Epidermolysis bullosa simplex

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Epidermolysis bullosa (EB) is a group of rare hereditary disorder. This disease will result in increased skin fragility and blister formation caused by little or no apparent trauma[1]. There are three major types of epidermolysis bullosa which include:

  1. EB simplex (EBS)
  2. Junctional EB (JEB) and
  3. Dystrophic EB (DEB).

These groups are categorized based on the level at which the skin breaks down[2]. On the other hand, Epidermolysis bullosa simplex (EBS) is mainly classified into three types:

  1. EBS Weber-Cockayne
  2. EBS Kobner and
  3. EBS Dowling-Meara[3].

Basically, most cases are caused by the mutations in either the keratin 5 (KRT 5) or keratin 14 (KRT 14). The type I and type II intermediate filament is actually responsible in the formation of a pancytoplasmic network of 10nm filaments in basal keratinocytes of the epidermis and epithelia. However, the basal keratinocytes might tend to become fragile due to the mutation in KRT5 or KRT14 which will then account for their trauma-induced rupture thus causes the disease[4].

References

  1. Chacham S, Nagasravani J, Reddy UN, Rao JN, Rao SP, Kumar AS. Epidermolysis bullosa in a small for gestational age preterm male neonate with two affected siblings: A case report. International Journal of Case Reports and Images (IJCRI). 2004;5:691–694
  2. Lettinga A, Duipmans J, Maathuis C and Jonkman. Main Problems Experienced by Children with Epidermolysis Bullosa: a Qualitative Study with Semi-structured Interviews. Acta Dermato-Venereologica. 2008;88:143-150.
  3. Yordanova I. Epidermolysis Bullosa Simplex Dowling-Meara - A case report. Journal of IMAB - Annual Proceeding (Scientific Papers). 2008;14:59-62.
  4. Coulombe P, Kerns M. and Fuchs E. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. Journal of Clinical Investigation.2009;119:1784-1793.
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