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心脏颜面皮肤综合征(经典努南综合征的一种变异型)中的皮肤表现。1例报告并文献复习。

Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature.

作者信息

Weiss G, Confino Y, Shemer A, Trau H

机构信息

Department of Dermatology, Sheba Medical Center, Tel Hashomer, Israel.

出版信息

J Eur Acad Dermatol Venereol. 2004 May;18(3):324-7. doi: 10.1111/j.1468-3083.2004.00365.x.

Abstract

We report one patient with cardiofaciocutaneous (CFC) syndrome. He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread keratosis pilaris, a peculiar craniofacial appearance with sparse, curly hair and low-set posteriorly rotated ears; congenital heart defects; and mild mental and motor retardation. We submit a comprehensive review of previously published articles regarding the dermatological findings in CFC syndrome (recently shown to be a variant of Noonan syndrome) emphasizing diagnostic criteria and its differentiation from the Costello syndrome.

摘要

我们报告了一例患有心脏颜面皮肤综合征(CFC)的患者。他表现出了该病症的典型临床特征,如:皮肤异常,包括鱼鳞病、广泛的毛发角化病、具有稀疏卷曲头发和低位后旋耳的特殊颅面外观;先天性心脏缺陷;以及轻度的智力和运动发育迟缓。我们对先前发表的有关CFC综合征(最近被证明是努南综合征的一种变体)皮肤表现的文章进行了全面综述,重点强调了诊断标准及其与科斯特洛综合征的鉴别。

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