患者男,14岁。3岁时排便有小肿物从肛门脱出,在当地医院切除4～5岁时,发现口唇有黑色斑点,不痛不痒。9岁后,大便时有带血,鲜红,量不多,来我院就诊。经纤维结肠镜检查发现结肠息肉,曾电灼2次。同时发现距网盲部3～5cm升结肠处有3×3cm大小短蒂息肉,周围有多发小息肉,收住院治疗。家族无类似疾病。查体:口唇、颊粘膜、手指,足趾有多数散在黑斑,直径约1～3mm大小,不突出皮肤。钡灌肠:结肠,盲肠均充盈,回盲辦未显影,充气造影可见升结肠下 Male patient, 14 years old. At the age of 3, there was a small mass of bowel movements from the anus. When he was excised at the local hospital for 4 to 5 years old, he found that the lips had black spots and was superficial. After 9 years old, there was blood in the stool, bright red, and a small amount, to come to our hospital for treatment. Colon polyps were found by colonoscopy and had been electrocoagulated twice. At the same time, it was found that there was a 3×3 cm short pedunculated polyp at 3 to 5 cm from the blind part of the net, and there were multiple small polyps surrounding the net and received hospital treatment. There is no similar disease in the family. Physical examination: Lips, buccal mucosa, fingers, toes have mostly scattered dark spots, the size of about 1 ~ 3mm, does not highlight the skin. Barium enema: The colon and cecum are filled, the ileoceum is not developed, and the gastroenterography can be seen under the ascending colon.