Hereditary Epidermolysis Bullosa in Saudi Arabia, Epidemiological, Pathological, Ultrastructural Study of Fourteen Patients
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2015, Vol 8, Issue 3
Abstract
Hereditary epidermolysis bullosa (EB) constitutes a genodermatosis group with variable clinical severity. Three main types were identified according to electron microscopy study as follows: simple, junctional, and dystrophic type. Recent discoveries of the molecular basis of epidermolysis bullosa have resulted in the development of new diagnostic tools, including prenatal and preimplantation testing. This classification is important as it will affect patient management and prognosis. Based on a better understanding of the basement membrane zone (BMZ) and the genes responsible for its components, new treatments (eg, gene or protein therapy) may provide solutions to the skin fragility found in patients with epidermolysis bullosa. Biopsies diagnosed as EB in the last 4 years, were retrieved from the database of the king Khalid University Hospital and Military Hospital lab at Saudi Arabia. The aim of the present study was to assess epidemiological, clinical, histological, and ultrastructural features of patients with hereditary epidermolysis bullosa in Saudi patients. Fourteen cases were studied. Male/female ratio was 1:1. There were seven junctional, four epidermolytic and three dystrophic types EB. Electron microscopy study remains the gold standard method for subclassification of epidermolysis bullosa. Dystrophic and junctional types appear to be more severe forms than epidermolytic one.
Authors and Affiliations
Ahmed Abdullah Alhumidi
Keywords
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- EP ID EP347618
- DOI 10.9734/BJMMR/2015/16869
- Views 38
- Downloads 0
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