影响头颈部皮肤和黏膜的遗传性皮肤病：临床病理、遗传及分子学方面——PTEN错构瘤综合征/考登综合征
Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome.
作者信息
Nosé Vania
机构信息
Harvard Medical School, Boston, MA, USA.
Massachusetts General Hospital, Boston, MA, USA.
出版信息
Head Neck Pathol. 2016 Jun;10(2):131-8. doi: 10.1007/s12105-016-0708-7. Epub 2016 Mar 14.
Abstract
PTEN hamartoma tumor syndrome refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Cowden syndrome, the principal PTEN-related disorder is characterized by multiple neoplasms and hamartomas, mucosal papillomatosis, and skin lesions, trichilemmomas. Trichilemmomas and mucocutaneous papillomatous papules are one of the first signs of the disease. Early recognition of these skin lesions may help on diagnosing an underlying malignancy and early cancer screening.
摘要
PTEN错构瘤肿瘤综合征是指由磷酸酶和张力蛋白同源物（PTEN）基因突变引起的一系列疾病。考登综合征是主要的PTEN相关疾病，其特征为多发性肿瘤和错构瘤、黏膜乳头状瘤病以及皮肤病变（毛鞘瘤）。毛鞘瘤和皮肤黏膜乳头状丘疹是该疾病的早期症状之一。早期识别这些皮肤病变可能有助于诊断潜在的恶性肿瘤并进行早期癌症筛查。
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