Abstract
Netherton syndrome (NS) is characterized by ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. It is also considered a probable primary immunodeficiency as many patients have shown increased tendency for infections and abnormal levels of various immunoglobulins. Primary defect in NS is mutation in SPINK5 (serine protease inhibitor Kazal-type 5) gene which leads to the defective expression and function of lymphoepithelial Kazal-type-related inhibitor. We describe a case of a 7-year-old male born out of first-degree consanguineous marriage with findings of novel mutation, noninvolvement of the hair shaft, and unusual histopathology.
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