Dupilumab Improves Pruritus in Netherton Syndrome: A Case Study

Abstract

The patient was a 26-year-old male. He had red and scaling skin of the entire body since birth, as well as an elevated level of serum IgE. Genetic testing revealed a mutation in the SPINK5 gene, which had confirmed the diagnosis with Netherton syndrome. He has had significant pruritis since birth, and subsequently had symptoms of sleeping disorders and concentration difficulty throughout the day. Since treatment with various antihistamines were not effective, we administered dupilumab and found that it was effective in immediate elimination of pruritus and gradual reduction of the rash. Dupilumab has been administered for one year without any adverse events or recurrence of symptoms. Although studies have previously described cases who used dupilumab for Netherton syndrome, reported effects have been limited or transient. Additional studies are needed to confirm the effect of dupilumab for Netherton syndrome, which currently lack any effective treatment strategies.

Treatment of Netherton syndrome with dupilumab

“…To our knowledge, a total of ten cases including ours have been described, highlighting the encouraging effects of dupilumab in NS (Table 2) [4][5][6][7][8][9][10] . In seven out of ten patients, dupilumab achieved a sustained response.…”

Dupilumab in Inflammatory Skin Diseases: A Systematic Review

“…Other typical findings are ichthyosis (type linearis circumflexa) and hair abnormalities (trichorrhexis invaginata). Dupilumab treatment for patients with Netherton syndrome was reported in a total of 16 cases ( Table 6 ) [ 195 , 196 , 197 , 198 , 199 , 200 , 201 , 202 , 203 , 204 , 205 ]. All cases showed prompt resolution of itch measured by NRS and an improvement of skin lesions evaluated by EASI or BSA within 3 months.…”

Dupilumab: Advances in the off‐label usage ofIL4/IL13antagonist in dermatoses

“…Mutations in SPINK5 could increase the expression level of kallikrein 5, which can activate Th2 immune responses via stimulating the production of various proinflammatory molecules. 78 8 NS patients were reported to successfully treated with dupilumab [79][80][81][82][83][84][85][86] : four patients got significant improvement within several days after the first loading dose of 600 mg especially for pruritus. All the patients were reported to have a clearance of all the lesions after an average treatment duration of 6.1 months.…”