Neurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour
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.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Neurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour ; volume:18 ; number:1 ; year:2024 ; pages:299-305 ; extent:7
Case reports in gastroenterology ; 18, Heft 1 (2024), 299-305 (gesamt 7)
- Urheber
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Liang, Raymond Fueng-Hin
Chau, Cora Yuk-Ping
Lim, Wee Chian
- DOI
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10.1159/000538688
- URN
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urn:nbn:de:101:1-2406270052248.173393771118
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:52 MESZ
Datenpartner
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Beteiligte
- Liang, Raymond Fueng-Hin
- Chau, Cora Yuk-Ping
- Lim, Wee Chian
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