Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms
| Autor: | Hanna Bonnekoh, Georgios Kokolakis, Naotomo Kambe, Karoline Krause, Monique Butze, Tilmann Kallinich |
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| Rok vydání: | 2020 |
| Předmět: |
Dermatological findings
medicine.medical_specialty Sarcoidosis Inflammation Dermatology Proinflammatory cytokine Uveitis Immune system Humans Medicine genetics Synovitis Phospholipase C gamma business.industry Arthritis Hereditary Autoinflammatory Diseases Immunologic Deficiency Syndromes Interleukin-18 Skin Diseases Genetic interferon General Medicine Cryopyrin-Associated Periodic Syndromes Pathophysiology Familial Mediterranean Fever Interleukin 1 Receptor Antagonist Protein RL1-803 autoinflammatory Interferons medicine.symptom business interleukin-1 Autoinflammatory Disorders |
| Zdroj: | Acta Dermato-Venereologica, Vol 100, Iss 7, p adv00091 (2020) |
| ISSN: | 1651-2057 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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