{Reference Type}: Case Reports
{Title}: Neurofibromatosis Type 1 Presenting as Bleeding Jejunal Gastrointestinal Stromal Tumour.
{Author}: Fueng-Hin Liang R;Chau CY;Lim WC;
{Journal}: Case Rep Gastroenterol
{Volume}: 18
{Issue}: 1
{Year}: 2024 Jan-Dec
暂无{DOI}: 10.1159/000538688
{Abstract}: <B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>Genodermatoses and their gastrointestinal complications are likely under-reported in adult Southeast Asian populations and deserve greater awareness from gastroenterologists practising in this region.