Focal dermal hypoplasia: Unusual presentation in Saudi Arabia

Awadh Alamri, Mazin Al Jabri
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引用次数: 1

Abstract

Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females. We report a case of a two month-old baby girl who had dermal hypoplasia, atrophic skin lesions with telangiectasia in a linear pattern, fat herniations, papillomas and cleft of the upper lip, ectrodactyly, claw hands, microphthalmia and unusual association of gastrointestinal omphalocele.

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局灶性皮肤发育不全:沙特阿拉伯的罕见表现
局灶性真皮发育不全(戈尔茨综合征)是一种罕见的遗传性多系统疾病,其特征是起源于外胚层和中胚层的多重异常。它主要发生在女性身上。我们报告一个两个月大的女婴,她有真皮发育不全,萎缩性皮肤病变,毛细血管扩张呈线性模式,脂肪突出,乳头状瘤和上唇裂,外指畸形,爪状手,小眼球和不寻常的胃肠道脐膨出。
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来源期刊
自引率
0.00%
发文量
17
审稿时长
16 weeks
期刊最新文献
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