Genital Crohn's disease in pediatrics and genetic associations

Area of Science:

• Gastroenterology
• Dermatology
• Genetics

Background:

• Metastatic Crohn's disease (MCD) is a rare extraintestinal manifestation of Crohn's disease (CD).
• Genital edema, specifically penoscrotal swelling, is an uncommon presentation of MCD.
• MCD can present before, during, or after the onset of gastrointestinal symptoms, complicating diagnosis.

Purpose of the Study:

• To characterize the clinical features, disease course, and outcomes of patients with MCD presenting with genital edema.
• To investigate the potential pathogenetic mechanisms, including genetic factors, involved in MCD.
• To inform timely diagnosis and management strategies for this rare condition.

Main Methods:

• Retrospective review of four patients diagnosed with metastatic Crohn's disease (MCD) manifesting as genital edema.
• Analysis of clinical presentations, including painful and painless penoscrotal swelling with or without erythema.
• Histopathological examination of scrotal tissue and genetic testing for pathogenic variants.

Main Results:

• Patients presented with varying degrees of penoscrotal swelling and erythema.
• Scrotal histopathology confirmed granulomatous inflammation.
• Genetic testing revealed pathogenic variants in NOD2, COL7A1, and Chek2, alongside variants of uncertain significance.

Conclusions:

• Genital edema is a rare but significant presentation of metastatic Crohn's disease.
• Granulomatous inflammation and specific genetic variants may play a role in MCD pathogenesis.
• Treatment responses to antibiotics, steroids, biologics, and methotrexate were mixed, highlighting the need for further research and clinical trials.