Fistarol Susanna K, Anliker Marc D, Itin Peter H
Department of Dermatology, University Hospital Basel, Petersgraben 4, 4031 Basel, Switzerland.
Eur J Dermatol. 2002 Sep-Oct;12(5):411-21.
Cowden disease (CD) #158350, also known as multiple hamartoma syndrome, is a multisystemic cancer predisposition disorder, inherited in an autosomal dominant pattern. Mucocutaneous lesions are the most constant features: facial papules, acral keratoses and oral papillomatosis. The most common associated cancers are breast, thyroid and endometrial carcinomas. The CD gene locus has been mapped to chromosome 10q22-23. Subsequently the tumor suppressor gene PTEN was located to this chromosomal region and soon after germline mutations in the PTEN gene were demonstrated in CD patients. Somatic PTEN mutations have been found in a variety of sporadic cancers. So CD is an important clinical and genetic model for carcinogenesis. We recently observed four cases of CD and reviewed the literature on CD over the last 40 years, in particular the clinical and histopathological features, genetics, and diagnostic criteria. Based on these data we propose a possible management of CD patients. With increased knowledge and awareness of the typical mucocutaneous lesions an earlier diagnosis and an appropriate cancer surveillance of these patients might be possible.
考登病（CD）#158350，也称为多发性错构瘤综合征，是一种多系统癌症易感性疾病，呈常染色体显性遗传模式。皮肤黏膜病变是最常见的特征：面部丘疹、肢端角化病和口腔乳头瘤病。最常见的相关癌症是乳腺癌、甲状腺癌和子宫内膜癌。CD基因位点已被定位到染色体10q22 - 23。随后，肿瘤抑制基因PTEN被定位到该染色体区域，不久后在CD患者中证实了PTEN基因的种系突变。在多种散发性癌症中发现了体细胞PTEN突变。因此，CD是癌症发生的重要临床和遗传模型。我们最近观察了4例CD病例，并回顾了过去40年关于CD的文献，特别是临床和组织病理学特征、遗传学及诊断标准。基于这些数据，我们提出了对CD患者可能的管理方法。随着对典型皮肤黏膜病变的认识和了解增加，这些患者可能实现更早诊断和适当的癌症监测。
