Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome

Murase, Chiaki; Takeichi, Takuya; Taki, Tomoki; Yoshikawa, Toshiyuki; Suzuki, Akiko; Ogi, Tomoo; Suga, Yasushi; Akiyama, Masashi

doi:10.1016/j.jdermsci.2021.03.003

Cited by 37 publications

(48 citation statements)

References 10 publications

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“…Despite receiving treatments with moisturizers and antihistamines since birth, there was no improvements in the symptom of rash. Due to significant rash and pruritis, we decided to administer dupilumab, which became available for use in patients with atopic dermatitis, and whose effect on NS has been demonstrated in several studies [1][2][3][4][5]. Based on the recommended dose for atopic dermatitis, dupilumab was subcutaneously administered for the patient by an initial dose of 600 mg, followed by 300 mg every two weeks.…”

Section: Case Presentationmentioning

confidence: 99%

Dupilumab Improves Pruritus in Netherton Syndrome: A Case Study

et al. 2022

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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.

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Section: Case Presentationmentioning

confidence: 99%

Dupilumab Improves Pruritus in Netherton Syndrome: A Case Study

et al. 2022

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“…Although clinical improvement was observed in this patient, it is unclear whether the improvement can be attributed to prednisolone alone. Furthermore, six studies reported previous use of systemic corticosteroids in both children and adults with NS ( 41 , 63 – 66 , 71 ). Based on the mechanism of action and known side effects, systemic corticosteroids might not be the first choice of treatment in NS, but could be useful in flare-ups.…”

Section: Discussionmentioning

confidence: 99%

“…Retinoids have been described in several studies ( 37 – 39 ). In recent years, novel systemic treatment options for NS have been suggested in the literature, such as treatment with immunoglobulins, and biologicals targeting specific inflammatory pathways ( 29 , 40 , 41 ).…”

Section: Introductionmentioning

confidence: 99%

Outcomes of Systemic Treatment in Children and Adults With Netherton Syndrome: A Systematic Review

et al. 2022

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BackgroundComèl-Netherton syndrome (NS) is a rare disease caused by pathogenic variants in the SPINK5 gene, leading to severe skin barrier impairment and proinflammatory upregulation. Given the severity of the disease, treatment of NS is challenging. Current treatment regimens are mainly topical and supportive. Although novel systemic treatment options for NS have been suggested in recent literature, little is known about their outcomes.Objectiveto provide an overview of systemic treatment options and their outcomes in adults and children with NS.MethodsEmbase, MEDLINE, Web of Science, Cochrane Central Register of Controlled Trials, and Google Scholar were searched up to July 22, 2021. Empirical studies published in English language mentioning systemic treatment in NS were enrolled. Studies that did not define a treatment period or report at least one outcome were excluded. Methodological quality was evaluated by the Joanna Briggs Institute critical appraisal checklist for case reports or case series. Overall quality of evidence of the primary outcome, skin, was assessed by the GRADE approach.Results36 case series and case reports were included. The effects of 15 systemic therapies were described in 48 patients, of which 27 were children. Therapies included retinoids, prednisolone, cyclosporine, immunoglobulins, and biologicals. In retinoids both worsening (4/15 cases) and improvement (6/15 cases) of the skin was observed. Use of prednisolone and cyclosporine was only reported in one patient. Immunoglobulins (13/15 cases) and biologicals (18/21 cases) showed improvement of the skin. Certainty of evidence was rated as very low.ConclusionNS is a rare disease, which is reflected in the scarce literature on systemic treatment outcomes in children and adults with NS. Studies showed large heterogeneity in outcome measures. Adverse events were scarcely reported. Long-term outcomes were reported in a minority of cases. Nonetheless, a general beneficial effect of systemic treatment was found. Immunoglobulins and biologicals showed the most promising results and should be further explored. Future research should focus on determining a core outcome set and measurement instruments for NS to improve quality of research.Systematic Review Registrationhttps://www.crd.york.ac.uk/prospero/display_record.php?RecordID=217933, PROSPERO (ID: 217933).

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“…However, Murase et al . [ 64 ] reported two cases of NS patients who were treated with dupilumab, where the pruritus gradually reoccurred in the second week after the dupilumab injection. In a case report from Aktas et al .…”

Section: Overview Of New Therapies In Development For Ichthyosismentioning

confidence: 99%

“…[ 63 ] Case series NS Biological therapeutic; dupilumab 2021 Murase et al . [ 64 ] Case series NS Biological therapeutic; dupilumab 2020 Aktas et al . [ 65 ] Case report NS Biological therapeutic; dupilumab 2020 Volc et al .…”

Section: Introductionmentioning

confidence: 99%

New developments in the molecular treatment of ichthyosis: review of the literature

Joosten

Clabbers

Jonca

et al. 2022

Orphanet J Rare Dis

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Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made. This knowledge, combined with constant development of pathogenesis-based therapies, such as protein replacement therapy and gene therapy, are rather promising for patients with inherited skin diseases. Several ongoing trials are investigating the potency of these new approaches and various studies have already been published. Furthermore, a lot of case series report that biological therapeutics are effective treatment options, mainly for Netherton syndrome and autosomal recessive congenital ichthyosis. It is expected that some of these new therapies will prove their efficacy and will be incorporated in the treatment of ichthyosis.

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Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome

Cited by 37 publications

References 10 publications

Dupilumab Improves Pruritus in Netherton Syndrome: A Case Study

Dupilumab Improves Pruritus in Netherton Syndrome: A Case Study

Outcomes of Systemic Treatment in Children and Adults With Netherton Syndrome: A Systematic Review

New developments in the molecular treatment of ichthyosis: review of the literature

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