Neurofibromatosis type 1 presenting as bleeding jejunal gastrointestinal stromal tumour
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...
| Main Authors: | , , |
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| Format: | Journal Article |
| Language: | English |
| Published: |
2024
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| Online Access: | https://hdl.handle.net/10356/179736 |
| _version_ | 1811678792113979392 |
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| author | Liang, Raymond Fueng-Hin Chau, Cora Yuk-Ping Lim, Wee Chian |
| author2 | Lee Kong Chian School of Medicine (LKCMedicine) |
| author_facet | Lee Kong Chian School of Medicine (LKCMedicine) Liang, Raymond Fueng-Hin Chau, Cora Yuk-Ping Lim, Wee Chian |
| author_sort | Liang, Raymond Fueng-Hin |
| collection | NTU |
| description | 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. |
| first_indexed | 2024-10-01T02:58:53Z |
| format | Journal Article |
| id | ntu-10356/179736 |
| institution | Nanyang Technological University |
| language | English |
| last_indexed | 2024-10-01T02:58:53Z |
| publishDate | 2024 |
| record_format | dspace |
| spelling | ntu-10356/1797362024-08-25T15:38:05Z Neurofibromatosis type 1 presenting as bleeding jejunal gastrointestinal stromal tumour Liang, Raymond Fueng-Hin Chau, Cora Yuk-Ping Lim, Wee Chian Lee Kong Chian School of Medicine (LKCMedicine) Tan Tock Seng Hospital Medicine, Health and Life Sciences Capsule endoscopy Double balloon endoscopy 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 version 2024-08-20T02:11:09Z 2024-08-20T02:11:09Z 2024 Journal Article Liang, R. F., Chau, C. Y. & Lim, W. C. (2024). Neurofibromatosis type 1 presenting as bleeding jejunal gastrointestinal stromal tumour. Case Reports in Gastroenterology, 18(1), 299-305. https://dx.doi.org/10.1159/000538688 1662-0631 https://hdl.handle.net/10356/179736 10.1159/000538688 38895585 2-s2.0-85196726940 1 18 299 305 en Case Reports in Gastroenterology © 2024 The Author(s). Published by S. Karger AG, Basel. This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. application/pdf |
| spellingShingle | Medicine, Health and Life Sciences Capsule endoscopy Double balloon endoscopy Liang, Raymond Fueng-Hin Chau, Cora Yuk-Ping Lim, Wee Chian Neurofibromatosis type 1 presenting as bleeding jejunal gastrointestinal stromal tumour |
| title | Neurofibromatosis type 1 presenting as bleeding jejunal gastrointestinal stromal tumour |
| title_full | Neurofibromatosis type 1 presenting as bleeding jejunal gastrointestinal stromal tumour |
| title_fullStr | Neurofibromatosis type 1 presenting as bleeding jejunal gastrointestinal stromal tumour |
| title_full_unstemmed | Neurofibromatosis type 1 presenting as bleeding jejunal gastrointestinal stromal tumour |
| title_short | Neurofibromatosis type 1 presenting as bleeding jejunal gastrointestinal stromal tumour |
| title_sort | neurofibromatosis type 1 presenting as bleeding jejunal gastrointestinal stromal tumour |
| topic | Medicine, Health and Life Sciences Capsule endoscopy Double balloon endoscopy |
| url | https://hdl.handle.net/10356/179736 |
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