2017 Volume 64 Issue 1.2 Pages 25-27
Summary: Concomitant association of histologically proven inflammatory bowel disease (IBD) and neurofibromatosis type 1 (NF1) is a rare finding documented in only 5 adult clinical cases. A 34-year-old woman with known neurofibromatosis was admitted to our department with a 6-month history of intractable bloody diarrhea and abdominal pain. After a thorough clinical examination and paraclinical assessments, including colonoscopy and biopsy, ulcerative colitis (UC) was confirmed as the cause of gastrointestinal bleeding. NF1 is considered an autosomal dominant condition caused by mutations in the NF1 gene, which is located on chromosome 17q11.2 [1]. A wide variety of NF1 mutations have been found in patients with NF1, but no frequently recurring mutation has been identified. Since the pathogenesis of IBD is also associated with genetic make-up, these two entities may be associated with a genetic factor.
