Categorizing immunofluorescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator |
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| Authors: | John W Frew Patricia J Dopping‐Hepenstal John A McGrath |
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| Affiliation: | 1. University of New South Wales, Sydney, New South Wales, Australia;2. St John's Institute of Dermatology, King's College London (Guy's campus), London, UK;3. The National Diagnostic Epidermolysis Bullosa Laboratory, The Guy's and St Thomas' NHS Foundation Trust and |
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| Abstract: | Epidermolysis bullosa with pyloric atresia is a form of junctional epidermolysis bullosa associated with gastrointestinal abnormalities, which may include pyloric atresia. Genotype phenotype correlation is poorly understood and prognosis is difficult, if not impossible, to predict. Immunofluorescence mapping is an ideal candidate for developing a broad prognostic indicator for epidermolysis bullosa with pyloric atresia without the need for genetic mutation analysis. However, the tool developed in this paper does have limitations due to the small number of cases available and the effects of deleterious mutations in highly conserved cysteine residues on the predicted length of survival. |
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| Keywords: | Epidermolysis Bullosa Immunofluorescence Mapping Prognosis Genodermatosis |
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