A Vexing Problem: Genetic Diseases are Not Just for Kids

The presentation discusses four genetic diseases that can manifest later in life rather than during childhood. The speaker elaborates on the case of a 23-year-old woman exhibiting recalcitrant warts and other symptoms, leading to a suspicion of a genetic disorder known as GATA2 deficiency, which is characterized by immunodeficiency and related complications. The disease presents with a wide range of symptoms and is often linked to HPV infections and familial histories of myelodysplasia. The talk highlights the late-onset nature of certain genetic diseases, especially primary immunodeficiencies like GATA2 deficiency, where symptoms may not appear until later in life. Key skin features and other diagnostic clues are emphasized to aid in recognizing these conditions. Additionally, the speaker introduces VEXAS syndrome, a recently identified autoinflammatory disorder primarily affecting older males, characterized by a variety of systemic and skin manifestations, including potential risks like thrombosis. The talk emphasizes the importance of careful diagnosis and examination to uncover these lesser-known genetic diseases that can lead to significant health issues if overlooked, particularly in adult patients.