Genital Crohn's disease in pediatrics and genetic associations

Genital edema is a rare presentation of Crohn's disease (CD), also known as metastatic CD (MCD). This may precede, co-occur with, or follow gastrointestinal symptoms and present a diagnostic challenge. We aimed to characterize the features, clinical courses, pathogenesis, and outcomes of patients with MCD to increase understanding and promote timely management. A retrospective review of four patients diagnosed with MCD was conducted at Phoenix Children's and Children's Hospital Colorado. Patients presented with painful and painless penoscrotal swelling with and without erythema. Scrotal histopathology revealed granulomatous inflammation, and genetic testing identified pathogenic variants in NOD2, COL7A1, and Chek2, as well as additional variants of uncertain significance. Treatments included antibiotics, steroids, biologics, and methotrexate with mixed responses. Further research and clinical trials are needed to better understand the pathogenesis and develop best practices.