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Renal-skin syndromes

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Abstract

Renal-skin syndroms are a group of genetic disorders with renal and cutaneous manifestations that target molecular components present in both organs. Inherited renal-skin syndromes are mainly associated with defects of cell-matrix adhesion. We provide a non-exhaustive overview of the main molecular players at cell-matrix adhesions in mouse models and in human genetic disorders affecting kidney and skin. Renal and urinary tract involvement is described in all four major epidermolysis bullosa types and, in particular, in junctional subtypes and in recessive dystrophic epidermolysis bullosa. Here, we describe in detail those subtypes for which reno-urinary involvement is a constant and primary feature. Furthermore, complex multiorgan disorders with a predisposition to malignancies or attributable to metabolic defects that involve both kidney and skin are briefly summarized.

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Abbreviations

ADAM:

A disintegrin and metalloproteinase

BM:

Basement membrane

IAC:

Integrin adhesion complexes

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Acknowledgements

We thank Juna Leppert for expert technical support, Dr. O. Kretz and Dr. Ingrid Hausser for electron micrographs and Dr. Florian Grahammer for providing tissue samples. The work of the authors is supported by the Else-Kröner Fresenius Foundation and by the Deutsche Forschungsgemeinschaft (DFG) CRC/SFB 1140.

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  1. Department of Dermatology, University Medical Center Freiburg, Hauptstrasse 7, 79104, Freiburg, Germany

    Cristina Has & Yinghong He

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  1. Cristina Has
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Correspondence to Cristina Has.

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Has, C., He, Y. Renal-skin syndromes. Cell Tissue Res 369, 63–73 (2017). https://doi.org/10.1007/s00441-017-2623-y

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