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Netherton Syndrome in two sisters

Title
Netherton Syndrome in two sisters
Authors
So Y.K.Myung H.K.Hae Y.C.Ki B.M.
Ewha Authors
명기범최혜영
SCOPUS Author ID
명기범scopus; 최혜영scopus
Issue Date
2005
Journal Title
Korean Journal of Dermatology
ISSN
0494-4739JCR Link
Citation
Korean Journal of Dermatology vol. 43, no. 3, pp. 379 - 382
Indexed
SCOPUS; KCI scopus
Document Type
Article
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.
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의과대학 > 의학과 > Journal papers
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