1. Neurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour
- Author
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Raymond Fueng-Hin Liang, Cora Yuk-Ping Chau, and Wee Chian Lim
- Subjects
neurofibromatosis type 1 ,gastrointestinal stromal tumour ,gastrointestinal bleeding ,capsule endoscopy ,double balloon endoscopy ,Diseases of the digestive system. Gastroenterology ,RC799-869 - Abstract
Introduction: Gastrointestinal stromal tumours (GISTs) are an important, though uncommon, cause of obscure gastrointestinal bleeding and may rarely be associated with genodermatoses such as neurofibromatosis type 1 (NF1). NF1-related GISTs have unique phenotypic features compared with sporadic GISTs and may elude diagnosis due to their predilection for the small bowel. Case Presentation: We report a case of a 45-year-old Singaporean woman with café-au-lait macules and cutaneous neurofibromas who presented with occult obscure gastrointestinal bleeding and was eventually discovered to have a bleeding jejunal GIST. This finding, considered together with her cutaneous signs, eventually led to the diagnosis of NF1. Conclusion: Genodermatoses and their gastrointestinal complications are likely under-reported in adult Southeast Asian populations and deserve greater awareness from gastroenterologists practising in this region.
- Published
- 2024
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