Content » Vol 100, 100-year theme: Genodermatoses (March)


Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms

Hanna Bonnekoh, Monique Butze, Tilmann Kallinich, Naotomo Kambe, Georgios Kokolakis, Karoline Krause
DOI: 10.2340/00015555-3427


Autoinflammatory diseases comprise a group of chronic disabling entities characterized by inflammation without the presence of infectious agents, auto-antibodies or antigen-specific T-cells. Many autoinflammatory diseases are caused by monogenic defects, which lead to disturbed immune signalling with release of proinflammatory mediators. In addition to interleukin-1β and interleukin-18, interferons play a key role in the pathophysiology of these disorders. Patients with autoinflammatory diseases show a broad variety of clinical symptoms, including skin involvement. Wheals, pustules and ulcerative lesions are the most common cutaneous findings observed. Knowledge of the clinical presentation of autoinflammatory diseases is crucial for establishing the diagnosis and guiding appropriate treatment. This review focuses on the dermatological findings in selected autoinflammatory disorders based on their distinct pathomechanisms.


Autoinflammatory diseases are rare disabling disorders characterized by excessive inflammation of the skin and inner organs. Many autoinflammatory diseases are caused by genetic defects, which subsequently result in disturbed immune signalling. In the skin, wheals, pustules and ulcerative lesions dominate. As autoinflammatory diseases are associated with a high burden and limited awareness, knowledge of their clinical presentation is crucial for establishing the diagnosis and guiding appropriate treatment.

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