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Update on Genetic Conditions Affecting the Skin and the Kidneys

Antonia Reimer1,2, Yinghong He1, Cristina Has1

  • 1Department of Dermatology, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.

Frontiers in Pediatrics
|March 20, 2018
PubMed

Insights

Genetic skin and kidney disorders are diverse, involving cell adhesion, metabolic, and signaling pathways. Recent research clarifies their genetic basis and molecular mechanisms, offering new therapeutic insights.

Area of Science:

  • Genetics
  • Dermatology
  • Nephrology
  • Molecular Biology

Background:

  • Skin and kidney genetic disorders exhibit significant clinical and genetic heterogeneity.
  • These conditions frequently involve shared molecular targets within both organs.
  • Pathologies include defects in cell-matrix adhesion, metabolic and signaling pathways, and tumor suppressor genes.

Purpose of the Study:

  • To provide a clinically focused review of genetic disorders affecting the skin and kidney.
  • To highlight recently identified entities within this group.
  • To discuss advancements in understanding established genetic skin and kidney disorders.

Main Methods:

  • Review of clinical presentations and genetic bases of skin and kidney disorders.
  • Analysis of molecular cell biology mechanisms underlying these conditions.
  • Synthesis of current knowledge on therapeutic applications.

Main Results:

  • Detailed overview of clinically relevant genetic skin and kidney disorders.
  • Emphasis on recently described genetic conditions.
  • Explanation of molecular pathologies including cell-matrix adhesion, metabolic/signaling pathways, and tumor suppressor gene defects.

Conclusions:

  • Genetic disorders affecting skin and kidney are complex and heterogeneous.
  • Understanding molecular mechanisms is crucial for diagnosis and treatment.
  • Progress in genetics and molecular biology is driving therapeutic advancements.
Keywords:
RASopathyepidermolysis bullosagenodermatosiskidneymosaicismmutationnevusrenal anomaly

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