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  • Presentation

When is Eczema a Sign of Genodermatoses or Immunodeficiency?

Description

Lisa Swanson presents a discussion on genodermatoses and immunodeficiencies related to eczema through five clinical cases, aiming to clarify diagnosis in a fun and engaging manner. She discusses IPEX, Netherton syndrome, Wiscott-Aldrich syndrome, OMEN syndrome, and Hyper IgE syndrome, highlighting their distinct clinical features, diagnostic clues, and treatment options. The first case, an infant with eczema and diabetes, introduces IPEX, characterized by autoimmune conditions. The second case describes a boy with dermatitis and eyebrow loss, suggesting Netherton syndrome. The third case features Wiscott-Aldrich in a toddler with infections and bleeding issues. OMEN syndrome is discussed in the fourth case regarding a neonate with erythroderma and immunological abnormalities. Finally, Hyper IgE syndrome is presented as a possible diagnosis for an infant with severe eczema and a history of infections. Throughout, Swanson incorporates trivia about San Diego for engagement, emphasizing the importance of history and physical examinations in diagnosing these rare genetic disorders. She concludes with pointers on laboratory investigations for suspected cases of immunodeficiency, aiming to enhance understanding and identify concerning skin conditions effectively.

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Conclusions

  • Eczematous dermatitis in children may indicate underlying genodermatoses or immunodeficiencies.
  • IPEX syndrome is characterized by early onset dermatitis and necessitates stem cell transplant for treatment.
  • Netherton syndrome presents with ichthyosis linearis circumflexa and may benefit from medications like Dupixent and Cosentyx.
  • Wiskott-Aldrich syndrome is marked by eczema, thrombocytopenia, and autoimmune diseases, primarily affecting males.
  • OMENN syndrome presents as a rare combined immunodeficiency needing early stem cell transplant due to its life-threatening nature.
  • Hyper IgE syndrome, also known as Job syndrome, features recurrent skin infections, high serum IgE levels, and requires ongoing anti-staph prophylaxis for management.
  • Pichard et al. "Primary Immunodeficiency Update I: Syndromes Associated with Eczematous Dermatitis." JAAD. 2015 Sept; 73(3): 355-364.