Epidermolysis bullosa
... epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bullosa (DEB), junctional epidermolysis bullosa (JEB), and ... Wikimedia Commons has media related to Epidermolysis bullosa. GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex ... "Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features". British ... Epidermis bullosa pruriginosa and albopapuloid epidermolysis bullosa (Pasini's disease) are rare subtypes of this disease. The ...
Junctional epidermolysis bullosa
... may refer to: Junctional epidermolysis bullosa (medicine) Junctional epidermolysis bullosa ( ... This disambiguation page lists articles associated with the title Junctional epidermolysis bullosa. If an internal link led you ...
Epidermolysis bullosa simplex
598 Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that ... are tied to the four major types of epidermolysis bullosa simplex. However, a small number of epidermolysis bullosa simplex ... Wikimedia Commons has media related to Epidermolysis bullosa simplex. GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa ... Epidermolysis bullosa simplex may be divided into multiple types: No cure for EB Treat symptoms Protect skin, stop blister ...
Epidermolysis bullosa dystrophica
There exist other types of inherited epidermolysis bullosa, junctional epidermolysis bullosa and epidermolysis bullosa simplex ... Epidermolysis bullosa Reference, Genetics Home. "dystrophic epidermolysis bullosa". Genetics Home Reference. Retrieved 2017-04- ... response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa ... Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. " ...
Epidermolysis bullosa acquisita
... , also known as acquired epidermolysis bullosa, is a longterm autoimmune blistering skin disease ... Kridin, Khalaf; Kneiber, Diana; Kowalski, Eric H.; Valdebran, Manuel; Amber, Kyle T. (August 2019). "Epidermolysis bullosa ... Acquired epidermolysis bullosa". www.orpha.net. Archived from the original on 30 July 2017. Retrieved 19 April 2019. ...
Lethal acantholytic epidermolysis bullosa
... is a fatal genetic skin disorder caused by mutations in DSP Desmoplakin List of ... conditions caused by problems with junctional proteins Epidermolysis bullosa See OMIM entry for complete details "Epidermolysis ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ... bullosa, lethal acantholytic , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih. ...
Junctional epidermolysis bullosa (medicine)
Junctional epidermolysis bullosa with pyloric atresia is a rare autosomal recessive form of junctional epidermolysis bullosa ... Epidermolysis bullosa Junctional epidermolysis bullosa (veterinary medicine) Skin lesion Freedberg IM, Fitzpatrick TB (2003). ... "Lethal junctional epidermolysis bullosa") is the most lethal type of epidermolysis bullosa, a skin condition in which most ... 557 Mitis junctional epidermolysis bullosa (also known as "Nonlethal junctional epidermolysis bullosa") is a skin condition ...
Junctional epidermolysis bullosa (veterinary medicine)
"Junctional Epidermolysis Bullosa". U.S. National Library of Medicine. "Junctional Epidermolysis Bullosa (JEB) Test". UC Davis. ... Junctional epidermolysis bullosa (JEB) is an inherited disorder that is also known as red foot disease or hairless foal ... "Junctional Epidermolysis Bullosa (JEB)". Animal Genetics. Abuterbush, Sameeh M. (2009). Illustrated Guide to Equine Disease. ...
CD151
Abnormalities in CD151 have been implicated in a form of epidermolysis bullosa. CD151 has been shown to interact with CD46. ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ... "Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations ...
Collagen, type XVII, alpha 1
Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa, as well as ... The disorder caused by biallelic COL17A1 mutations and is called junctional epidermolysis bullosa, an autosomal recessive skin ... 1997). "Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion". Cell. 88 (4): 543-51. doi:10.1016/ ... 1998). "Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa". J. ...
Keratin 14
September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID ... GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex Proteopedia page on keratins v t e (Articles with short ... Bonifas JM, Rothman AL, Epstein EH (November 1991). "Epidermolysis bullosa simplex: evidence in two families for keratin gene ... 1993). "A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa ...
Blister
Cutaneous radiation syndrome Epidermolysis bullosa: a genetic disorder that results in a detachment in the skin layers, ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ...
Basement membrane
September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID ... A group of diseases stemming from improper function of basement membrane zone are united under the name epidermolysis bullosa. ...
Laryngo-onycho-cutaneous syndrome
"Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ...
Keratin 5
Epidermolysis bullosa simplex (EBS) is an inherited skin blistering disorder associated with mutations in either K5 or K14. EBS ... "A Novel Keratin 5 Mutation in an African Family with Epidermolysis Bullosa Simplex Indicates the Importance of the Amino Acid ... Chan YM, Yu QC, Fine JD, Fuchs E (Aug 1993). "The genetic basis of Weber-Cockayne epidermolysis bullosa simplex". Proceedings ... GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex Keratin-5 at the U.S. National Library of Medicine Medical ...
Chronic wound
Coma blister
... such as epidermolysis bullosa, bullous pemphigoid, bullous amyloidosis, and epidermolysis bullosa acquisita, since bullous ... Epidermolysis bullosa (EB) is a genetic disease that causes the skin to be extremely fragile and individuals with the disease ... September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID ... There are thirty subtypes of epidermolysis bullosa which are arranged into four major categories: EB simplex (EBS), dystrophic ...
