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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2026-06-01 | 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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2026-05-18 | Squamous Cell Carcinoma of the External Auditory Canal in a Patient with Netherton Syndrome.
Netherton syndrome is a rare autosomal recessive disorder characterized by congenital ichthyosis, hair shaft abnormalities, atopic diathesis, and a broad spectrum of immunologic dysfunction. Although cutaneous malignancies are uncommon, affected individuals may develop early-onset tumors that can pose diagnostic and therapeutic challenges. We report the case of a 33-year-old woman with Netherton syndrome who presented with persistent left otorrhea and a granulomatous mass in the external auditory canal. Imaging demonstrated a soft-tissue lesion with focal bony erosion and suspected dural involvement, accompanied by fluorodeoxyglucose uptake in a cervical lymph node. Biopsy confirmed squamous cell carcinoma (SCC), staged as T4N1M0. The patient underwent superselective intra-arterial cisplatin infusion combined with radiotherapy, resulting in complete remission of both the primary lesion and nodal metastasis, with no evidence of recurrence over 4 years. Including this case, 9 patients with Netherton syndrome and cutaneous malignancies have been reported, with tumors frequently arising at a young age and showing variable HPV status. Interpretation of SCC antigen may be complicated by elevations associated with atopic dermatitis. This case highlights the elevated risk of cutaneous malignancies in Netherton syndrome and underscores the need for long-term surveillance and multidisciplinary care.
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2026-05-08 | Management of Netherton syndrome and hereditary angioedema with concurrent biologic therapy: a case report
Netherton syndrome (NS) is a rare autosomal recessive disorder caused by SPINK5 mutations, leading to impaired skin barrier function and severe atopic manifestations. Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) is a rare autosomal dominant disorder characterised by recurrent bradykinin-mediated angioedema. Their coexistence has not previously been reported, and evidence on combined biologic therapy is lacking. We report a 30-year-old woman with confirmed NS and long-standing HAE-C1-INH presenting with severe pruritus, xerosis, widespread eczema, elevated IgE, eosinophilia, and trichorrhexis invaginata. Dupilumab was initiated to target T helper (Th)2-mediated inflammation. Due to persistent angioedema attacks despite prior prophylaxis, lanadelumab was introduced. Dupilumab improved eczema severity, hyperkeratosis, and hair abnormalities over 13 months. Lanadelumab reduced angioedema attacks by 88.50%, allowing dose spacing while maintaining disease control. No adverse effects or drug interactions were observed. This is the first reported case of NS and HAE-C1-INH successfully treated with dual biologic therapy. Targeting distinct immunological pathways simultaneously may represent an effective and safe strategy for complex rare disease phenotypes.
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2026-05-06 | Bioengineering Game Changing Technology: a horizon scan of genetically engineered technologies
As the field of bioengineering continues to evolve rapidly, staying informed about promising technologies is essential for effectively applying new advancements to medical research and healthcare. This study used a novel, exploratory search method to generate a large number of results relevant to bioengineering. These terms were then first screened, cleaned, then grouped into clusters and visualised using VOSviewer, and finally those identified in VOSviewer as being particularly high frequency or new were further analysed by searching for applications in bibliographic databases and clinicaltrials.gov.Six keywords were identified using the novel methodology. The three most frequent were “CRISPR”, “microRNA” and “Saccharomyces cerevisiae”. Applications of these included using gene editing to alter the invasiveness of bladder cancer microtumours, using gene therapies to locally delivery microRNA (miRNA) to treat epilepsy, and S. cerevisiae being used to create therapeutics for immune support in Parkinson’s disease.The three keywords defined as newest were “Staphylococcus epidermidis”, “arginine” and “Herpesviridae”. Applications of these included an engineered S. epidermidis strain for the treatment of Netherton syndrome, engineering CAR-T cells to make their own arginine to attack cancer cells, and genetically altered herpes simplex virus to treat bladder cancer. This horizon scan used a new method to identify technologies with the potential to provide new solutions to unmet needs within genetic engineering. Some technologies could have important roles in addressing important national issues, such as antimicrobial resistance, and help to give patients access to more personalised medical care. This study demonstrates the utility of a novel horizon-scanning method to identify transformative genetic engineering technologies. These findings could inform policy, funding, and research priorities, ultimately improving patient access to innovative healthcare solutions.
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