AUTHOR=Reimer Antonia , He Yinghong , Has Cristina 

TITLE=Update on Genetic Conditions Affecting the Skin and the Kidneys

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 6 - 2018

YEAR=2018

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2018.00043

DOI=10.3389/fped.2018.00043

ISSN=2296-2360

ABSTRACT=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.