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家族性发疹性汗管瘤:病例报告及文献复习。

Familial eruptive syringomas: case report and review of the literature.

机构信息

Faculty of Medicine and the Division of Dermatology, University of Calgary, Calgary, AB.

出版信息

J Cutan Med Surg. 2013 Mar-Apr;17(2):84-8. doi: 10.2310/7750.2012.12027.

Abstract

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.

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.

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.

摘要

背景

汗管瘤是一种源于外分泌腺的良性肿瘤。一种临床变异型为发疹性汗管瘤,其表现为坚实、光滑、黄色至色素沉着的丘疹,呈连续批次出现在颈部、腋窝、胸部、腹部和/或脐周区域。据我们所知,仅有 10 篇关于家族性发疹性汗管瘤的文献报道。在此,我们描述了第 11 例家族性发疹性汗管瘤病例,并回顾了该罕见表现的文献,根据我们的文献复习,提出了一种家族性汗管瘤的新分类。

观察结果

我们报告了一个家庭中 2 例发疹性汗管瘤病例。发疹性汗管瘤广泛分布于 16 岁健康女性和她 19 岁哥哥的躯干上。这名 19 岁男性和他的母亲也有眶周汗管瘤。

结论

家族性发疹性汗管瘤是一种罕见的临床实体,可能为常染色体显性遗传。这种不寻常疾病的未来报告可能进一步深入了解家族性汗管瘤的病因,对病例进行基因分析可能有助于确定致病基因突变。

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