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Netherton syndrome

What are the causes?

The cause of the skin and hair abnormalities is associated with the lack of a specific protein called LEKTI (lympho-epithelial kazal type related inhibitor), which is a serine protease inhibitor. The absence of this protein leads to a profound defect in the outermost part of the skin, "the skin barrier".

View What are the symptoms? What are the symptoms?  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text written October 2004 by Contact a Family. Approved October 2004 by Professor J Harper, Consultant in Paediatric Dermatology, Great Ormond Street Hospital, London, UK.

 

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