, is the name given to a group of rare genetic skin disorders.
		Therefore Epidermolysis Bullosa means the breakdown and blistering of the skin.
		All forms of hereditary Epidermolysis Bullosa are caused by structural abnormalities in the skin.
	www.csdf.org /skin/eb.htm (1156 words)

	EPIDERMOLYSIS BULLOSA : Contact a Family - for families with disabled children: information on rare syndromes and ...
		Epidermolysis Bullosa (EB) is the term used to describe a number of genetically determined disorders whose principal characteristic is skin and/or mucous membrane fragility (for example in the mouth and oesophagus).
		Though a large number of distinct types of epidermolysis bullosa have been identified, in practice most cases can be placed in one of three categories: EB simplex, junctional EB and dystrophic EB.
		These are defined by the level at which there is a split between the epidermis (outer layer) and the dermis (inner layer) of the skin, which results in the characteristic fragility of EB.
	www.cafamily.org.uk /Direct/e30.html (666 words)

	Epidermolysis bullosa (Site not responding. Last check: 2007-10-07)
		Epidermolysis bullosa (EB) is a group of rare inherited skin diseases that are characterized by the development of blisters following minimal pressure to the skin.
		Epidermolysis bullosa has three major forms and at least 16 subtypes.
		Many cases of epidermolysis bullosa are often not accurately diagnosed and thus, are not reported.
	www.healthatoz.com /healthatoz/Atoz/ency/epidermolysis_bullosa.jsp (1061 words)

	Extent of Laminin-5 Assembly and Secretion Effect Junctional Epidermolysis Bullosa Phenotype -- Matsui et al. 187 (8): ...
		A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.
		Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.
		Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin-5 chain specific antibodies is of limited value in predicting the underlying gene mutation.
	www.jem.org /cgi/content/full/187/8/1273 (6291 words)

	A Homozygous Nonsense Mutation in the PLEC1 Gene in Patients with Epidermolysis Bullosa Simplex with Muscular Dystrophy ...
		A Homozygous Nonsense Mutation in the PLEC1 Gene in Patients with Epidermolysis Bullosa Simplex with Muscular Dystrophy
		We have recently reported that the skin and muscles of three patients affected by epidermolysis bullosa simplex with muscular dystrophy (MD-EBS), a genetic disorder characterized by skin blistering associated with muscle involvement, are not reactive with antibodies specific to plectin.
		Epidermolysis Bullosa Simplex Associated with Pyloric Atresia Is a Novel Clinical Subtype Caused by Mutations in the Plectin Gene (PLEC1)
	www.jci.org /cgi/content/abstract/98/10/2196 (696 words)

	Basic information about Epidermolysis Bullosa
		Epidermolysis Bullosa, or EB for short, is the name given to a group of rare genetic blistering skin disorders.
		The EBMRF is a volunteer nonprofit foundation dedicated to the support of medical research of Epidermolysis Bullosa (EB), its causes, the development of successful treatments, and ultimately, its cure.
		In 1886, Kobner introduced the name epidermolysis bullosa hereditaria to describe a multigeneration affected family with mildly generalized, predominantly acral, serous blistering.
	www.ebinfo.homestead.com /abouteb.html (2420 words)

	Epidermolysis Bullosa
		In seven of the nine patients, the decrease in blisters and erosion with PHT was 70%.
		reported that their epidermolysis bullosa patients treated with phenytoin had lower levels of arachidonic acid in plasma and erythrocyte phospholipids than did untreated EB patients.
		Although a trend favoring the use of phenytoin was evident, it was not statistically significant and the authors concluded that phenytoin is not effective in patients with recessive dystrophic epidermolysis bullosa.
	www.remarkablemedicine.com /Clinical/clinicaluses/healing/epidermolysis.html (2304 words)

	Epidermolysis Bullosa
		We must emphasize that no sourcebook on epidermolysis bullosa should affirm that a specific diagnostic procedure or treatment discussed in a research study, patent, or doctoral dissertation is “correct” or your best option.
		While this sourcebook covers epidermolysis bullosa, your doctor, research publications, and specialists may refer to your condition using a variety of terms.
		While we focus on the more scientific aspects of epidermolysis bullosa, there is, of course, the emotional side to consider.
	www.icongrouponline.com /health/Epidermolysis_Bullosa.html (1531 words)

