PubMed · 4486732
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V A Bowman. 1973-03-02. Nursing care study; Danny.. https://pubmed.ncbi.nlm.nih.gov/4486732/
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During the past two years the application of newer strategies of molecular genetics has resulted in the identification of genes whose mutations underlie five diseases of the skin. This is likely to be but the start of an unprecedented expansion in our understanding of these disorders and, most likely, of our ability to treat them.
Cases of epidermolysis bullosa (EB) diagnosed in Northern Ireland during a 23-year period (1962-84) were identified from dermatology clinic files, paediatric hospital notes and cases known by general practitioners. A total of 48 confirmed new cases of EB were diagnosed during the screening period. This involved 31 families, with identification of 36 further cases. The distribution of incident EB subtypes was: simplex 31 (65%), junctional 1 (2%), dystrophic 12 (25%) and acquisita 4 (8%). The incidence rate of new cases of EB diagnosed per year is 1.4/million and prevalence of all forms estimated at 32/million. The prevalence of simplex, junctional and dystrophic forms is 28, 0.7 and 3/million, respectively.