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  • Presentation

Skinternal Medicine: An Update on Cutaneous Manifestations of Systemic Disease

Description

The speaker discusses recent advancements in understanding cutaneous manifestations of systemic diseases, particularly focusing on pediatric cases of systemic autoinflammatory diseases. Highlighting personal experiences with complex cases, the speaker emphasizes the importance of recognizing the skin's involvement in these diseases, which often present with overlapping features. Key case studies were presented, showcasing patients with various inflammatory skin conditions linked to underlying systemic issues. The talk explored the categories of autoinflammatory diseases based on their inflammatory mediators, including interleukin-1 beta, interferon-related, and nuclear factor Kappa B associated disorders, detailing their pathophysiology and common cutaneous features. The necessity for interdisciplinary collaboration in managing these rare conditions was noted, as well as the use of genetic testing and cytokine profiles to tailor treatment. The speaker concludes by reiterating the complexities in diagnosing these conditions, suggesting that dermatologists play a crucial role in identifying and managing skin-related symptoms of systemic diseases.

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Conclusions

  • Systemic autoinflammatory diseases are genetically inherited conditions that affect the innate immune system.
  • These diseases can cause diverse, non-specific inflammatory skin symptoms, making accurate diagnosis challenging.
  • A variety of clinical presentations, such as pernio, urticarial eruptions, and pustular rashes, may indicate underlying autoinflammatory conditions.
  • There are three major inflammatory mediators in these diseases: IL-1 beta, interferon-alpha/beta, and nuclear factor kappa beta (NF-kB).
  • Understanding these mediators facilitates targeted therapies and better management of symptoms.
  • Diagnostic access to genetic panels and cytokine profiles can significantly aid in the evaluation of suspected autoinflammatory diseases.
  • Due to the complexity of these disorders, a multidisciplinary approach involving collaboration between dermatology, rheumatology, and immunology is essential for effective management.
  • Paller, Amy, S. and Anthony J. Mancini. Paller and Mancini - Hurwitz Clinical Pediatric Dermatology. Available from: Elsevier eBooks+, (6th Edition). Elsevier - OHCE, 2021.
  • Aksentijevich, I ., et al. (2009). "An Autoinflammatory Disease with Deficiency of the Interleukin-1-Receptor Antagonist." New England Journal of Medicine 360(23): 2426-2437.
  • Braun-Falco M, Kovnerystyy O, Lohse P, Ruzicka T. Pyoderma gangrenosum, acne, and related suppurative hidradenitis (PASH) -- a new autoinflammatory syndrome distinct from PAPA syndrome. J Am Acad Dermatol. 2012 Mar;66(3):409-15. doi: 10.1016/j.jaad.2010.12.025. Epub 2011 Jul 13. PMID: 21745697.
  • Jiang, J ., Zhao, M ., Chang, C. et al. Type I Interferons in the Pathogenesis and Treatment of Autoimmune Diseases. Clinic Rev Allerg Immunol 59, 248-272 (2020).
  • Liu Y et al. Activated STING in a Vascular and Pulmonary syndrome. N Engl J Med 2014; 371:507-518. DOI:
  • Sun SC. The non-canonical NF-KB pathway in immunity and inflammation. Nat Rev Immunol. 2017 Sep;17(9):545-558. doi: 10.1038/nri.2017.52. Epub 2017 Jun 5. PMID: 28580957; PMCID: PMC5753586.
  • Chetaille Nézondet A-L, Poubelle PE, Pelletier M. The evaluation of cytokines to help establish diagnosis and guide treatment of autoinflammatory and autoimmune diseases. J Leukoc Biol. 2020; 108: 647-657.