Hemidesmosome
With junctional epidermolysis bullosa, layers of the lamina lucida (part of the basal lamina) separate. This is caused by ... In dystrophic epidermolysis bullosa, the layers of the papillary dermis separate from the anchoring fibrils. This is caused by ... Desmosome Epidermolysis bullosa Focal adhesion Nguyen NM, Pulkkinen L, Schlueter JA, Meneguzzi G, Uitto J, Senior RM (2006). " ... There are three types of EB: EB simplex (EBS), dystrophic EB (DEB) and junctional EB (JEB). In epidermolysis bullosa simplex, ...
DEBRA
Epidermolysis bullosa is a genetic condition that in its most severe forms affects all of the body's linings, the skin, the ... Debra of America was founded in 1980 by Arlene Pessar and her son, Eric Lopez, who was born with epidermolysis bullosa. It is ... Although the backronym of Dystrophic Epidermolysis Bullosa Research Association has been used by DEBRA UK in the past, the ... Donations and proceeds from shops fund services for epidermolysis bullosa affected families and medical research into the ...
Transient bullous dermolysis of the newborn
It is characterized by blister formation secondary to even mild trauma.: 558 A subtype of dystrophic epidermolysis bullosa, it ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ... "Bullous Dermolysis of the Newborn and Dystrophic Epidermolysis Bullosa Pruriginosa within the Same Family: Two Phenotypes ...
Kindler syndrome
Rothmund-Thomson syndrome Epidermolysis bullosa List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ...
Plectin
GeneReviews/NCBI/NIH/UW entry on Epidermolysis Bullosa with Pyloric Atresia plectin at the U.S. National Library of Medicine ... Mutations in PLEC have been associated with epidermolysis bullosa simplex with muscular dystrophy. A missense variant of PLEC ... Pfendner E, Rouan F, Uitto J (Apr 2005). "Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations". ... Isolated left ventricular non-compaction accompanying epidermolysis bullosa simplex with muscular dystrophy was also noted. ...
Cutaneous squamous-cell carcinoma
September 2020). "Epidermolysis bullosa". Nature Reviews. Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. PMID ... such as xeroderma pigmentosum and certain forms of epidermolysis bullosa. cSCC begins from squamous cells found in the upper ...
Anchoring fibrils
Epidermolysis bullosa dystrophica, also known as Dystrophic EB (DEB) is a chronic skin condition caused when anchoring fibrils ... Burgeson, Robert E. (1993). "Type VII Collagen, Anchoring Fibrils, and Epidermolysis Bullosa". Journal of Investigative ... "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163 ... Lessons from dystrophic epidermolysis bullosa". Matrix Biology. 18 (1): 43-54. doi:10.1016/S0945-053X(98)00007-9. PMID 10367730 ...
Dermoepidermal junction
"Dermo-epidermal junction zone". Netzwerk Epidermolysis bullosa. 2006. Archived from the original on 11 February 2013. Retrieved ...
Cyproheptadine
So JY, Teng J (1993). "Epidermolysis Bullosa Simplex". In Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp ... and prevention of blister formation for some people with epidermolysis bullosa simplex. One of the effects of the drug is ...
Photopheresis
Gupta, R; Woodley, D. T.; Chen, M (2012). "Epidermolysis bullosa acquisita". Clinics in Dermatology. 30 (1): 60-9. doi:10.1016/ ... Photopheresis has also been successful in treating epidermolysis bullosa acquisita when all other treatments have been ...
Desmoplakin
A case of compound heterozygosity for two DSP nonsense mutations resulting in lethal acantholytic epidermolysis bullosa has ... McGrath JA, Bolling MC, Jonkman MF (Jan 2010). "Lethal acantholytic epidermolysis bullosa". Dermatologic Clinics. 28 (1): 131-5 ... "Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa". American Journal of Human Genetics. 77 (4): 653-60 ...
Olivia Rodrigo
Carvalho, Teresa (December 2, 2022). "Venture Into Cures Raises $1.3M for Epidermolysis Bullosa Research". EpidermolysisBullosa ... 6 million for the last 3 years to find a cure for Epidermolysis Bullosa and other rare diseases. In December 2022, Rodrigo with ... join Jill and Eddie Vedder for the third annual Venture into Cures benefit to find a cure for Epidermolysis Bullosa" (Press ...
List of OMIM disorder codes
COL7A1 Epidermolysis bullosa of hands and feet; 131800; ITGB4 Epidermolysis bullosa pruriginosa; 604129; COL7A1 Epidermolysis ... KRT5 Epidermolysis bullosa simplex with mottled pigmentation; 131960; KRT5 Epidermolysis bullosa simplex with pyloric atresia; ... PLEC1 Epidermolysis bullosa simplex, Dowling-Meara type; 131760; KRT14 Epidermolysis bullosa simplex, Dowling-Meara type; ... KRT14 Epidermolysis bullosa simplex, Weber-Cockayne type; 131800; KRT14 Epidermolysis bullosa simplex, Weber-Cockayne type; ...