P206 Paediatric Genital Crohn’s Disease: Presentation and Treatment, a combined case series

Background Metastatic Crohn’s Disease (MCD) affecting the genitalia is a rare condition, characterised by granulomatous inflammation of the genital tract. Only few paediatric cases have been described in the literature with a female preponderance. Paucity of literature is noted with regards to treatment and outcome. Methods: Aim To describe the clinical presentation, associated features, and response to treatment in a cohort of paediatric patients diagnosed as genital metastatic Crohn’s disease (MCD). Methods All cases of paediatric genital MCD were retrospectively collected from two centres at Great Ormond Street Hospital for Children and Leeds Children’s Hospital for the past 20 years (January 2001 to January 2021). Medical history, symptoms at presentation, histological characteristics, results of investigations and response to treatment were reviewed. Results A total of 12 patients (7 male and 5 female) were diagnosed with genital MCD. The mean age at presentation of genital MCD symptoms was 8.9 years of age (1.5–14 years). Generalised swelling of the genital region was the most common presentation. 5/12 (42%) children had luminal Crohn’s disease (CD) before development of Genital MCD whereas 4/12 (33%) children developed luminal CD after Genital MCD presentation. 3/12 (25%) children after evaluation were found to have only Genital MCD with no luminal pathology of CD. Genital MCD was the first presentation of Crohn’s disease in 7/12 children (58.3%) in our cohort. 6/12(50%) children were seen to have perianal disease. All children were extensively investigated endoscopically and radiologically. Genital biopsy was done in 6/12(50%) patients showing non caseating granulomatous inflammation. 11/12 patients received dual therapy at some point in their treatment with azathioprine and infliximab. Switch of infliximab to adalimumab was seen in 7/12 (58.3%) patients mostly in view of escalating treatment to control luminal CD. Initiation of treatment since first symptoms of genital MCD appeared to be prolonged, perhaps due to delay in diagnosis via referral pathways from local paediatrician via urologist to paediatric gastroenterologist. Improvement of genital MCD was seen in most children with dual therapy of azathioprine and infliximab. Conclusion Genital MCD can be the first presentation of Crohn’s disease and may not be associated with GI symptoms or luminal CD. All children with MCD do benefit from histological as well as radiological and endoscopic evaluation. Formal MDT discussions with the urologist, radiologist and gastroenterologist may help in early diagnosis and treatment. A retrospective multi-centre case reviews will help to identify the prevalence of genital MCD in children and also help develop a national pathway.

Pediatric Metastatic Crohn's Disease

Crohn's disease (CD) is a chronic, relapsing, idiopathic condition, characterized by granulomatous, transmural inflammation of the gastrointestinal tract, which can affect its entire length, from mouth to anus. Metastatic Crohn's disease (MCD) is a rare form of skin involvement and is defined by skin lesions without contiguity with the gastrointestinal tract. A 9-year-old patient presented with gastrointestinal complaints and gross skin lesions in the vulva and perianal region. The diagnosis of Crohn's disease was made when the patient was 11 years old, after being evaluated by the colorectal surgeon. Treatment was started with a “top-down” approach, with a sustained response for four years. Afterwards, there was a relapse of the skin disease in previously normal areas, without overt symptoms. Treatment consisted of steroids and local infiltration of infliximab, without improvement. A year later, there was a rapid progression of the skin lesions, and the drug changed to adalimumab, also without response and worsening of the skin lesions. The patient was admitted to the hospital and intravenous steroids were initiated, along with surgical debridement of the lesions. After some improvement, ustekinumab was initiated with satisfactory response. Pediatric MCD has an important impact on the patient's quality of life, with influences on growth and social development.