VEXAS syndrome: A dermatological perspective

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.