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单侧局限性皮肤发育不全(戈尔茨综合征)病例。

Case of unilateral focal dermal hypoplasia (Goltz syndrome).

作者信息

Aoyama Masako, Sawada Hiroo, Shintani Yoichi, Isomura Iwao, Morita Akimichi

机构信息

Department of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

出版信息

J Dermatol. 2008 Jan;35(1):33-5. doi: 10.1111/j.1346-8138.2007.00408.x.

Abstract

Focal dermal hypoplasia (FDH) is a rare multisystem condition in which developmental defects of the skin are associated with ocular, dental and skeletal abnormalities. Herein, we report an 8-year-old girl with FDH. Her body halves were asymmetric and she had linear cutaneous atrophy with yellow nodules on her extremities. Syndactylies of the third and fourth fingers of the right hand and second and third toes of the right foot were also observed. Histological examination revealed dermal hypoplasia and upward extension of the adipose tissue. Based on these observations, she was diagnosed with unilateral FDH.

摘要

局灶性真皮发育不全(FDH)是一种罕见的多系统疾病,其皮肤发育缺陷与眼部、牙齿和骨骼异常相关。在此,我们报告一名患有FDH的8岁女孩。她的身体两侧不对称,四肢有线性皮肤萎缩并伴有黄色结节。还观察到右手第三和第四指以及右脚第二和第三趾并指(趾)畸形。组织学检查显示真皮发育不全以及脂肪组织向上延伸。基于这些观察结果,她被诊断为单侧FDH。

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