2026-07-06 | The role of dupilumab in skin microbiome shifts in the Netherton genodermatosis: a case report and review of literature.

Skin dysbiosis plays a crucial role in inflammatory skin diseases, particularly in genodermatoses such as Netherton syndrome (NS). This case report aimed to investigate changes in the skin microbiome of a patient with Netherton syndrome before and during dupilumab therapy, with the goal of expanding the limited evidence currently available on this topic. We report the case of a 35-year-old woman diagnosed with NS at birth, who, prior to dupilumab therapy, presented with atopic dermatitis (AD), ichthyosis linearis circumflexa, and severe pruritus. Dupilumab therapy was initiated, and skin swabs were collected from lesional sites at three different time points: at baseline, after 1 month, and after 1 year of continuous dupilumab therapy. At baseline, a microbiome analysis revealed low microbial diversity with a predominance of Pantoea and Pseudomonas species. After 1 year, a significant increase in microbial diversity, with a predominance of Staphylococcus species and an increase in Malassezia species, was observed. Clinically, the patient experienced remission in parallel with these microbiome shifts. Post-treatment, the skin microbiome showed increased microbial diversity and re-establishment of beneficial commensals, more closely resembling healthy skin. The findings of this case report underscore the role of dupilumab in restoring a healthy skin microbiome along with symptomatological and clinical improvement in the genodermatosis Netherton syndrome.

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2026-06-17 | Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata

Introduction SPINK5-syndromic epidermal differentiation disorder (also known as Netherton syndrome (NS)) is a severe chronic genetic disorder characterized by skin inflammation, severe atopy and Trichorrhexis invaginata (TI). Causative SPINK5 gene mutations result in defective serin protease inhibitor LEKTI, leading to unopposed serine protease activity and resulting in impaired skin barrier and type 2 inflammation. TI is the result of an intermittent keratinization defect of the hair cortex, a problem without specific treatment available to date. Case Presentation We diagnosed NS in a 67-year-old woman who had severe skin manifestations and a hair-growth defect since childhood. Scalp hair was sparse in the nuchal and temporoparietal regions. Trichoscopy of these areas showed numerous “bamboo” hairs which broke off during contact with the dermatoscope. We initiated treatment with dupilumab and optimized the topical therapy. At a 3-month follow-up, improvement of rash, pruritus and quality of life was reported. Furthermore, the previously brittle short hair was replaced with longer hair, and normal hair shafts in the previously affected areas. Conclusion Trichorrhexis invaginata as part of Netherton syndrome has a variable presentation, biologics currently treating cutaneous inflammation, but little is known about their effects on hair biology. In this report we show that Dupilumab treatment not only proved efficient for control of skin inflammation and pruritus, but was associated with near complete resolution of “bamboo” hair and promoted hair growth. Especially how alterations in the inflammatory response in NS can be linked to a structural defect has not been addressed in the current literature so far.

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2026-06-01 | What treatment strategies are described in case reports for managing skin manifestations in patients with Netherton syndrome?

Case reports describe a range of treatment strategies for managing skin manifestations in Netherton syndrome, including topical agents and systemic therapies such as biologics and immunoglobulins, although evidence is limited and variable in efficacy.

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