LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.

Article


Ong, C., O'Toole, E., Ghali, L., Malone, M., Smith, V., Callard, R. and Harper, J. 2004. LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome. British journal of dermatology. 151 (6), pp. 1253-1257. https://doi.org/10.1111/j.1365-2133.2004.06180.x
TypeArticle
TitleLEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.
AuthorsOng, C., O'Toole, E., Ghali, L., Malone, M., Smith, V., Callard, R. and Harper, J.
Abstract

Background Netherton syndrome (NS) is a rare autosomal recessive condition characterized by ichthyosiform erythroderma, trichorrhexis invaginata and atopic manifestations. Confirming the diagnosis may be difficult in the early stages. Mutations in the SPINK5 gene which encodes for the serine protease inhibitor LEKTI are associated with NS. These mutations create premature termination codons which result in absent or abnormal expression of LEKTI in patients with NS.
Objectives To investigate the expression of LEKTI in the skin of patients with NS in comparison with normal controls and patients with other skin conditions, namely atopic dermatitis, psoriasis and nonbullous ichthyosiform erythroderma.
Methods Immunohistochemistry was performed on skin sections from four patients with NS, four normal controls, four with atopic dermatitis, two with psoriasis and two with nonbullous ichthyosiform erythroderma, using a primary rabbit polyclonal antibody against LEKTI.
Results LEKTI was localized to the stratum granulosum in normal skin. All four skin sections from patients with NS showed absent or very reduced staining for LEKTI. Staining in the other disorders showed positive LEKTI expression in varying patterns.
Conclusions NS can be difficult to diagnose especially in the early stage, which can lead to inappropriate treatments particularly if it is misdiagnosed as atopic dermatitis. Immunohistochemistry of skin with an antibody against LEKTI is a potentially useful diagnostic test for NS.

Research GroupBiomarkers for Cancer group
PublisherBlackwell
JournalBritish journal of dermatology
ISSN0007-0963
Publication dates
PrintDec 2004
Publication process dates
Deposited19 Jun 2009
Output statusPublished
Additional information

PubMed PMID: 15606522.

Digital Object Identifier (DOI)https://doi.org/10.1111/j.1365-2133.2004.06180.x
LanguageEnglish
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