Skin involvement in rare monogenic autoinflammatory diseases. Part 2

Autoinflammatory diseases (AIDs) represent a heterogeneous group of conditions pathogenetically associated with dysregulation of the innate immune system and clinically characterized by recurrent episodes of sterile inflammation in the affected organs in the absence of infection, allergy, and high titers of circulating autoantibodies or autoreactive T cells. The spectrum of genetically determined AIDs is quite diverse and continues to expand. Cutaneous manifestations are among the key components of AIDs and often serve as an important clue to diagnosis. This applies both to the classical, most extensively studied monogenic AIDs (mAIDs) and to more rare and less familiar forms of AIDs.
Part 1 of the article presented the characteristics of skin manifestations in classical mAIDs (Familial Mediterranean Fever, FMF; Cryopyrin-Associated Periodic Syndromes, CAPS; Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, TRAPS; Hyper-IgD Syndrome / Mevalonate Kinase Deficiency, HIDS/MKD). Part 2 focuses on patterns of skin involvement in more rare mAIDs, whose pathogenesis is based not only on interleukin-1 activation but also on alternative disease mechanisms, including activation of interferon signaling pathways (interferonopathies) and neutrophilic dermatoses. Diagnostic assessment is greatly facilitated not only by knowledge and correct interpretation of specific cutaneous manifestations in AIDs but also by consideration of characteristic histological markers identified through pathology examination of the skin. Close collaboration between rheumatologists and dermatologists enables timely diagnosis and initiation of targeted therapy.

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