Netherton’s Syndrome

Definition

Netherton’s syndrome is a severe, genetic skin disease with similarities to atopic dermatitis. The syndrome is characterized by chronic skin inflammation, severe dehydration, and growth retardation together with universal pruritus. Netherton’s syndrome shows an autosomal recessive pattern of inheritance. Recently, the genetic basis has been delineated. The cause of the disease is a mutation in the SPINK5 gene. This gene encodes a serine protease inhibitor LEKTI. LEKTI is dysfunctional in these patients and results in a reduced inhibition of many serine proteases expressed in the skin. These proteases are involved in many aspects of skin homeostasis including lipid hydrolysis, desquamation, and remodeling. The disease severity is, therefore, determined by the level of LEKTI expression and is ranging from a complete absence of serine protease activities to milder forms.

The lesions are very susceptible to infection and the development of allergies. Therefore, the mortality...