SERPING1 mutation in a rare hereditary angioedema with skin blisters

Hereditary Angioedema (HAE) is a rare, autosomal dominant disease characterized clinically by recurrent episodes of edema that may affect the skin and internal organs. The pathophysiological background of HAE is primarily an increased vascular permeability reaction to a local overproduction of bradykinin1. The most frequent dermatological manifestation is angioedema, which may occur on any part of the body and erythema marginatum is sometimes seen as symptomatic of the onset of an attack. The formation of blisters, described by some authors2-5, is an infrequent cutaneous manifestation of HAE.

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