Abstract
Acantholytic EB is a very rare subtype of suprabasal EB characterised by congenital widespread skin erosions and severe skin barrier dysfunction due to acantholysis, leading to early demise. The molecular pathomechanism involves either loss, reduced number or severe disruption of desmosomal integrity and function, due to loss-of-function mutations in the genes for the desmosomal proteins desmoplakin or plakoglobin. The acantholytic EB phenotypes caused by DSP and JUP mutations are comparable but demonstrate some differences, regarding the presence of mucosal and nail involvement, and malformations. It remains questionable whether cardiac dysfunction, which is a prominent component of the phenotype of the plakoglobin knock-out mouse, is a feature of the human disease.
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Abbreviations
- DSP:
-
Gene for desmoplakin
- EB:
-
Epidermolysis bullosa
- JUP:
-
Gene for plakoglobin
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Acknowledgements
The authors are grateful to Dr. Ingrid Hausser, Department of Dermatology Heidelberg, for providing electron microscopy pictures and Dr. Nicola Wagner for clinical pictures.
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Has, C., Kiritsi, D., Jonkman, M.F. (2015). Acantholytic Forms of Epidermolysis Bullosa. In: Murrell, D. (eds) Blistering Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45698-9_28
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DOI: https://doi.org/10.1007/978-3-662-45698-9_28
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