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Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14. [ 1 ] : 598 [ 2 ] It is one of the major forms of epidermolysis bullosa , a group of genetic conditions that cause the skin to be very fragile and to blister easily.
Epidermolysis bullosa simplex (EBS) is a form of EB that causes blisters at the site of rubbing. It typically affects the hands and feet, and is typically inherited in an autosomal dominant manner, affecting the keratin genes KRT5 and KRT14. Therefore, there is a failure in keratinization, which affects the integrity and the ability of the skin ...
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. [ 1 ] [ 2 ] "Butterfly child" is the colloquial name for children born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly.
In 2017, PEOPLE shared the story of Brandon Joseph, who was born with epidermolysis bullosa (EB), a rare and incurable genetic condition that causes painful blisters on the skin and internal ...
16664 Ensembl ENSG00000186847 ENSMUSG00000045545 UniProt P02533 Q61781 RefSeq (mRNA) NM_000526 NM_016958 NM_001313956 NM_001313957 RefSeq (protein) NP_000517 NP_001300885 NP_001300886 NP_058654 Location (UCSC) Chr 17: 41.58 – 41.59 Mb Chr 11: 100.09 – 100.1 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Keratin 14 is a member of the type I keratin family of intermediate filament ...
Epidermolysis bullosa intraepidermic; Epidermolysis bullosa inversa dystrophica; Epidermolysis bullosa simplex with anodontia, hair; Epidermolysis bullosa simplex, Cockayne–Touraine type; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa, dermolytic; Epidermolysis bullosa, generalized ...
Epidermolysis bullosa simplex (EBS) is an inherited skin blistering disorder associated with mutations in either K5 or K14. [9] [17] [18] EBS-causing mutations are primarily missense mutations, but a small number of cases arise from insertions or deletions.
Epidermolysis bullosa is a rare type of genodermatosis, people with this disease have blisters on their skin and this disease is never completely cured for a lifetime. [13] Epidermolysis bullosa is mainly subdivided into four types: dystrophic epidermolysis bullosa , epidermolysis bullosa simplex, junctional epidermolysis bullosa and kindler ...