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Interleukin-36 Receptor Antagonist Deficiency (DITRA) with a Novel IL36RN Homozygous Mutation c.200G > T (P.Cys67Phe) in a Young Colombian Woman

  • Andres F. Zea-VeraEmail author
  • Felipe E. Estupiñan-Lopez
  • Jaqueline Cifuentes-Burbano
  • Myriam J. Vargas
  • Anilza Bonelo
Letter to Editor

To the editor,

Generalized pustular psoriasis (GPP) is an unusual clinical presentation of pustular psoriasis. The acute variant of generalized pustular psoriasis or Von Zumbusch psoriasis is characterized by the abrupt onset of numerous pustules, widespread erythema, and systemic symptoms representing a life-threatening condition. Deficiency of interleukin-36 receptor antagonist (DITRA) is an auto-inflammatory disorder characterized by sterile inflammation of the skin and has been related to GPP. Here we report the case of a young Colombian woman with relapsing-remitting–generalized pustular psoriasis with a novel IL36RN homozygous mutation establishing the diagnosis of deficiency of IL-36 receptor antagonist (DITRA; OMIM 614204).

Case Presentation

A 19 years old Colombian female was evaluated at the outpatient psoriasis clinic in a third level hospital in the city of Cali, Colombia. The patient complained of having scaly plaques in the trunk and extremities with severe pruritus for...

Notes

Compliance with Ethical Standards

Conflict of Interest

The authors declared that they have no conflict of interest.

Supplementary material

10875_2019_622_MOESM1_ESM.docx (92 kb)
ESM 1 (DOCX 92 kb)

References

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Microbiology Department, Faculty of HealthUniversidad del ValleCaliColombia
  2. 2.Clinical Immunology ClinicHospital Universitario del ValleCaliColombia
  3. 3.Dermatology Service, Faculty of HealthUniversidad del ValleCaliColombia
  4. 4.Psoriasis and Phototherapy ClinicHospital Universitario del ValleCaliColombia

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