M501 an Adolescent Patient With Krt10 Mutation-Associated Ichthyosis Successfully Treated With Dupilumab

Afshan, T.; Kelbel, Theodore

doi:10.1016/j.anai.2019.08.450

Cited by 4 publications

(5 citation statements)

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“…After initiation of dupilumab treatment, the skin lesions and pruritus showed significant improvement. In addition, asthma in one patient with keratin‐10 mutation‐related ichthyosis showed better control after drug initiation 34 . In another patient with NF‐1, the number of neurofibromas stabilized after dupilumab use and the size of some larger neurofibromas even decreased 38 …”

Section: Resultsmentioning

confidence: 99%

“…24,25,27,28 Other conditions A total of eight patients in six studies were identified, including patients with Hailey-Hailey disease (three patients), neurofibromatosis-1 (NF-1) (one patient), ichthyosis (one patient), Aarskog-Scott syndrome (one patient), hypohidrotic ectodermal dysplasia (one patient), immune dysregulation, polyendocrinopathy, enteropathy, X (IPEX) syndrome (one patient). [34][35][36][37][38][39][40][41] Patients with Hailey-Hailey disease presented with erythematous and macerated plaques over the intertriginous area. Other patients had severe, intractable eczema, or atopic dermatitis refractory to topical and systemic treatment.…”

Section: Hyper-immunoglobulin E Syndromementioning

confidence: 99%

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Dupilumab in the treatment of genodermatosis: A systematic review

Dai

et al. 2023

J Deutsche Derma Gesell

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Summary Dupilumab interferes with the signaling pathways of IL‐4 and IL‐13 and is effective in treating atopic dermatitis. Specific genodermatoses, including Netherton syndrome, epidermolysis bullosa pruriginosa, and hyper‐IgE syndrome, are Th2 skewed diseases with activation of type 2 inflammation. We performed this systematic review to investigate the therapeutic role of dupilumab in the treatment of genodermatosis. A systematic search was conducted of the PubMed, Embase, Web of Science, and Cochrane databases from inception to December 13, 2021. The review included studies with relevant terms including “dupilumab,” “genodermatosis”, “Netherton syndrome”, “ichthyosis”, “epidermolysis bullosa” and “hyper‐IgE syndrome”. The initial search yielded 2,888 results, of which 28 studies and 37 patients with genodermatosis were enrolled. The assessed genodermatoses included Netherton syndrome, epidermolysis bullosa pruriginosa, hyper‐IgE syndrome, Hailey‐Hailey disease, and severe eczema associated with genetic disorders. Most of the reported cases showed significant clinical improvement after the initiation of dupilumab treatment without major adverse events. Decreased immunoglobulin E levels and cytokine normalization have also been documented. In conclusion, Dupilumab may have a potential therapeutic role in certain genodermatoses skewed towards T helper 2 (Th2) immunity, including Netherton syndrome, epidermolysis bullosa pruriginosa, hyper‐IgE syndrome, Hailey‐Hailey disease, and severe eczema associated with some genetic disorders.

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Section: Resultsmentioning

confidence: 99%

Section: Hyper-immunoglobulin E Syndromementioning

confidence: 99%

Dupilumab in the treatment of genodermatosis: A systematic review

Dai

et al. 2023

J Deutsche Derma Gesell

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“…Dupilumab reduces inflammation and pruritus in patients with Ichthyosis by inhibiting interleukin-4 and interleukin-13 signaling. Studies indicate that Netherton syndrome and bullous congenital ichthyosiform erythroderma BCIE can be treated well and that managing Ichthyosis in children may be possible (Afshan & Kelbel, 2019;Almuhanna, Alrashidi, et al, 2023;Martin-García et al, 2023;Olbrich et al, 2023). Ustekinumab has been investigated for the treatment of Ichthyosis in pediatric patients, particularly in the case of a 15-year-old boy with Harlequin ichthyosis (HI).…”

Section: Literature Reviewmentioning

confidence: 99%

Advancements in Ichthyosis Treatment in Pediatric Patients: Evaluating the Impact of Immune System Inhibitors Targeting TNF-alpha, IL-17A, IL-4, and IL-12

Elsayed,

Khater

2024

Am. J. Life Sci. Innov.

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Lamellar, X-linked recessive, and Vulgaris ichthyosis represent rare genetic variants distinguished by abundant dry surface scales. The etiology of childhood ichthyosis involves a combination of acquired and inherited factors. Children with Ichthyosis have a Th17-dominant immune profile, similar to psoriasis, with a correlation between ichthyosis severity, erythema, Trans Epidermal Water Loss (TEWL), and immunological markers. In order to examine the safety and effectiveness of immune system inhibitors that target TNF-alpha, IL-17A, IL-4, and IL-12 in the treatment of pediatric Ichthyosis, a retrospective research study was conducted on 30 pediatric patients aged 6-12 years at tertiary care pediatric dermatology hospitals in UAE, for a time duration of 5 months. IL-17-A is a key cytokine of Ichthyosis, and its specific suppression is considered necessary in contrast to other cytokines. Consequently, the choice of treatment was dictated by elements unique to the condition and the intensity of symptoms, focusing on using Secukinumab as an IL-17-A inhibitor. The findings showed that, following five months of treatment, patients receiving secukinumab showed positive outcomes, with their ichthyosis area severity index score declining by 45 to 50%. Additionally, the proinflammatory rate of cytokines was significantly lower in this group of patients compared to the placebo-treated control group. The safety and Efficacy of Secukinumab compared to Ixekizumab and Brodalumab vs placebo were examined using t-tests, with statistical significance determined at P< 0.05. The present research study concludes that Secukinumab effectively enhances skin texture and reduces scaling severity in Ichthyosis, suggesting clinical relevance. The findings underscore Secukinumab’s potential as a beneficial agent for various ichthyosis types, such as lamellar, X-linked, and vulgaris. The study’s comparison with placebo and other IL-17A inhibitors like Ixekizumab and Brodalumab provides valuable insights into Secukinumab’s Efficacy and potential clinical uses.

