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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.
The inherited disease, dystrophic epidermolysis bullosa, is caused by recessive or dominant mutations in COL7A1. [17] Recessive dystrophic epidermolysis bullosa, the most severe type of epidermolysis bullosa, has two subtypes, generalized intermediate and generalized severe, which have been linked to different mutations in the COL7A1 gene.
Junctional epidermolysis bullosa with pyloric atresia is a rare autosomal recessive form of junctional epidermolysis bullosa that presents at birth with severe mucocutaneous fragility and gastric outlet obstruction. [5] [6]: 557 It can be associated with ITGB4 or ITGA6. [7] This condition is also known as Carmi syndrome.
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.
Dystrophic epidermolysis bullosa; Ectodermal dysplasia; Ectodermal dysplasia with corkscrew hairs; Ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC syndrome, split hand–split foot–ectodermal dysplasia–cleft syndrome) Epidermolysis bullosa herpetiformis (Dowling–Meara epidermolysis bullosa simplex) Epidermolysis bullosa simplex
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 ...
Epidermolysis bullosa simplex with muscular dystrophy A rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized epidermolysis bullosa simplex , but also associated with adult ...
Emma Fogarty suffers from a rare genetic condition called epidermolysis bullosa (EB), also known as ‘butterfly skin’, which causes excruciating blisters from the slightest touch Image credits ...
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