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Dermatology

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Genodermatoses

Question
3 out of 14
 

A child presents with recurrent episodes of lip edema and laryngeal edema and abdominal pain associated with stress. Levels of which of the following are reduced?



A C1 esterase inhibitor
B C5a

C C3
D C9

Ans. A
C1 esterase inhibitor Ref: Harrison, 18th edition, page 2067

Quincke’s angioedema. (Hereditary). it is stress induced ,non itchy and it’s because of deficiency of C1 esterase

DOC Danazol

Causes of Angioedema

1). Allergy,

2). Drugs : ACE inhibitors.

3). There are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor(type I HAE) and the F12 gene, which controls Factor XII (type III HAE).

4). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE).

5). All three forms are called hereditary angioedema(HAE) by the term "hereditary angioneurotic edema" (HANE).

6). In all forms of HAE, swelling may also occur in the digestive tract and other organs.

7). It is life-threatening when it involves the larynxdue to the potential for asphyxiation

Genodermatoses Flashcard List

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