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Recent advances in hereditary epidermolysis bullosa : A review of literature

Thesis

Last updated: 06 Feb 2023

Subjects

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Tags

Dermatology, Andrology and STDs

Advisors

El-Battawi, Muhammad M., Radhwan, Naglaa N., Subhi, Rehab M.

Authors

Ahmad, Sherin Adel

Accessioned

2017-03-30 06:23:23

Available

2017-03-30 06:23:23

type

M.Sc. Thesis

Abstract

Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma, with varying degrees of severity. The dermal-epidermal junction of the skin is a vital area of attachment. Any defects in this junction would lead to fragility of the skin. EB is traditionally classified into three major categories: EB simplex, junctional EB, and dystrophic EB. In addition, a new category termed hemidesmosomal EB is described. There are different classification schemes for EB. The different forms of EB have been linked to mutations in no less than ten genes encoding the major basement membrane zone proteins. EB can be diagnosed both postnatally and prenatally with the recent advances in molecular diagnosis. Current treatment of EB revolves around supportive care and prevention of complications. Potential future therapies for EB include protein and gene therapies.

Issued

1 Jan 2006

Details

Type

Thesis

Created At

28 Jan 2023