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VEXAS syndrome: A dermatological perspective.

Jacqueline K Nguyen1, David Routledge2,3, Carrie van Der Weyden2

  • 1Department of Dermatology, St Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia.

The Australasian Journal of Dermatology
|October 5, 2022
PubMed
Summary

VEXAS syndrome, a severe autoinflammatory disorder, presents with diverse skin issues and blood cell dysfunction. Early dermatologist and hematologist collaboration is crucial for managing this rare, treatment-resistant condition.

Keywords:
UBA1 proteinX-linkedgenetic skin diseasesmyelodysplastic syndromessweet syndrome

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Area of Science:

  • Genetics
  • Immunology
  • Dermatology
  • Hematology

Background:

  • VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic mutation) syndrome is a recently identified genetic disorder characterized by inflammatory syndromes and hematological dysfunction.
  • This severe condition has a high mortality rate (40-63%) and presents with a broad spectrum of cutaneous manifestations.
  • Treatment resistance is a hallmark of VEXAS syndrome, posing significant clinical challenges.

Purpose of the Study:

  • To report two cases of VEXAS syndrome presenting with treatment-resistant neutrophilic dermatosis and myelodysplastic syndrome.
  • To emphasize the importance of dermatological awareness for early VEXAS syndrome diagnosis.
  • To advocate for prompt referral to hematologists for integrated multidisciplinary care.

Main Methods:

  • Case report of two patients diagnosed with VEXAS syndrome.
  • Clinical assessment of dermatological and hematological features.
  • Review of diagnostic criteria and treatment outcomes.

Main Results:

  • Both patients exhibited treatment-resistant neutrophilic dermatosis and myelodysplastic syndrome.
  • Subsequent diagnosis of VEXAS syndrome was confirmed in both cases.
  • The findings underscore the significant dermatological impact of VEXAS syndrome.

Conclusions:

  • VEXAS syndrome requires increased awareness among dermatologists due to its varied cutaneous presentations.
  • Early recognition and referral to hematology are essential for timely diagnosis and management.
  • Multidisciplinary collaboration is key to improving outcomes for patients with VEXAS syndrome.