In this overview, genetic conditions affecting the skin and the kidneys are divided into three main groups: The spectrum of skin anomalies is wide including pigmentation anomalies, skin dryness and ichthyosis, vascular anomalies (e.g., nevi flammei and hemangiomas), benign and malign skin tumors, abnormal hair, and nail dystrophy. Renal anomalies include congenital abnormalities of the kidney and urinary tract (CAKUT) (e.g., renal hypoplasia or aplasia, horseshoe deformations, anomalies of the urine collection system), malfunctioning of glomerular filtration, and the predisposition for tumors. Many of these disorders are recognizable at birth or early childhood. In some syndromes, cutaneous and renal involvements are among the striking, pathognomonic features. Second, various molecules involved in adhesion (e.g., integrin α3, CD151), cholesterol biosynthesis (e.g., NSDHL), or signaling pathways are highly relevant for the development, structure, and function of both organs.

First, skin and kidney share a common embryological background represented by mesoderm for dermal connective tissue and kidneys. There are two major reasons for this concomitant occurrence of clinical manifestations. Anomalies of both skin and kidney occur in a vast number of genetic conditions.

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