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11 sty 2024 · In epidermolysis bullosa, defective and deficient proteins arising from inherited or de novo genetic mutations result in dermo-epidermal junction malfunction. The phenotypic severity is often proportional to the degree of protein deficiency; therefore, relatively small quantities of functional protein reduce phenotypic severity as compared to ...
9 sie 2019 · Flowchart of laboratory diagnosis of epidermolysis bullosa (EB). Schematic representation of the steps required to achieve a molecular diagnosis of EB. Steps shown in green lead to a clear diagnosis of the EB type or subtype, while steps shown in red may require individualized strategies in a research setting.
10 Results of the EB laboratory diagnosis should be communicated to the patient and family, preferably by geneticists and dermatologists with experience in the field, and according to national rules and regulations.
1 mar 2020 · Genetic testing for epidermolysis bullosa. The pathogenic sequence variants will provide clarity for the definitive diagnosis, prognosis and inheritance for the patient with EB and their family, and their identification is therefore essential.
2 sie 2024 · Epidermolysis bullosa (EB) comprises rare genetic disorders characterized by skin and mucosal membrane blistering induced by mechanical trauma. Molecularly, pathogenic variants affect genes encoding proteins crucial for epidermal–dermal adhesion and stability.
1 mar 2020 · Epidermolysis bullosa (EB) is a group of rare inherited disorders in which the skin is more fragile than usual, and outside forces like minor injury or rubbing cause blisters or ulcers that may be slow to heal and often leave scars. EB comprises four main types, with more than 30 subtypes.
Classification and molecular characteristics of epidermolysis bullosa (EB) including genes, proteins and types of pathogenic sequence variants: EB simplex (EBS) Gene. Level of skin cleavage and ultrastructural anomalies as assessed by TEM. Relative protein expression as assessed by IFM. Types of pathogenic sequence variants a.
