Background

The deficiency of interleukin-36 receptor antagonist (DITRA) is a monogenic autoinflammatory co ndition associated with generalized pustular psoriasis (GPP). Diagnostic criteria and treatment re commendations for DITRA are inadequate. The diagnosis is established by detecting a biallelic lo ss-of-function mutation in IL36RN, which leads to activation of the IL36 pathway.

Discussion

Pediatric case of GPP with a novel IL36RN mutation that supports the diagnosis of DITRA. In pat ents with DITRA unresponsive to IL-1 targeted therapies, favorable results may be achieved with he administration of TNF-a inhibitors, particularly IL-36 pathway inhibitors. Twenty-nine papers, encompassing 55 pediatric cases, were synthesized to contextualize treatment responses.

Conclusion

Novel DITRA-associated mutations continue to be discovered. Given the rarity of the disease, it wi Il be possible to reveal the genotype-phenotype relationship in the future with the publication of la .rger DITRA case series.

Nadia Elhouni is a distinguished medical professional with over 30 years of extensive clinical experience in dermatology. She currently serves as an Assistant Professor at the University of Tripoli, where she actively contributes to academic teaching and mentorship of future medical professionals. With profound expertise in dermatological practice, Dr. Elhouni seamlessly integrates evidence-based medicine with patient-centered care. Her dedication to medical education, continuous professional development, and the advancement of dermatological sciences reflects her commitment to delivering high-quality healthcare services.