A case of netherton syndrome with novel mutation in SPINK5 gene expressing incomplete phenotype

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.

Keywords

• netherton syndrome
• novel mutation
• phenotype
• spink5 gene