文献简介

出版社:Canadian Dermatology Association

作  者:Jenny Lau and Richard M. Haber

编  号:10.2310/7750.2012.12027

关键字:Familial Eruptive Syringomas | Case Report | Review

年  份:2013   点击量:868

文献摘要

Background: Syringomas are benign neoplasms of eccrine origin. A clinical variant is eruptive syringomas, which presents as firm, smooth, yellow to pigmented papules that appear as successive crops on the neck, axillae, chest, abdomen, and/or periumbilical region. To our knowledge, there are only 10 published reports of familial eruptive syringomas. Herein we describe the eleventh report of familial eruptive syringomas, review the literature on this unusual presentation, and suggest a novel classification of familial syringomas based on our literature review.

背景 汗管瘤是一种源于小汗腺的良性肿瘤。它的一种临床变体为发疹性汗管瘤,表现为相继出现在颈部、腋下、胸部、腹部和/或脐周区域的坚固、光滑、黄色到色素沉着性丘疹。据我们所知,仅有10例已发表的家族发疹性汗管瘤报道。在这里,我们描述了家族发疹性汗管瘤的第十一例报道,回顾了这种罕见临床症状的相关文献,并基于我们文献综述提出了家族汗管瘤的新分类。

Observations: We report two cases of eruptive syringoma within a family. Eruptive syringomas were widely distributed on the trunk of a healthy 16-year-old female and her 19-year-old brother. Both the 19-year-old man and his mother also had infraorbital syringomas.

观察 我们报道了一个家族中的两例发疹性汗管瘤。发疹性汗管瘤广泛分布于一位16岁的健康女性以及她19岁哥哥的身上。这位19岁男子和她的母亲也都患有眶周汗管瘤。

Conclusion: Familial eruptive syringomas are a rare clinical entity that is likely autosomal dominantly inherited. Future reports of this unusual condition may provide further insight into the etiology of familial syringomas, and genetic analysis of cases may enable the causative gene mutation to be determined.

结论:家族发疹性汗管瘤是一种罕见的临床症状,可能以常染色体遗传居多。这种异常情况的后续报道将会有助于我们进一步深入了解家族汗管瘤的病因学,并且这些病例的遗传分析也许能够确定致病基因的突变。