Neurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour.

IF 0.5 Q4 GASTROENTEROLOGY & HEPATOLOGY Case Reports in Gastroenterology Pub Date : 2024-06-07 eCollection Date: 2024-01-01 DOI:10.1159/000538688

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

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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.

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神经纤维瘤病 1 型表现为出血性空肠胃肠道间质瘤。

导言：胃肠道间质瘤（GISTs）是导致隐匿性胃肠道出血的一个重要原因，尽管并不常见，但很少与1型神经纤维瘤病（NF1）等遗传性皮肤病有关。与散发性 GIST 相比，与 NF1 相关的 GIST 具有独特的表型特征，并且由于其偏爱小肠而可能无法确诊：我们报告了一例 45 岁的新加坡妇女的病例，她患有咖啡色斑块和皮肤神经纤维瘤，并伴有隐匿性消化道出血，最终被发现患有出血的空肠 GIST。考虑到这一发现以及她的皮肤症状，最终确诊为 NF1：结论：遗传性皮肤病及其胃肠道并发症在东南亚成年人群中的报告率可能偏低，值得在该地区执业的消化内科医生进一步关注。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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