Renal-skin syndromes

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.

Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes

“…To the best of our knowledge, eleven individuals with ITGA3 mutations are known so far . The clinical manifestations comprise the triad of early onset interstitial lung disease with respiratory distress, variable renal anomalies and skin fragility.…”

“…To the best of our knowledge, eleven individuals with ITGA3 mutations are known so far. [31] The clinical manifestations comprise F I G U R E 2 EB simplex with mutations in PLEC isoform 1a. A, Erosions, scars and prurigo papules on the lower legs.…”

Update on Genetic Conditions Affecting the Skin and the Kidneys

“…In patients with severe dystrophic EB due to absence of collagen VII various renal pathologies may occur and lead to chronic renal failure. Hydronephrosis, poststreptococcal glomerulonephritis, IgA mesangial disease, or renal amyloidosis has been reported in dystrophic EB case series ( 4 , 5 ). The mechanisms may include repetitive vesiculation within the lining epithelia of the urinary tract, and chronic systemic inflammation ( 6 ).…”

“…So far, 11 cases have been identified [reviewed in Ref. ( 5 ), and own unreported data], but the disease may be under recognized.…”

From genetics to personalized nephrology: kidney research at a tipping point

“…In their review article BRenal-skin syndromes^, Has and He (2017) provide a comprehensive overview highlighting this previously underrecognized disease group. Diseases shared by the skin and the kidney are related to defects in cellmatrix adhesion and the key molecular players at the shared sites and experimental models are introduced by these authors.…”