家族性匐行性穿通性弹力纤维病
Familial elastosis perforans serpiginosa.
作者信息
Langeveld-Wildschut E G, Toonstra J, van Vloten W A, Beemer F A
机构信息
Department of Dermatology, University Hospital Utrecht, The Netherlands.
出版信息
Arch Dermatol. 1993 Feb;129(2):205-7.
BACKGROUND
Elastosis perforans serpiginosa (EPS) is an uncommon skin disease characterized by transepidermal elimination of abnormal elastic fibers. The disease is frequently associated with congenital connective tissue disorders or Down's syndrome. The pathogenesis of EPS is still unclear. There are a few reports in the literature about a familial occurrence of EPS in which different modes of inheritance are suggested. To support the hypothesis of a congenital origin of the disease, we have studied another family with EPS.
OBSERVATIONS
In this study, we describe a family in which two sisters and a brother were affected by EPS. The father and three paternal uncles were most probably affected by the same disease. There were no signs of other congenital connective tissue disease in the family members.
CONCLUSION
An autosomal dominant mode of inheritance with variable expression of EPS is suggested.
背景
匐行性穿通性弹力纤维病（EPS）是一种罕见的皮肤病，其特征为异常弹性纤维经表皮排出。该病常与先天性结缔组织疾病或唐氏综合征相关。EPS的发病机制仍不清楚。文献中有一些关于EPS家族性发病的报道，其中提出了不同的遗传方式。为支持该病先天性起源的假说，我们研究了另一个患EPS的家族。
观察结果
在本研究中，我们描述了一个家族，其中两姐妹和一个兄弟患有EPS。父亲和三个叔伯很可能患有同一种疾病。家族成员中没有其他先天性结缔组织疾病的迹象。
结论
提示EPS存在常染色体显性遗传模式且表现多样。
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