Korean J Dermatol.
2005 Mar;43(3):379-382.
Netherton Syndrome in Two Sisters
- Affiliations
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- 1Department of Dermatology, College of Medicine, Ewha Womans University, Korea.
- 2Department of Dermatology, College of Medicine, Dankuk University, Seoul, Korea.
Abstract
- Netherton Syndrome is a rare autosomal recessive inherited disorder, characterized by triad of congenital ichthyosiform dermatosis, trichorrhexis invaginata and atopy diathesis. It has been found to be due to mutations in SPINK5, a gene encoding LEKTI (lympho-epithelial Kazal-type related inhibitor). LEKTI is a serine proteinase inhibitor that is expressed in epithelial and lymphoid tissues, and may be important in the keratinocyte terminal differentiation and T and B cell maturation. We herein report two cases of Netherton Syndrome in sisters who had ichthyosis linearis circumflexa, trichorrhexis invaginata and atropic dermatitis.
