[Dermatological features of auto-inflammatory recurrent fevers].

Area of Science:

• Immunology
• Dermatology
• Genetics

Background:

• Auto-inflammatory diseases are systemic inflammatory conditions originating from innate immunity dysregulation.
• Recurrent inflammation affects skin, joints, and serosal membranes, requiring early clinical recognition, especially in pediatric patients.
• Skin manifestations are key indicators for prompt diagnosis of these rare genetic disorders.

Purpose of the Study:

• To review the pathophysiology of auto-inflammatory diseases.
• To detail the main dermatological presentations of auto-inflammatory recurrent fevers.
• To provide a decision tree for genetic testing in patients with recurrent fevers and skin symptoms.

Main Methods:

• Physiopathological review of auto-inflammatory diseases.
• Classification of dermatological manifestations associated with recurrent fevers.
• Development of a clinical decision support tool for genetic testing.

Main Results:

• Auto-inflammatory diseases stem from innate immunity dysfunction.
• Common dermatological presentations include urticarial lesions, neutrophilic dermatoses, panniculitis, maculopapular eruptions, dyskeratosis, vasculitis, and oral aphthae.
• A decision tree is proposed to guide genetic testing based on clinical presentation.

Conclusions:

• Early diagnosis of auto-inflammatory diseases is crucial, particularly in pediatrics, to prevent severe complications.
• Skin manifestations are vital clues for identifying patients with auto-inflammatory conditions.
• The proposed decision tree can assist clinicians in selecting appropriate genetic tests for recurrent fevers with dermatological signs.