Netherton Syndrome in Two Sisters.
- Author:
So Young KIM
1
;
Myung Hwa KIM
;
Hae Young CHOI
;
Ki Bum MYUNG
Author Information
1. Department of Dermatology, College of Medicine, Ewha Womans University, Korea.
- Publication Type:Case Report
- Keywords:
Netherton Syndrome;
SPINK5;
LEKTI;
Trichorrhexis invaginata
- MeSH:
Dermatitis;
Disease Susceptibility;
Genes, vif;
Humans;
Ichthyosis;
Keratinocytes;
Lymphoid Tissue;
Netherton Syndrome*;
Serine Proteases;
Siblings*;
Skin Diseases
- From:Korean Journal of Dermatology
2005;43(3):379-382
- CountryRepublic of Korea
- Language:Korean
-
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.
