Schwartz R A, Torre D P
UMD New Jersey Medical School, Newark, NJ 07103-2714, USA.
J Am Acad Dermatol. 1995 Jul;33(1):90-104. doi: 10.1016/0190-9622(95)90017-9.
The Torre or Muir-Torre syndrome consists of certain types of sebaceous neoplasms of the skin, with or without keratoacanthomas, and one or more low-grade visceral malignancies in the absence of other predisposing factors. The sebaceous tumors are relatively uncommon or rare: sebaceous adenoma, sebaceous epithelioma, basal cell epithelioma with sebaceous differentiation, and sebaceous carcinoma. Sebaceous hyperplasia and hamartomas such as nevus sebaceus of Jadassohn, with or without a sebaceous epithelioma within it, are not a defining part of this syndrome. Sebaceous hyperplasia is common in elderly light-complexioned people with or without this syndrome. Nevus sebaceus of Jadassohn is not rare and is predisposed to the development of other neoplasms within it, including occasionally a sebaceous epithelioma. Colonic polyps are frequently present. Muir-Torre syndrome requires recognition because affected patients are at risk of multiple primary malignancies. The skin lesions may be the first sign of this syndrome, although more often its cutaneous signs follow the diagnosis of at least the first visceral malignancy. The Muir-Torre syndrome portends the greater possibility of a favorable prognosis than might be anticipated otherwise because the visceral cancers are usually low-grade malignancies. However, they are often multiple, so identifying such patients will affect their management in a few ways. Because these indolent visceral malignancies tend to permit prolonged survival, even metastatic disease may respond well to aggressive surgical treatment. The sebaceous cancers in this syndrome, like the visceral malignancies, are less aggressive than their counterparts unassociated with this syndrome. Because this syndrome is inherited in an autosomal dominant manner, identifying one patient means delineating an entire family, which should be investigated. This syndrome may be caused by a defective mismatch DNA repair gene.
托雷或缪尔-托雷综合征由某些类型的皮肤皮脂腺肿瘤组成，伴有或不伴有角化棘皮瘤，且在无其他易感因素的情况下出现一种或多种低级别内脏恶性肿瘤。皮脂腺肿瘤相对不常见或罕见，包括皮脂腺腺瘤、皮脂腺上皮瘤、具有皮脂腺分化的基底细胞上皮瘤以及皮脂腺癌。皮脂腺增生和错构瘤，如 Jadassohn 皮脂腺痣，无论其中是否伴有皮脂腺上皮瘤，均不是该综合征的决定性组成部分。皮脂腺增生在有或无此综合征的老年浅色皮肤人群中很常见。Jadassohn 皮脂腺痣并不罕见，且易发生其中的其他肿瘤，偶尔包括皮脂腺上皮瘤。结肠息肉也经常出现。缪尔-托雷综合征需要被识别，因为受影响的患者有发生多种原发性恶性肿瘤的风险。皮肤病变可能是该综合征的首发症状，尽管更常见的情况是其皮肤体征在至少首个内脏恶性肿瘤被诊断之后出现。缪尔-托雷综合征预示着比预期更好的预后可能性，因为内脏癌症通常是低级别恶性肿瘤。然而，它们往往是多发 的，因此识别这类患者会在几个方面影响其治疗。由于这些惰性内脏恶性肿瘤往往能使患者长期存活，即使是转移性疾病对积极的手术治疗也可能反应良好。该综合征中的皮脂腺癌与内脏恶性肿瘤一样，比与该综合征无关的同类肿瘤侵袭性小。由于该综合征以常染色体显性方式遗传，识别出一名患者意味着要对整个家族进行排查，应对其进行调查。该综合征可能由有缺陷的错配 DNA 修复基因引起。
