Successful treatment of Netherton syndrome with ustekinumab in a 15-year-old girl.

Successful treatment of Netherton syndrome with ustekinumab in a 15-year-old girl.
Br J Dermatol. 2020 Jan 24;:
Authors: Volc S, Maier L, Gritsch A, Aichelburg MC, Volc-Platzer B
Abstract
Netherton syndrome (NS) is a rare autosomal recessive ichthyosis syndrome, which manifests at birth or shortly thereafter, and is characterized by erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata, immunodeficiency, failure to thrive and high serum IgE level.1 Approximately 80 different mutations in exonic and intronic regions of the SPINK5 gene have been reported, resulting in deficiency of lymphoepithelial Kazal type inhibitor (LEKTI), a serine protease inhibitor in epithelia, thymus, tonsils, parathyroid glands and trachea. Treatment of NS has always been challenging2 , but evidence is accumulating that i) an IL17-dominant inflammatory response is found in orphan ichthyoses3 and ii) that the inflammation may be targeted efficiently by anti-TNF and anti-IL12/23 antibodies.
PMID: 31977080 [PubMed - as supplied by publisher]

Source: The British Journal of Dermatology - January 23, 2020 Category: Dermatology Authors: Volc S, Maier L, Gritsch A, Aichelburg MC, Volc-Platzer B Tags: Br J Dermatol Source Type: research