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Monogenic autoinflammatory syndromes at a dermatological level.

Donato Rigante1, Luca Cantarini

  • 1Department of Pediatric Sciences, Università Cattolica Sacro Cuore, Largo A. Gemelli, 8, 00168, Rome, Italy. drigante@gmail.com

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Monogenic autoinflammatory syndromes are rare genetic disorders causing recurrent inflammation. Recognizing their skin signs is crucial for early diagnosis and preventing damage.

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Area of Science:

  • Immunology
  • Genetics
  • Dermatology

Background:

  • Autoinflammatory syndromes are characterized by unprovoked systemic inflammation.
  • They lack autoantibodies and autoreactive T-cells, indicating innate immunity dysregulation.
  • These conditions are typically monogenic with Mendelian inheritance patterns.

Purpose of the Study:

  • To enhance clinician recognition of monogenic autoinflammatory syndromes, particularly among dermatologists.
  • To highlight the dermatological manifestations associated with these syndromes.
  • To emphasize the importance of early diagnosis and treatment for preventing irreversible damage.

Main Methods:

  • This is a review article.
  • It synthesizes current knowledge on monogenic autoinflammatory syndromes and their cutaneous features.
  • The review focuses on specific conditions like familial Mediterranean fever and cryopyrin-associated periodic syndromes.

Main Results:

  • Monogenic autoinflammatory syndromes can present with diverse dermatological manifestations.
  • Cutaneous signs are often prominent or the initial presenting feature.
  • Examples include familial Mediterranean fever, mevalonate kinase deficiency syndrome, and cryopyrin-associated periodic syndromes.

Conclusions:

  • Early recognition of cutaneous signs is key to diagnosing monogenic autoinflammatory syndromes.
  • Prompt diagnosis and treatment can prevent long-term irreversible damage.
  • Dermatologists play a vital role in identifying these rare genetic disorders.