Epidermolysis bullosa, wound management and new therapeutic approaches

  • Špela Zemljič-Jokhadar Institute of Biophysics, Faculty of medicine, University of Ljubljana, Ljubljana, Slovenia
  • Vlasta Dragoš Department of Dermatovenereology, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Mirjana Liovic Medical Center for Molecular Biology, Faculty of medicine, University of Ljubljana, Ljubljana, Slovenia
Keywords: ebs, EBS, gene, protein, cell, systemic

Abstract

Epidermolysis bullosa is a hereditary skin fragility disorder, which is linked to mutations in 18 genes that are expressed in the skin. Today we distinguish 4 main EB types, which include about 30 different disease subtypes with a variety of clinical simptoms. The main types are classified according to the skin layer that is affected: EB simplex linked to the epidermis; junctional EB linked to the basal membrane, and dystrophic EB linked to the dermis. Kindler syndrome is the fourth and very rare type of EB. In all cases, the patient’s skin is very fragile, so the basic clinical symptoms are skin blisters and wounds that heal with difficulty. EB affects patients both physically and psychologically, and the chronic inflammation accompanying the disease often leads to aggressive forms of squamous cell carcinoma. This is a group of rare genetic diseases with an incidence of 1:40000. In Slovenia there are 60 patients with EB. Hereby we present the current standard of care of patients with this still incurable disorder, as well as the newest experimental methodologies aiming at the development of possible genetic, regenerative and pharmacological treatments of EB.

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Published
2020-03-10
How to Cite
1.
Zemljič-Jokhadar Špela, Dragoš V, Liovic M. Epidermolysis bullosa, wound management and new therapeutic approaches. ZdravVestn [Internet]. 10Mar.2020 [cited 6Apr.2020];89(1-2):107-1. Available from: https://vestnik.szd.si/index.php/ZdravVest/article/view/2937
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Professional Article