Neurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour

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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.

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource
Language
Englisch

Bibliographic citation
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)

Creator
Liang, Raymond Fueng-Hin
Chau, Cora Yuk-Ping
Lim, Wee Chian

DOI
10.1159/000538688
URN
urn:nbn:de:101:1-2406270052248.173393771118
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 10:52 AM CEST

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Associated

  • Liang, Raymond Fueng-Hin
  • Chau, Cora Yuk-Ping
  • Lim, Wee Chian

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