Researchers from University of Groningen, Department of Dermatology discuss findings in epidermolysis bullosa immunology
2007 JUN 4 -- New research, "Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands," is the subject of a report. "Mutations in the gene COL17A1 coding for type XVII collagen cause non-Herlitz junctional epidermolysis bullosa (nH-JEB). Here we give an overview of the genotype-phenotype correlation in 12 patients from the Netherlands with type XVII collagen-deficient nH-JEB. PATIENT AND MATERIALSXXXMETHODS] Family and personal history and clinical presentation were recorded from each patient, and skin biopsies of intact and bullous skin were taken for immunofluorescence and electron microscopy," scientists writing in the British Journal of Dermatology report. "The mutations were identified by analysing the patient's DNA isolated from peripheral blood cells. DNA analysis identified five novel deletions: 1284delA, 1365delC, 3236delT, 3600-3601delCT and 4425delT. Interestingly, we identified a new patient, homozygous for 4425delT, with an exceptionally mild blistering phenotype. All together, three patients had more localized blistering confined to hands, lower legs and face, absent or very mild nail dystrophy, normal primary hair and sparse secondary hair. Nine patients had generalized blistering, nail dystrophy, sparse primary and absent secondary hair. All 12 patients had amelogenesis imperfecta (enamel pitting). Immunofluorescence (IF) antigen mapping with monoclonal antibodies 1A8C and 1D1 that bind to type XVII collagen, but not to its 97-kDa fragment was completely negative in patients with generalized blistering, whereas reduced in patients with localized blistering. Our data reveal that in patients with COL17A1 mutations a localized nH-JEB phenotype can be differentiated from a generalized nH-JEB phenotype by IF antigen mapping," wrote A.M. Pasmooij and colleagues, University of Groningen, Department of Dermatology. The researchers concluded: "The data are important for genetic counselling at early age when the clinical phenotype is not yet clear." Pasmooij and colleagues published their study in British Journal of Dermatology (Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands. British Journal of Dermatology, 2007;156(5):861-70). Additional information can be obtained by contacting A.M. Pasmooij, University of Groningen, University Medical Centre Groningen, Dept. of Dermatology, University Medical Centre Groningen, Hanzeplein-1, Groningen, Netherlands. The publisher of the British Journal of Dermatology can be contacted at: Blackwell Publishing Ltd., 9600 Garsington Rd., Oxford OX4 2DG, Oxon, England. Keywords: Netherlands, Groningen, Epidermolysis Bullosa Immunology, DNA, Dermatology, Epidermolysis Bullosa, Immunology. This article was prepared by Proteomics Weekly editors from staff and other reports. Copyright 2007, Proteomics Weekly via NewsRx.com.
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