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“…Insgesamt wurden in sechs Studien acht Patienten identifiziert, darunter Patienten mit Morbus Hailey‐Hailey (3 Patienten), Neurofibromatose‐1 (NF‐1) (1 Patient) Ichthyose (1 Patient), Aarskog‐Scott‐Syndrom (1 Patient), hypohidrotische ektodermale Dysplasie (1 Patient) und Immundysregulation, Polyendokrinopathie, Enteropathie, X‐chromosomales (IPEX) Syndrom (1 Patient) 34–41 . Patienten mit Morbus Hailey‐Hailey wiesen erythematöse und mazerierte Papeln im Bereich der Intertrigines auf.…”

Section: Ergebnisseunclassified

“…Nach Einleitung der Dupilumab‐Behandlung ergaben sich bei Hautläsionen und Pruritus signifikante Verbesserungen. Außerdem zeigte ein Patient mit einer durch eine Keratin‐10‐Mutation bedingten Ichthyose eine bessere Kontrolle nach Einleitung der Behandlung 34 . Bei einem anderen Patienten mit NF‐1 stabilisierte sich die Anzahl der Neurofibrome nach Anwendung von Dupilumab und die Größe einiger größerer Neurofibrome nahm sogar ab 38 …”

Section: Ergebnisseunclassified

Dupilumab zur Behandlung von Genodermatosen: Eine systematische Übersicht

Dai

et al. 2023

J Deutsche Derma Gesell

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Zusammenfassung Dupilumab greift in die Signalwege von IL‐4 und IL‐13 ein und wird erfolgreich zur Behandlung der atopischen Dermatitis eingesetzt. Genodermatosen wie das Netherton‐Syndrom, die Epidermolysis bullosa pruriginosa und das Hyper‐IgE‐Syndrom sind Th2‐vermittelte Erkrankungen mit Aktivierung einer Typ‐2‐Entzündung. In dieser systematischen Übersicht haben wir die therapeutische Rolle von Dupilumab bei der Behandlung von Genodermatosen untersucht. Dazu wurden die Datenbanken PubMed, Embase, Web of Science und Cochrane seit ihrer Einführung bis zum 13. Dezember 2021 systematisch durchsucht. Die Übersicht umfasst Studien mit relevanten Begriffen, einschließlich „Dupilumab“, „Genodermatose“, „Netherton‐Syndrom“, „Ichthyose“, „Epidermolysis bullosa“ und „Hyper‐IgE‐Syndrom“. Die anfängliche Suche ergab 2888 Treffer; davon wurden 28 Studien und 37 Patienten mit Genodermatosen eingeschlossen. Zu den beurteilten Genodermatosen gehörten Netherton‐Syndrom, Epidermolysis bullosa pruriginosa, Hyper‐IgE‐Syndrom, Morbus Hailey‐Hailey und schwere Ekzeme im Zusammenhang mit genetischen Erkrankungen. Die meisten der beschriebenen Fälle zeigten eine signifikante klinische Verbesserung nach Einleitung der Dupilumab‐Behandlung ohne wesentliche unerwünschte Ereignisse. Zudem wurden eine Verringerung der Immunglobulin‐E‐Spiegel und eine Normalisierung der Zytokinspiegel dokumentiert. Zusammenfassend hat Dupilumab möglicherweise eine therapeutische Rolle bei bestimmten Genodermatosen mit einer abnormal gesteigerten Typ‐2‐T‐Helfer‐Immunität (Th2), einschließlich Netherton‐Syndrom, Epidermolysis bullosa pruriginosa, Hyper‐IgE‐Syndrom, Morbus Hailey‐Hailey und schweren Ekzemen bei genetischen Erkrankungen.

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M501 an Adolescent Patient With Krt10 Mutation-Associated Ichthyosis Successfully Treated With Dupilumab

Cited by 4 publications

References 0 publications

Dupilumab in the treatment of genodermatosis: A systematic review

Dupilumab in the treatment of genodermatosis: A systematic review

Advancements in Ichthyosis Treatment in Pediatric Patients: Evaluating the Impact of Immune System Inhibitors Targeting TNF-alpha, IL-17A, IL-4, and IL-12

Dupilumab zur Behandlung von Genodermatosen: Eine systematische Übersicht

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