Effects of dupilumab in type 1 neurofibromatosis coexisting with severe atopic dermatitis

Chello, Camilla; Sernicola, Alvise; Paolino, Giovanni; Grieco, Teresa

doi:10.1016/j.abd.2020.10.006

Cited by 5 publications

(9 citation statements)

References 4 publications

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“…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%

“…62,63 Dupilumab may interfere with the binding of IL-4 and IL-13 to type I and type II receptors on mast cells and fibroblasts, thereby halting the progression and decreasing the size of neurofibromas. 2,38 Lastly, in IPEX syndrome, a master control gene of regulatory T cells called FOXP3 is mutated, resulting in skewed activation and proliferation of Th2 cells as in atopic dermatitis, hence allowing dupilumab to achieve clinical improvement in the case reported by Maher et al 41,64 Although driven by different mechanisms, the efficacy of dupilumab in the treatment of these diseases was expected.…”

Section: Discussionmentioning

confidence: 99%

“…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: 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: Discussionmentioning

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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“…One report of a patient with neurofibromatosis type 1 treated with dupilumab for concomitant AD showed a size reduction of preexisting neurofibromas and stable size and number of neurofibromas for a follow-up of 1.5 years [ 210 ].…”

Section: Resultsmentioning

confidence: 99%

Dupilumab in Inflammatory Skin Diseases: A Systematic Review

et al. 2023

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Dupilumab was first approved for the treatment of atopic dermatitis (AD) and blocks the signaling of interleukin (IL)-4 and -13. Several other chronic skin conditions share mechanistic overlaps with AD in their pathophysiology, i.e., are linked to type 2 inflammation. Most recently, dupilumab was approved by the U.S. Food and Drug Administration for prurigo nodularis (PN). Given its relatively good safety profile, effective off-label use of dupilumab has been reported for a multitude of dermatologic diseases and several clinical trials for dermatologic skin conditions are currently ongoing. We conducted a systematic review of applications of dupilumab in dermatology other than AD and PN by searching the databases PubMed/Medline, Scopus, Web of Science and Cochrane Library as well as the clinical trial registry ClinicalTrials.gov. We found several reports for effective treatment of bullous autoimmune diseases, eczema, prurigo, alopecia areata, chronic spontaneous urticaria, Netherton syndrome and a variety of other chronic inflammatory skin diseases.

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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

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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Effects of dupilumab in type 1 neurofibromatosis coexisting with severe atopic dermatitis

Cited by 5 publications

References 4 publications

Dupilumab in the treatment of genodermatosis: A systematic review

Dupilumab in the treatment of genodermatosis: A systematic review

Dupilumab in Inflammatory Skin Diseases: A Systematic Review

Dupilumab zur Behandlung von Genodermatosen: Eine systematische Übersicht

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