Epidermolysis bullosa simplex
... are tied to the four major types of epidermolysis bullosa simplex. However, a small number of epidermolysis bullosa simplex ... 598 Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that ... 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 ...
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 ...
List of OMIM disorder codes
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; ... KRT5 Epidermolysis bullosa simplex, Koebner type; 131900; KRT14 Epidermolysis bullosa simplex, Koebner type; 131900; KRT5 ...
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 ...
Keratin disease
The first to be identified was epidermolysis bullosa simplex. Examples of keratin disease include: List of cutaneous conditions ...
Hemidesmosome
There are three types of EB: EB simplex (EBS), dystrophic EB (DEB) and junctional EB (JEB). In epidermolysis bullosa simplex, ... 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). " ...
Keratin 14
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 ... Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex and dermatopathia pigmentosa ... "Entrez Gene: KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)". Bardhan A, Bruckner-Tuderman L, Chapple ...
Elaine Fuchs
"The genetic basis of epidermolysis bullosa simplex with mottled pigmentation". Proceedings of the National Academy of Sciences ... analysis showed this blistering to be nearly identical to the dermatological disorder epidermolysis bullosa simplex. Subsequent ...
Plectin
Mutations in PLEC have been associated with epidermolysis bullosa simplex with muscular dystrophy. A missense variant of PLEC ... Isolated left ventricular non-compaction accompanying epidermolysis bullosa simplex with muscular dystrophy was also noted. ... in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy". Human Molecular Genetics. 5 (10 ... and epidermolysis bullosa simplex due to plectin deficiency". Journal of Neuropathology and Experimental Neurology. 58 (8): 832 ...
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 ... They have been classified into the following types:: 596 Epidermolysis bullosa simplex (EBS) is a form of EB that causes ...
Collagen, type VII, alpha 1
Fine JD, Johnson L, Wright T (May 1989). "Epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa ... Recessive dystrophic epidermolysis bullosa, the most severe type of epidermolysis bullosa, has two subtypes, generalized ... Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita". The Journal of Dermatology. 45 (5): 515 ... Epidermolysis bullosa acquisita involves an autoimmune reaction to this form of collagen. Beremagene geperpavec (Vyjuvek), is a ...
Heinrich Koebner
Koebner was a renowned dermatologist known for his research of psoriasis, epidermolysis bullosa simplex and various fungal ...
BFSP2
... progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. The two BFSP proteins are put into a "type VI" of ...
Small interfering RNA
2008). Their therapeutic potential has also been assessed for various skin disorders like epidermolysis bullosa simplex ( ...
Desmosome
Epidermolysis bullosa simplex is an epidermal blistering disease caused by mutations in genes coding for keratin 5 and 14, ... Arrhythmogenic right ventricular cardiomyopathy Epidermolysis bullosa Hemidesmosome "Desmosome". Lexico UK English Dictionary. ...
Genodermatosis
Epidermolysis bullosa is mainly subdivided into four types: dystrophic epidermolysis bullosa, epidermolysis bullosa simplex, ... junctional epidermolysis bullosa and kindler syndrome. Almost 1 in 50,000 people has epidermolysis bullosa. Pachyonychia ... Cases of skin disease that may be inherited in this kind of mode include epidermolysis bullosa simplex (EBS), acute ... For instance, epidermolysis bullosa can be inherited in the mode of autosomal dominant or in the mode of autosomal recessive. ...
Institute of Genomics and Integrative Biology
... in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western ...
Vinod Scaria
... in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western ...
The Resilience Project
Cystic fibrosis Smith-Lemli-Opitz syndrome Familial dysautonomia Epidermolysis Bullosa simplex Pfeiffer syndrome Autoimmune ...
EBS
US Epidermolysis bullosa simplex, a disease Evolutionary Behavioral Sciences, a journal Webster City Municipal Airport, Iowa, ...
Beta thymosins
... and Epidermolysis bullosa simplex and was found to accelerate bed sore and stasis ulcer repair by one month. It has also been ...
Intermediate filament
Epidermolysis bullosa simplex; keratin 5 or keratin 14 mutation Laminopathies are a family of diseases caused by mutations in ...
Macrocephaly
... spondylodysplastic type Epidermolysis bullosa simplex Fragile X syndrome Giant axonal neuropathy Glutaric aciduria, type 1 ...
Irwin McLean
... muscular dystrophy with epidermolysis bullosa simplex and Meesmann corneal dystrophy. His work has established that a primary ...
Brandon Colby
Colby was born with epidermolysis bullosa simplex (EB), a rare genetic disease that causes the skin to be heat-sensitive and ...
Keratin
Alopecia Areata Epidermolysis bullosa simplex Ichthyosis bullosa of Siemens Epidermolytic hyperkeratosis Steatocystoma ...
Type II keratin
... such as epidermolysis bullosa simplex, a rare condition characterized by blistering and erosion of the skin and mucous ... epidermolysis bullosa, and pachyonychia congenita. Type I keratin Schweizer, Jürgen; Bowden, Paul E.; Coulombe, Pierre A.; ...
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. " ...
Coma blister
There are thirty subtypes of epidermolysis bullosa which are arranged into four major categories: EB simplex (EBS), dystrophic ... 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 ...
List of diseases (E)
... hair Epidermolysis bullosa simplex, Cockayne-Touraine type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa ... Dowling-Meara Epidermolysis bullosa intraepidermic Epidermolysis bullosa inversa dystrophica Epidermolysis bullosa simplex with ... simplex, Ogna type Epidermolysis bullosa, dermolytic Epidermolysis bullosa, generalized atrophic benign Epidermolysis bullosa, ... Herlitz-Pearson Epidermolysis bullosa, junctional, with pyloric atrophy Epidermolysis bullosa, junctional Epidermolysis bullosa ...