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A dermatologic perspective on autoinflammatory diseases.

Angelo Valerio Marzano1, Giovanni Damiani2, Giovanni Genovese2

  • 1Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Università degli Studi di Milano, Unità Operativa di Dermatologia, IRCCS Fondazione Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy. angelo.marzano@unimi.it.

Clinical and Experimental Rheumatology
|May 10, 2018
PubMed
Summary
This summary is machine-generated.

Autoinflammatory diseases involve abnormal innate immunity activation, causing aseptic inflammation. This review focuses on skin manifestations in cryopyrin-associated periodic syndromes, DIRA/DITRA, and PAPA syndrome.

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Area of Science:

  • Immunology
  • Dermatology
  • Genetics

Background:

  • Autoinflammatory diseases (AIDs) are characterized by innate immunity dysregulation.
  • Skin involvement is common in monogenic AIDs, presenting diverse lesions.
  • Mutations in single genes controlling innate immunity lead to inflammasome activation and IL-1β overexpression.

Purpose of the Study:

  • To review cutaneous manifestations of specific AIDs.
  • To explore the pathophysiology and histology of these skin conditions.
  • To highlight the role of IL-1β in autoinflammatory skin diseases.

Main Methods:

  • Literature review focusing on CAPS, DIRA/DITRA, and PAPA syndromes.
  • Analysis of pathomechanisms involving IL-1β and neutrophil recruitment.
  • Examination of histological and clinical features of cutaneous lesions.

Main Results:

  • Cryopyrin-associated periodic syndromes (CAPS) present with urticarial lesions.
  • Deficiency of IL-1 receptor antagonist (DIRA) and deficiency of IL-36 receptor antagonist (DITRA) show pustular lesions.
  • Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome features pyoderma gangrenosum, a neutrophil-mediated ulcerative skin disease.

Conclusions:

  • IL-1β is a key mediator in the pathogenesis of CAPS, DIRA/DITRA, and PAPA syndromes.
  • Distinct autoinflammatory syndromes have characteristic skin manifestations.
  • Understanding these AIDs aids in diagnosis and management of associated cutaneous conditions.