Vulvar Crohn's disease in children: Diagnostic challenges and therapeutic implications from a literature review

Vulvar Crohn's disease (CD) is a rare and frequently under-recognised extraintestinal manifestation in children and may precede gastrointestinal symptoms, leading to significant diagnostic delays. We report the case of a 13-year-old girl with a 3-year history of chronic vulvar swelling, erythema, and fissures, initially misdiagnosed despite extensive investigations. Vulvar biopsy ultimately revealed non-caseating granulomatous dermatitis consistent with metastatic CD, and a subsequent endoscopic evaluation confirmed colonic CD. Due to severe and refractory vulvar involvement, treatment with anti-tumour necrosis factor-α (anti-TNF-α) therapy was required, with dose intensification necessary to achieve disease control. Furthermore, we performed a narrative review of the literature and identified 56 paediatric cases of vulvar CD. In most patients, vulvar manifestations preceded the diagnosis of intestinal disease and were frequently independent of gastrointestinal disease activity. Vulvar swelling was the most common presentation, often painless and isolated. Diagnosis was based on a combination of clinical, endoscopic, radiological, and histological findings. Gastrointestinal evaluation played a central role, while pelvic magnetic resonance imaging was essential to exclude contiguous fistulising disease. Vulvar biopsy was performed in most cases but may not be required when CD is confirmed endoscopically and alternative diagnoses have been excluded. Reported treatment ranged from topical therapies and antibiotics to systemic immunomodulators and biologics, with frequent need for escalation to anti-TNF-α therapy in refractory cases. Early recognition and a multidisciplinary approach are essential to prevent irreversible tissue damage and optimise long-term outcomes in affected children.