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Conflicts of interest: none declared.

Sir, Netherton syndrome (NS) is an autosomal recessive inherited disorder characterized by congenital ichthyosis, trichorrhexis invaginata, and features of atopic dermatitis (AD) with high serum IgE levels.1 The NS gene has been identified as SPINK5 (serine protease inhibitor Kazal‐type 5) encoding the serine protease inhibiter LEKTI (lympho‐epithelial Kazal‐type related inhibitor).2 Interleukin (IL)‐18 induces immune responses associated with Th2 cells,3 and is synthesized as a pro‐IL‐18, which is activated by caspase‐1.4 Caspase‐1 is an intracellular cysteine protease produced as a procaspase‐1 and activated by proteolytic cleavage.4 Caspase‐1 and IL‐18 may thus play critical roles in the development of AD. In this study, we determined serum IL‐18 levels and caspase‐1 activity in the stratum corneum (SC) in two siblings with NS, and examined the involvement of these factors in the development of AD.

A 29‐year‐old Japanese man (patient 1) and his younger sister, a 24‐year‐old woman (patient 2), presented with erythroderma and ichthyosis linearis circumflexa (Fig. 1) over their entire bodies, as well as trichorrhexis invaginata. The height of patient 1 was 163 cm and weight 58 kg. His total serum IgE level was 1503 U mL−1 (normal 12–310) and serum IL‐18 level 564 pg mL−1. Patient 2 had short stature (height 138 cm, weight 45 kg) and glaucoma. Her total serum IgE level was markedly elevated (47 200 U mL−1), and serum IL‐18 level was also increased (459 pg mL−1). Serum IgE and IL‐18 levels were measured by UniCAP® total IgE assay (Phadia AB, Uppsala, Sweden) and enzyme immunoassay (BML Inc., Tokyo, Japan), respectively. Their parents were second‐degree cousins and were not affected by NS.

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