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ePaper created 2014-09-15, 12:31:02 | version 1.32.01
Epidermolysis bullosa Research and management of the genetic bullous disorder epidermolysis bullosa is an important subject in the Groningen clinic. Marcel Jonkman saw his first patient in 1989 in the era that none of the genes of this devastating disease had been discovered. Now, eighteen genes are known to cause one of the more than 25 phenotypes. The Groningen clinic was reponsible for identifying two of these. In 1995 Jonkman discovered that bullous pemphigoid antigen-2 or type XVII collagen is deficient in non-Herlitz junctional epidermolysis bullosa, by that time known as generalized atrophic benign epidermolysis bullosa (GABEB).[1] In 2005 he delineated a new severe EB phenotype called lethal acantholytic epidermolysis bullosa and also demonstrated that the disease was caused by loss of desmoplakin tail.[2] And in 2011, type XVII collagen was found to be the cause of the late-onset subtype of junctional epidermo- lysis bullosa.[3] The multidisciplinary epidermolysis bullosa team in Groningen has been serving a large number of Dutch patients with epidermolysis bullosa since 1997. The long-term follow-up has resulted in import clinical observations.[4] References 1. Jonkman MF, de Jong MC, Heeres K, et al. 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest. 1995; 95: 1345-52. 2. Jonkman MF, Pasmooij AM, Pasmans SG, et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet. 2005; 77: 653-60. 3. Yuen WY, Pas HH, Sinke RJ, et al. Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1. Br J Dermatol. 2011; 164: 1280-4. 4. Yuen WY, Duipmans JC, Molenbuur B, et al. Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa. Br J Dermatol. 2012; 167: 374-82. Revertant mosaicism Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction of a pathogenic mutation in a somatic cell. In 1997 revertant mosaicism was discovered in skin for the first time by the Center for Blistering Diseases in Groningen.[1] A patient with the hereditary blistering disease epidermolysis bullosa (EB) had spontaneously healed skin areas without blister formation (i.e., revertant) where the deficient protein was re-expressed, whereas the surrounding skin was fragile. To find the underlying correction mechanism Jonkman spent three months in Prof. Jouni Uitto’s laboratory in Philadelphia to study DNA/RNA from keratinocytes cultured from the patient. 56 Epidermolysis bullosa dystrophica. BWEADVSMGFINCORR:Opmaak 1 21-07-2014 17:40 Pagina 56