Update on Genetic Conditions Affecting the Skin and the Kidneys

Frontiers in Pediatrics

Antonia Reimer¹ 

关键词: epidermolysis bullosa;    mosaicism;    genodermatosis;    kidney;    mutation;    RASopathy;    nevus;    renal anomaly;   

DOI  :  10.3389/fped.2018.00043

学科分类：儿科学

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY