Two novel variants of <i>SPINK5</i> mutations in a boy with ichthyosis linearis circumflexa and atopy

Netherton syndrome, including ichthyosis linearis circumflexa (ILC), is a very rare autosomal recessive disorder resulting from mutations in SPINK5, which encodes serine protease inhibitor Kazal-type 5 (SPINK5) [also known as lymphoepithelial Kazal-type-related inhibitor (LEKTI)]. Here, we report on a boy presenting with ILC and atopy but notably lacking hair shaft abnormalities, associated with novel frameshift variants in SPINK5.