John Libbey Eurotext

European Journal of Dermatology


A case of Netherton syndrome with mutation in SPINK5 and FLG Volume 27, issue 5, September-October 2017


  • Figure 1
Department of Dermatology,
Sun Yat-sen Memorial Hospital,
Sun Yat-sen University,
Guangzhou 510120, China

Netherton syndrome (NS; MIM 256500) is a rare autosomal recessive genodermatosis characterized by ichthyosis linearis circumflexa (ILC), bamboo hair (trichorrhexis invaginata), and atopic diathesis with high serum levels of IgE. Previous studies have identified that mutations in the gene SPINK5 (serine protease inhibitor, Kazal type-5), encoding an inhibitor of serine proteases known as LEKTI, cause NS [1]. We herein report a woman with NS, carrying mutations in both SPINK5 and filaggrin (FLG) genes.The [...]