Aarskog–Scott syndrome and atopic dermatitis successfully treated with dupilumab: a casual presentation?

Calabrese, Giulia; Licata, Gaetano; Buononato, Dario; Gambardella, Alessio; Rosa, Alina De; Argenziano, Giuseppe

doi:10.1111/ced.14924

Cited by 3 publications

(5 citation statements)

References 2 publications

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“…However, Calabrese et al proposed the atopic features and responsiveness to dupilumab in a patient with Aarskog-Scott syndrome might be related to the proximity of the mutated locus to the gene responsible for Wiskott-Aldrich syndrome, which is characterized by an immune imbalance toward type 2 immunity and allergic features. 36,60,61 In the case of NF-1, excessive collagen production in the pathogenesis of neurofibroma was activated by IL-4, IL-13, and JAK/STAT pathways. 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.…”

Section: Discussionmentioning

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: Discussionmentioning

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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“…In clinical practice, due to the superposition of clinical phenotypes, it is often necessary to distinguish AAS from other genetic diseases such as Robin syndrome, Optiz syndrome, Bloom syndrome, Noonan syndrome, and pseudo-parathyroidism. Recent studies showed that patients with AAS showed multiple abnormalities, including anatomic abnormalities such as cardiovascular system symptoms (e.g., aortic stenosis and right ventricular hypertrophy) ( Fernandez et al, 1994 ), nerve mental symptoms such as bipolar disorder, ADHD, autism spectrum disorders, epilepsy, Asperger’s syndrome, and intellectual disability ( Nayak et al, 2012 ), and musculoskeletal system conditions such as symmetrical distal joint disease, myopathy, hip dislocation, finger and knee jerk before stretching, and flat feet ( Zielinski and Pack, 2008 ), Moreover, Bayat and Calabrese both reported that myopathic involvement should be considered in AAS ( Bayat et al, 2022 ) ( Calabrese et al, 2022 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study

Liang

et al. 2022

Front. Genet.

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Aarskog-Scott syndrome is a rare genetic disorder characterized by short stature, abnormal facial features, and digital and genital deformities. FGD1 gene variation is the known cause of this disorder. This paper described a Chinese family study of Aarskog-Scott syndrome in which the main patients were two brothers. Then, the relationship between genotype and phenotype in Aarskog-Scott syndrome was investigated preliminarily. A new FGD1 gene variant was revealed in this study, providing insights into the link between phenotype and genotype variations in Aarskog-Scott syndrome as well as a foundation for its diagnosis and treatment.

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“…Allerdings schlugen Calabrese et al. vor, dass die atopischen Merkmale und das Ansprechen auf Dupilumab bei einem Patienten mit Aarskog‐Scott‐Syndrom in Zusammenhang mit der Nähe des mutierten Genorts zum verantwortlichen Gen für das Wiskott‐Aldrich‐Syndrom stehen könnte, das durch ein Ungleichgewicht des Immunsystems hin zu einer Typ‐2‐Immunität und allergischen Eigenschaften charakterisiert ist 36,60,61 . Bei NF‐1 wurde die übermäßige Kollagensynthese bei der Pathogenese der Neurofibrome durch die IL‐4‐, IL‐13‐, und JAK/STAT‐Signalwege aktiviert 62,63 .…”

Section: Diskussionunclassified

“…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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Aarskog–Scott syndrome and atopic dermatitis successfully treated with dupilumab: a casual presentation?

Cited by 3 publications

References 2 publications

Dupilumab in the treatment of genodermatosis: A systematic review

Dupilumab in the treatment of genodermatosis: A systematic review

Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study

Dupilumab zur Behandlung von Genodermatosen: Eine systematische Übersicht

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