Van Lohuizen Syndrome

📋Overview

Van Lohuizen Syndrome, medically referred to as cutis marmorata telangiectatica congenita, is a rare skin disorder present at birth that involves permanently dilated superficial blood vessels. This condition typically presents as a marbled or net-like pattern on the skin, often appearing blue or purple in hue.

While the exact cause remains under investigation, the condition is generally considered a vascular malformation that may occur sporadically. Clinical observation often reveals that the skin patterns are more pronounced in cold environments but do not disappear with rewarming, distinguishing it from physiological skin mottling.