Netherton's syndrome is a rare autosomal recessive disorder caused by mutations 
of the SPINK5 gene, which encodes the lymphoepithelial Kazal-type-related 
inhibitor (LEKTI) protein. We observed microstructural changes and detected 
LEKTI activity and SPINK5 gene mutation in three Chinese patients with 
Netherton's syndrome. Decreased LEKTI activity was found in the skin of 
patients. Lamellar bodies and foci of electron-dense material were detected in 
the intercellular spaces of the stratum corneum. A novel homozygous splicing 
mutation of 1430+2 T-->G was found in the SPINK5 gene in one proband. No 
mutation was found in the other family.