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H. Schumann, D. Kiritsi, M. Pigors, I. Hausser, J. Kohlhase, J. Peters, H. Ott, L. Hyla-Klekot, E. Gacka, A.L. Sieron, M. Valari, L. Bruckner-Tuderman and C. Has Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations British Journal of Dermatology 169

Version of Record online: 8 JUL 2013 | DOI: 10.1111/bjd.12317

What's already known about this topic?

  • Epidermolysis bullosa (EB) with pyloric atresia (PA) is a rare EB type caused by mutations in the genes coding for α6β4 integrin or plectin, disrupting the hemidesmosome adhesion complex.
  • A reduced life expectancy is predicted in most cases of EB with PA.
  • α6β4 integrin gene mutations are not always associated with PA.

What does this study add?

  • This study identifies 10 novel ITGB4 and ITGA6 mutations causing a spectrum of phenotypes, ranging from mild skin blistering to a lethal multisystem disorder with skin, urinary and gastrointestinal involvement.
  • Urinary tract involvement is relatively common (five out of eight cases in this study).
  • Low levels of α6β4 integrin are sufficient for hemidesmosomal integrity and are associated with a mild skin phenotype.

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