Netherton syndrome

Netherton syndrome is an autosomal recessive skin disorder.

A mutation in the SPINK5 gene encoding the serine protease inhibitor LEKTI leads to hyperactivity of these proteolytic enzymes in the stratum corneum. This is rejected early and the barrier function of the skin is disturbed.

Likewise, the defective expression of the SPINK5 gene in the thymus leads to a defective T cell differentiation, a consecutive unbalanced Th2 response and a greatly increased IgE. Patients suffer from allergic hypersensitivity, trichorrhexis invaginata (bamboo hair) and congenital nonhyotic erythroderma.

Congenital ichthyotic erythroderma may develop into Ichtyosis linearis circumflexa if the disease progresses mildly.