Netherton syndrome; neuropsychological and psychosocial functioning of child and adult patients and their parents

Versteegh, Josette; Dulfer, Karolijn; Stuvel, Kira; Pasmans, Suzanne G.M.A.; Utens, Elisabeth M. W. J.

doi:10.1177/1359105318790052

Cited by 8 publications

(9 citation statements)

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“…This finding is associated with significant impairment of quality of life and sleep, overprotection by parents, stigmatization, and isolation. 3 In 2017, Paller et al 8 reported that several disorders of keratinization are defined by an IL-17-dominant immune profile, and Malik et al 10 reported that patients with NS had the highest induction of T H 17/IL-23 pathway genes. Targeted therapy has been tried with the anti-TNF agent infliximab in 2 adult patients with NS, resulting in cutaneous improvement.…”

Section: Key Pointsmentioning

confidence: 99%

“…Skin infections are common, as are allergies, asthma, and increased levels of circulating eosinophils and total IgE . Affected individuals have lifelong ichthyosis lineariz circumflexa, associated with erythroderma, and pruritus . Treatment of NS is difficult, with the mainstay being bland emollients.…”

Section: Introductionmentioning

confidence: 99%

“…1,2 Affected individuals have lifelong ichthyosis lineariz circumflexa, associated with erythroderma, and pruritus. 3 Treatment of NS is difficult, with the mainstay being bland emollients. Topical corticosteroids and calcineurin in-hibitors may provide short-term benefit, but the former have a high risk of increased transcutaneous absorption and the latter have a high risk of resultant Cushing syndrome and immune suppression.…”

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confidence: 99%

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Secukinumab Therapy for Netherton Syndrome

et al. 2020

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etherton syndrome (NS) is a rare autosomal recessive skin disorder caused by mutations in SPINK5 (OMIM 605010), leading to severely impaired skin barrier function. Patients are at risk for complications such as hypernatremic dehydration, impaired thermoregulation, failure to thrive, and sepsis. Skin infections are common, as are allergies, asthma, and increased levels of circulating eosinophils and total IgE. 1,2 Affected individuals have lifelong ichthyosis lineariz circumflexa, associated with erythroderma, and pruritus. 3 Treatment of NS is difficult, with the mainstay being bland emollients. Topical corticosteroids and calcineurin in-hibitors may provide short-term benefit, but the former have a high risk of increased transcutaneous absorption and the latter have a high risk of resultant Cushing syndrome and immune suppression. As for systemic agents, low-dose retinoids, infliximab, and intravenous immunoglobulins have been tried with variable success. [4][5][6][7] Recent studies showed that NS shares an immune profile similar to psoriasis with helper T cell (T H ) 17/interleukin 23 (IL-23) and IL-17/tumor necrosis factor (TNF) synergistic activation. 8-10 Herein we report our experience using the IL-17A antagonist secukinumab in patients with NS. IMPORTANCENetherton syndrome (NS) is a rare, severe genetic disorder of cornification with high morbidity. Treatment for NS has been notoriously difficult. Recent studies showed an upregulated helper T cell (T H ) 17/interleukin 23 (IL-23) pathway in NS, suggesting the possibility of treatment strategies that target IL-17. OBJECTIVE To evaluate the clinical response of NS to treatment with the IL-17 antagonist secukinumab.

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Section: Key Pointsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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confidence: 99%

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Secukinumab Therapy for Netherton Syndrome

et al. 2020

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“…Finally, NS patients can show psychosocial and neuropsychological problems. Thus, in order to recognize these issues at an early phase, a standard follow-up is needed ( 86 ).…”

Section: Resultsmentioning

confidence: 99%

Netherton Syndrome in Children: Management and Future Perspectives

et al. 2021

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Netherton syndrome (NS) is a genetic, multisystemic disease classically distinguished by a triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation. Due to the complex pathogenesis of the disease, there are no specific therapies currently accessible for patients with NS. An early diagnosis is crucial to start the correct management of these patients. A multidisciplinary approach, including specialists in immunology, allergology, and dermatology, is necessary to set up the best therapeutic pathway. We conducted a review with the aim to summarize the different therapeutic strategies currently accessible and potentially available in the future for children with NS. However, given the limited data in the literature, the best-tailored management should be decided upon the basis of the specific clinical characteristics of the patients with this rare clinical condition. Further comprehension of the pathophysiology of the disease could lead to more efficacious specific therapeutic options, which could allow a change in the natural history of NS.

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“…Quality of life was only reported in 5 studies ( 29 , 40 , 54 , 63 , 65 ). The strong focus on skin related problems combined with sparse attention for patients’ functioning as a person does not reflect the full range of impact that NS has on patient’s lives ( 75 ). Furthermore, side effects were infrequently reported, which may flatter treatment outcomes.…”

Section: Discussionmentioning

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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Netherton syndrome; neuropsychological and psychosocial functioning of child and adult patients and their parents

Abstract: Compared with normative data, Netherton syndrome patients showed neuropsychological and psychosocial problems. Standard follow-up is necessary to identify problems at early stage.

Cited by 8 publications

References 42 publications

Secukinumab Therapy for Netherton Syndrome

Secukinumab Therapy for Netherton Syndrome

Netherton Syndrome in Children: Management and Future Perspectives

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

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