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Genetic Kidney Diseases of Childhood

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Front. Pediatr. | doi: 10.3389/fped.2018.00043

Update on genetic conditions affecting the skin and the kidneys

 Antonia Reimer1, Yinghong He1 and  Cristina Has1*
  • 1Dermatology, Albert Ludwigs Universität Freiburg, Germany

Genetic conditions affecting the skin and kidney are clinically and genetically heterogeneous, and target molecular components present in both organs. The molecular pathology involves defects of cell-matrix adhesion, metabolic or signaling pathways, as well as tumor suppressor genes. This article gives a clinically oriented overview of this group of disorders, highlighting entities which have been recently described, as well as the progress made in understanding well-known entities. The genetic bases, as well as molecular cell biological mechanisms are described, with therapeutic applications.

Keywords: Epidermolysis Bullosa, Mosaicism, Genodermatosis, Kidney, Mutation, Rasopathy, Nevus, Renal anomaly

Received: 26 Oct 2017; Accepted: 14 Feb 2018.

Edited by:

Miriam Schmidts, Radboud University Nijmegen, Netherlands

Reviewed by:

Katja Höpker, University Hospital Cologne, Germany
Roman-Ulrich Mueller, University Hospital Cologne, Germany  

Copyright: © 2018 Reimer, He and Has. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Prof. Cristina Has, Albert Ludwigs Universität Freiburg, Dermatology, Hauptstr. 7, Freiburg, 79104, Germany, cristina.has@uniklinik-freiburg.de