case_images: PMC10615565_01
case_images: (A, B) Patient 1 had several skin lumps of various sizes on the back and abdomen, and there was a clear milk coffee stain that could be seen on the back. (C, D) Patient 2 has multiple irregular skin lumps, which are more pronounced than those of the mother.
case_images: fonc-13-1206991-g001.jpg
case_images: PMC10615565_02_fonc-13-1206991-g001.jpg
case_images: f1
case_images: Multiple skin masses were observed all over the body (refer to  Figure 1 ), with no yellowing of the skin or sclera.
case_images: The pedigree shows family members affected with GIST or NF-1. Members with only NF1 are marked with black boxes, while those who had both NF1 and GIST are marked with deviant crease lines. The arrow indicates the patient.
case_images: fonc-13-1206991-g002.jpg
case_images: PMC10615565_01_fonc-13-1206991-g002.jpg
case_images: f2
case_images: Her parents and three brothers did not have any similar skin or gastrointestinal manifestations ( Figure 2 ). Instead, she was discharged from the hospital two weeks after surgery, following symptomatic treatment including anti-infective, acid-suppressing and gastric protection, antispasmodic and analgesic, antiemetic, rehydration, and nutritional support ( Figure 2 ).
case_images: (A) Multiple surface tumors of the small intestine were observed during surgery (positive view). (B) Two large circular masses can be seen (backside view). (C) Surgical removal of a portion of the small intestine with a lump.
case_images: fonc-13-1206991-g003.jpg
case_images: PMC10615565_01_fonc-13-1206991-g003.jpg
case_images: f3
case_images: Intraoperative exploration revealed multiple masses in the jejunum ( Figure 3 ), leading to a partial resection of the jejunum, including the masses ( Figure 3 ).
case_images: (A) Pathological section of intestinal mass at 100x magnification, showing numerous spindle-shaped cells. (B) Intestinal mass: CD117(+). (C) Intestinal mass: CD34(+). (D) Intestinal mass: SDHB(+). (E) Intestinal mass: vimentin(+). (F) Patient 1: Postoperative pathological section of skin mass, 200x. (G) Pathological section of the daughter's skin tumor, 200x. (H) Three months later, a follow-up CT scan was performed, and the anastomosis was restored to normal. No liver metastasis was found.
case_images: fonc-13-1206991-g004.jpg
case_images: PMC10615565_02_fonc-13-1206991-g004.jpg
case_images: f4
case_images: A 1.5x1x0.5 cm skin mass on the abdominal wall was excised and sent for pathological examination, which revealed neurofibroma ( Figure 4 ).
case_images: PMC10615565_02
case_images: (A, B) Patient 1 had several skin lumps of various sizes on the back and abdomen, and there was a clear milk coffee stain that could be seen on the back. (C, D) Patient 2 has multiple irregular skin lumps, which are more pronounced than those of the mother.
case_images: fonc-13-1206991-g001.jpg
case_images: PMC10615565_02_fonc-13-1206991-g001.jpg
case_images: f1
case_images: Multiple skin masses were observed all over the body (refer to  Figure 1 ), with no yellowing of the skin or sclera.
case_images: (A) Pathological section of intestinal mass at 100x magnification, showing numerous spindle-shaped cells. (B) Intestinal mass: CD117(+). (C) Intestinal mass: CD34(+). (D) Intestinal mass: SDHB(+). (E) Intestinal mass: vimentin(+). (F) Patient 1: Postoperative pathological section of skin mass, 200x. (G) Pathological section of the daughter's skin tumor, 200x. (H) Three months later, a follow-up CT scan was performed, and the anastomosis was restored to normal. No liver metastasis was found.
case_images: fonc-13-1206991-g004.jpg
case_images: PMC10615565_02_fonc-13-1206991-g004.jpg
case_images: f4
case_images: A 1.5x1x0.5 cm skin mass on the abdominal wall was excised and sent for pathological examination, which revealed neurofibroma ( Figure 4 ).