Netherton syndrome (NS) (OMIM no. 256500) is a rare autosomal recessive disorder. It may manifest at birth with the classic triad of congenital ichthyosis, hair shaft abnormalities, and atopic diathesis.… Click to show full abstract
Netherton syndrome (NS) (OMIM no. 256500) is a rare autosomal recessive disorder. It may manifest at birth with the classic triad of congenital ichthyosis, hair shaft abnormalities, and atopic diathesis. Netherton syndrome is caused by mutations in serine protease inhibitor Kazal-type 5 (SPINK5) gene, which encodes the serine protease inhibitor lymphoepithelial Kazaltype-related inhibitor (LEKTI). The latter is extremely important for maintaining epidermal barrier integrity. Israeli et al. described the spectrum of SPINK5 mutations in the Israeli population: mutations were found in exons 8, 9, 23, and 27 of SPINK5. We report a case of NS associated with intestinal atresia, a novel mutation in SPINK5, and a fatal course.
               
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