View : 5 Download: 0

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
명기범scopusscopus; 최혜영scopus
Issue Date
2005
Journal Title
Korean Journal of Dermatology
ISSN
0494-4739JCR Link
Citation
vol. 43, no. 3, pp. 379 - 382
Indexed
SCOPUS; KCI scopus
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.
Appears in Collections:
의과대학 > 의학과 > Journal papers
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE