Open AccessNetherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI
Author(s) -
Xibao Zhang,
Sanquan Zhang,
Yan He,
Yi Luo,
Quan Luo,
Changxing Li
Publication year - 2012
Publication title -
indian journal of dermatology/indian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.395
H-Index - 36
eISSN - 1998-3611
pISSN - 0019-5154
DOI - 10.4103/0019-5154.97660
Subject(s) - gene mutation , medicine , exon , microbiology and biotechnology , mutation , biology , immunology , gene , genetics
Netherton syndrome (NS) is a severe autosomal recessive ichthyosis. It is characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata, ichthyosis linearis circumflexa, atopic diathesis, and frequent bacterial infections. The disease is caused by mutations in the SPINK5 (serine protease inhibitor Kazal-type 5) gene, a new type of serine protease inhibitor involved in the regulation of skin barrier formation and immunity. We report one Chinese adult with NS. The patient had typical manifestation of NS except for trichorrhexis invaginata with an atopic diathesis and recurrent staphylococcal infections since birth.