Neurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour
In: Case Reports in Gastroenterology, Jg. 18 (2024), Heft 1, S. 299-305
Online
academicJournal
Zugriff:
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.
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Neurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour
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Autor/in / Beteiligte Person: | Raymond Fueng-Hin Liang ; Cora Yuk-Ping Chau ; Wee Chian Lim |
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Zeitschrift: | Case Reports in Gastroenterology, Jg. 18 (2024), Heft 1, S. 299-305 |
Veröffentlichung: | Karger Publishers, 2024 |
Medientyp: | academicJournal |
ISSN: | 1662-0631 (print) |
DOI: | 10.1159/000538688 |
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