Generalized eczematous dermatitis and pruritus responsive to dupilumab in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome

Maher, Maeve C.; Hall, Erin M.; Horii, Kimberly A.

doi:10.1111/pde.14717

Cited by 8 publications

(10 citation statements)

References 5 publications

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“…Recently, for the first time an IPEX patient with diffuse eczema was successfully treated with dupilumab. In this case, patient's dermatitis and itching persisted without improvement despite the HSCT and immune suppressive drugs ( 149 ).…”

Section: Novel Genes Associated With Cytokine Signaling Defectsmentioning

confidence: 84%

Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement

et al. 2023

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Inborn errors of immunity associated with atopy (IEIs-A) are a group of inherited monogenic disorders that occur with immune dysregulation and frequent skin involvement. Several pathways are involved in the pathogenesis of these conditions, including immune system defects, alterations of skin barrier and metabolism perturbations. Current technological improvements and the higher accessibility to genetic testing, recently allowed the identification of novel molecular pathways involved in IEIs-A, also informing on potential tailored therapeutic strategies. Compared to other systemic therapy for skin diseases, biologics have the less toxic and the best tolerated profile in the setting of immune dysregulation. Here, we review IEIs-A with skin involvement focusing on the tailored therapeutic approach according to their pathogenetic mechanism.

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Section: Novel Genes Associated With Cytokine Signaling Defectsmentioning

confidence: 84%

Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement

et al. 2023

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“…Mutations in FOXP3 lead to dysfunction of Tregs and severe clinical findings termed IPEX syndrome often associated with various inflammatory skin diseases. One case of a patient with pruritic eczema due to IPEX syndrome was treated efficiently with dupilumab with sustained resolution of skin findings after a range of ineffective aggressive immunosuppressive therapies as well as bone marrow transplantation [ 212 ].…”

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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“…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%

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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Generalized eczematous dermatitis and pruritus responsive to dupilumab in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome

Cited by 8 publications

References 5 publications

Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement

Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement

Dupilumab in Inflammatory Skin Diseases: A Systematic Review

Dupilumab in the treatment of genodermatosis: A systematic review

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