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

Summary 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 seri...

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Bibliographic Details
Published in:British journal of dermatology (1951) 2004-12, Vol.151 (6), p.1253-1257
Main Authors: Ong, C., O'Toole, E.A., Ghali, L., Malone, M., Smith, V.V., Callard, R., Harper, J.I.
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Carrier Proteins - genetics
Carrier Proteins - metabolism
Child
Child, Preschool
Dermatitis, Atopic - diagnosis
Dermatitis, Atopic - metabolism
Dermatology
Diagnosis, Differential
Dyskeratosis
Hair - abnormalities
Humans
Hypersensitivity - genetics
Hypersensitivity - metabolism
Ichthyosiform Erythroderma, Congenital - diagnosis
Ichthyosiform Erythroderma, Congenital - genetics
Ichthyosiform Erythroderma, Congenital - metabolism
Ichthyosis, Lamellar - diagnosis
Ichthyosis, Lamellar - metabolism
Immunoenzyme Techniques
LEKTI
Medical sciences
Netherton syndrome
Proteinase Inhibitory Proteins, Secretory
Psoriasis - diagnosis
Psoriasis - metabolism
Serine Peptidase Inhibitor Kazal-Type 5
Serine Proteinase Inhibitors - metabolism
Skin - metabolism
Syndrome
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Summary:Summary 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.
ISSN:0007-0963
1365-2133
DOI:10.1111/j.1365-2133.2004.06180.x