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[弹性假黄瘤:22例病例研究]

[Pseudoxanthoma elasticum: a study of 22 cases].

作者信息

Hammami H, Badri T, Benmously R, Kenani N, Sliti N, Mokhtar I, Fenniche S

机构信息

Service de Dermatologie, Hôpital Habib Thameur, Tunis, Tunisie.

出版信息

Rev Med Liege. 2009 Dec;64(12):629-32.

Abstract

Pseudoxanthoma elasticum is a heritable connective-tissue disorder affecting the eye, skin, and vascular system. The aim of our study was to specify the epidemiological and clinical characteristics of this disease in a hospital series. A total of 22 patients were included during a period of 19 years. There were 15 women and 7 men. Patient's mean age was of 36,1 years. Parental inbreeding was reported in 10 cases. However, the parents were apparently healty. All patients exhibited cutaneous signs. The association between pseudoxanthoma elasticum and elastosis perforans serpiginosa was reported in two cases. The histological features were characteristic in all cases. The ophthalmologic examination realized on 13 patients revealed angioid streaks in 6 cases and a orange peel aspect in one case. Cardiac evaluation performed in 11 patients did not reveal specific PXE abnormalities. A follow-up was recommended in the majority of the cases. In conclusion, a family history of PXE was frequently reported in our study mainly among brothers and sisters. The disease was probably of autosomal recessive transmission. Cutaneous lesions were often the first signs. A list of laboratory investigations is useful to search for asymptomatic visceral localizations and specify their frequency.

摘要

弹性假黄瘤是一种遗传性结缔组织疾病,影响眼睛、皮肤和血管系统。我们研究的目的是明确该疾病在一组住院病例中的流行病学和临床特征。在19年期间共纳入了22例患者。其中有15名女性和7名男性。患者的平均年龄为36.1岁。10例报告有近亲结婚。然而,其父母表面上健康。所有患者均有皮肤体征。2例报告了弹性假黄瘤与匐行性穿通性弹力纤维病之间的关联。所有病例的组织学特征均具有特异性。对13例患者进行的眼科检查显示,6例有血管样条纹,1例有橘皮样外观。对11例患者进行的心脏评估未发现弹性假黄瘤的特异性异常。大多数病例建议进行随访。总之,在我们的研究中,弹性假黄瘤的家族史经常被报告,主要发生在兄弟姐妹之间。该疾病可能为常染色体隐性遗传。皮肤病变往往是首发症状。一系列实验室检查有助于发现无症状的内脏病变并明确其发生率。

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