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News

Article

Abrocitinib Shows Promise as a Therapy for Netherton Syndrome

Key Takeaways

  • Abrocitinib treatment led to significant improvements in skin and immune symptoms in a Netherton Syndrome patient over six months.
  • The patient showed reductions in BSA, EASI, and VAS scores, indicating improved disease management.
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A new case report demonstrated the JAK inhibitor’s efficacy at improving disease severity up to 6 months.

patient with erythroderma associated with Netherton Syndrome | Image Credit: © dermnetnz.org

Image Credit: © dermnetnz.org

Abrocitinib could potentially be safe and effective for Netherton Syndrome, according to a recent case report.1 One patient saw improvements in skin, hair, and immune system symptoms after 6 months of treatment.

The rare disease is caused by mutations in the serine protease inhibitor Kazal-type 5 (SPINK5). It affects 1 in 200,000 people.2 Typically, symptoms of erythroderma and desquamation first present at birth or shortly after. This then leads to erythema, scaling, and pruritus. Patients are also at an increased risk for other infections and complications like human papillomavirus infections, basal cell carcinoma, and squamous cell carcinoma. There is currently no distinct cure, but biologics have been evaluated for relieving symptoms.

“Given the genetic nature of NS, a complete cure remains unattainable at present. Therefore, treatment must be individualized based on the patient’s condition and the available therapeutic options,” the authors wrote.

One participant, a 29-year-old female, presented with dry skin, short sparse hair, serpiginous erythema, and extensive erosions with white scales on the trunk and limbs. Dermoscopic and histopathologic evaluations also showed bamboo-like hair (trichorrhexisinvaginate), mild hyperkeratosis, acanthosis, elongation of rete ridges, mild spongiosis of stratum spinosum, mild edema in the dermis, and perivascular lymphocyte infiltration in the dermis. Erythroderma and other skin symptoms had been present since birth but significantly worsened in the last 5 years. Various treatments were used with little improvement, including antihistamines, corticosteroids, emollients, and Chinese medicinal herb ointments.

Genetic analysis was conducted, and hair and skin tissues from the patient were analyzed. Investigators used Body Surface Area (BSA), the Eczema Area and Severity Index (EASI), and the Visual Analog Scale (VAS) to assess disease symptoms. At baseline, there was a BSA involvement of 63%, an EASI score of 30.2, and a VAS score of 8.

With the genetic analysis, compound heterozygous mutations in the SPINK5 gene were found, confirming the diagnosis of Netherton Syndrome. To treat, the patient initially began therapy with 1 month of omalizumab 300 mg. Although BSA was reduced, this worsened the rash, so clinicians switched to abrocitinib, a JAK inhibitor.

Improvements in cutaneous manifestation, dense hair growth, and skin rash severity were observed after treatment with abrocitinib. In 1 month, BSA dropped to 51%, EASI decreased to 22.6, and VAS reduced to 8. More positive changes were recorded after 3 months with BSA dropping to 38%, EASI decreasing to 15, and VAS reducing to 4. Finally, at the 6-month mark, BSA was at 20%, EASI was at 7.2, and VAS was at 2. Total immunoglobulin E (IgE) levels and eosinophil count (EO#) also decreased throughout the trial. These elevated levels are commonly seen in allergy skin conditions like atopic dermatitis and urticaria.

No adverse events occurred, and coagulation and blood lipid tests remained normal. However, it is worth noting that abrocitinib could not restore the bamboo hair phenotype. The patient was lost to follow-up after 8 months of treatment.

Although this case report is just the initial stages of evaluating abrocitinib’s potential, this positive response presents a promising option for patients with Netherton Syndrome. Further clinical research with larger sample sizes can confirm abrocitinib’s safety and effectiveness for managing Netherton Syndrome.

References

1. Tang JT, Qin YL, Zhao WJ, Tu Y, Sun DJ. Abrocitinib alleviates the symptoms of Netherton syndrome and is well tolerated. J Dermatolog Treat. 2025;36(1):2447883. doi:10.1080/09546634.2024.2447883

2. Barbati F, Giovannini M, Oranges T, et al. Netherton Syndrome in Children: Management and Future Perspectives. Front Pediatr. 2021;9:645259. Published 2021 May 10. doi:10.3389/fped.2021.645259

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