	Electronic Textbook of Dermatology, BLISTERING DISEASES
		In junctional epidermolysis bullosa (JEB), which appears to be solely of recessive inheritance, laminin-5 a, b or g chains, BP180, b4 integrin, uncein (19- DEJ-1 antigen), or LAD-1 (123 antigen) may potentially be affected.
		In epidermolysis bullosa, the autoantibodies are found exclusively on the dermal side of the induced split, whereas in bullous pemphigoid, the antibodies are localized usually to the epidermal side, but occasionally to both the epidermal and dermal sides.
		Gene therapy for epidermolysis bullosa is now being developed as we have recently learned the coding sequences of many of the genes affected in epidermolysis bullosa.
	telemedicine.org /blister.htm (7606 words)

	► Epidermolysis bullosa
		A group of inherited disorders in which massive blistering of the skin develops in response to minor trauma.
		Epidermolysis bullosa simplex; Epidermolysis bullosa letalis; Weber-Cockayne syndrome; Dominant and recessive epidermolysis bullosa
		Epidermolysis bullosa consists of several different conditions, varying in severity from minor blistering to a lethal form in which the constant massive blistering and scarring ultimately lead to death.
	www.umm.edu /ency/article/001457.htm (236 words)

	Epidermolysis Bullosa Medical Research Foundation (Site not responding. Last check: 2007-10-07)
		The EBMRF is a nonprofit, sole purpose foundation dedicated to the support of medical research of epidermolysis bullosa (EB)--its causes, its cure, and the development of successful treatments.
		Epidermolysis Bullosa is seen in three primary forms: Epidermolysis bullosa simplex (EBS), Recessive dystrophic epidermolysis bullosa (RDEB), and Recessive junction epidermolysis bullosa (RJEB).
		The EB Medical Research Foundation was established in 1991 by Gary and Lynn Fechser Anderson at the request of Dr. Eugene A. Bauer, then Professor and Chairman of the Department of Dermatology, Stanford School of Medicine.
	www-med.stanford.edu /school/dermatology/ebmrf (1189 words)

	Epidermolysis Bullosa
		Epidermolysis Bullosa is a group of inherited disorders in which the skin and mucous membranes are so fragile that the slightest touch may cause painful blistering.
		Ryan Grant McClennen This page is a memorial to Ryan G McClennen, who passed away from complications of Epidermolysis Bullosa.
		The National Epidermolysis Bullosa Registry Epidermolysis bullosa is a rare, inherited disease characterized by the presence of extremely fragile skin, which results in the development of recurrent, painful blisters, open sores,...
	www.doctorpage.com /findit/Diseases_and_Conditions/Epidermolysis_Bullosa/index.htm (140 words)

	eMedicine - Epidermolysis Bullosa : Article by M Peter Marinkovich, MD
		Background: Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma.
		Internationally: According to the National Epidermolysis Bullosa Registry, the number of EB cases in Norway is 54.0 cases per million live births, in Japan is 7.8 cases per million live births, and in Croatia is 9.6 cases per million live births.
		Recessively inherited dystrophic epidermolysis bullosa, oral cavity blistering and scarring
	www.emedicine.com /DERM/topic124.htm (6286 words)

	Epidermolysis Bullosa
		It is possible that the main title of the report Epidermolysis Bullosa is not the name you expected.
		Epidermolysis Bullosa (EB) refers to a group of rare, inherited skin diseases characterized by recurring painful blisters and open sores, often in response to minor trauma, as a result of the unusually fragile nature of the skin.
		There are three major forms: Epidermolysis Bullosa Simplex (EB simplex), the most common; Dystrophic Epidermolysis Bullosa (DEB), and Junctional Epidermolysis Bullosa (JEB).
	www.bchealthguide.org /kbase/nord/nord1.htm (401 words)

	A Homozygous Nonsense Mutation in the PLEC1 Gene in Patients with Epidermolysis Bullosa Simplex with Muscular Dystrophy ...
		Goossens (1993) A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
		Haltia (1988) Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.
		Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa.
	www.jci.org /cgi/content/full/98/10/2196 (3590 words)

	Gale Encyclopedia of Medicine: Epidermolysis bullosa
		Epidermolysis bullosa is a group of rare inherited skin diseases marked by the development of blisters following minimal disturbance to the skin.
		Blistering often appears in infancy in response to simply being held or handled; in rarer forms of the disorder, EB can be life-threatening.
		There are three major forms of epidermolysis bullosa (EB) and at least 16 subtypes of the disorder.
	www.findarticles.com /p/articles/mi_g2601/is_0004/ai_2601000493 (953 words)

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