Panday S C, Go I H, Mravunac M, de Koning R W
Department of Internal Medicine, Canisius Wilhelmina Hospital, Nijmegen, Netherlands.
Neth J Med. 1993 Oct;43(3-4):116-20.
A young male patient was referred for endoscopic resection of a recto-sigmoid polyp and abdominal complaints. His medical history revealed a sebaceous adenoma resection from his back and a tubular adenoma excision from his right upper eyelid. After disclosure of a jejunal tumour on a small bowel enema and given the remarkable family history characterized by the frequent occurrence of bowel cancer, the diagnosis of Muir-Torre syndrome was established. This syndrome pertains to the combination of sebaceous gland tumours/adenomas in combination with gastrointestinal or genitourinary tract tumours. Inheritance takes place in an autosomal dominant manner. It usually occurs in males at an early age. Given its low malignancy potential, early detection of the syndrome renders a favourable prognosis. Careful examination and follow-up also involving the small intestine are mandatory for patients and relatives.
一名年轻男性患者因直肠乙状结肠息肉内镜切除及腹部不适前来就诊。他的病史显示曾行背部皮脂腺腺瘤切除术及右上眼睑管状腺瘤切除术。在小肠灌肠检查发现空肠肿瘤后，鉴于其家族病史以结肠癌频繁发作为显著特征，遂确诊为穆尔-托雷综合征。该综合征是指皮脂腺肿瘤/腺瘤与胃肠道或泌尿生殖道肿瘤同时存在。其遗传方式为常染色体显性遗传。通常在男性中发病较早。鉴于其恶性潜能较低，早期发现该综合征预后良好。对患者及其亲属进行仔细检查并随访，包括小肠检查，是必不可少的。
