Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or 14. Blister formation of EBS is within the basal keratinocyte of the epidermis. Sometimes EBS is called epidermolytic. There are four subtypes of EBS: The keratinocyte is the major cell type of the epidermis, making up about 90% of epidermal cells. ...
Weber-cockayne is the mildest form of EBS, leading to blistering of the hands and feet since these are most susceptible to frequent abrasion.
Koebner epidermolysis bullosa simplex
Koebner results in generalised blisters.
Dowling-Meara epidermolysis bullosa simplex
Dowling-Meara (EBS-DM) is the most severe form of EBS, leading to clusteres of blisters and spherical keratin aggregates. It results from a missense mutation in KRT5 (E477K) or one of two missense mutations in KRT14 (R125C and R125H) Missense mutations or nonsynonymous mutations are types of point mutations where a nucleotide is changed which results in a different amino acid. ... The human keratin 5 gene (KRT5) is a gene of 2301 base pairs (in the mRNA) that encodes proteins. ... The human keratin 14 gene (KRT14) is a gene of 1634 base pairs (in the mRNA) that encodes proteins. ...
Mottled pigmentation (EBS-MP) is caused by one missense mutation in KRT5 (I161S) or by missense mutations in the plectin gene. Missense mutations or nonsynonymous mutations are types of point mutations where a nucleotide is changed which results in a different amino acid. ... The human keratin 5 gene (KRT5) is a gene of 2301 base pairs (in the mRNA) that encodes proteins. ...
Feeds |
Contact