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头皮先天性皮肤发育不全伴家族性模式:一例报告

Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report.

作者信息

AlShehri Waleed, AlFadil Sara, AlOthri Alhanouf, Alabdulkarim Abdulaziz O, Wani Shabeer A, Rabah Sari M

机构信息

Department of Plastic and Reconstructive Surgery, King Fahd Medical City, Riyadh, Saudi Arabia.

出版信息

World J Plast Surg. 2016 Sep;5(3):298-302.

PMID:27853695
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5109393/
Abstract

Aplasia Cutis Conginita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16 days old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient was managed conservatively until the defect has scarred 6 months later.

摘要

先天性皮肤发育不全(ACC)是一种以先天性皮肤缺失为特征的疾病,通常发生在头皮上。ACC可作为一种孤立的病症出现,也可伴有其他先天性异常。在此,我们描述一例16天大的女婴,其头皮患有孤立性ACC。她的两个哥哥姐姐被诊断患有ACC并伴有心脏或肢体异常。该患者接受了保守治疗,直到6个月后缺损处形成瘢痕。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49eb/5109393/6645dcd623bf/wjps-5-298-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49eb/5109393/5c865c6e725b/wjps-5-298-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49eb/5109393/cd8c0bae7eb9/wjps-5-298-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49eb/5109393/6645dcd623bf/wjps-5-298-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49eb/5109393/5c865c6e725b/wjps-5-298-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49eb/5109393/cd8c0bae7eb9/wjps-5-298-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49eb/5109393/6645dcd623bf/wjps-5-298-g003.jpg

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本文引用的文献

1
Aplasia cutis congenita after methimazole exposure in utero successfully treated with basic fibroblast growth factor.孕期暴露于甲巯咪唑后发生的先天性皮肤发育不全,经碱性成纤维细胞生长因子成功治疗。
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Hyperthyroidism during pregnancy.妊娠期甲状腺功能亢进症。
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Aplasia cutis congenita. A case of scalp defect repair using two opposing bipedicled local flaps.先天性皮肤发育不全。应用两个对向双蒂局部皮瓣修复头皮缺损 1 例。
J Plast Reconstr Aesthet Surg. 2010 Mar;63(3):e242-4. doi: 10.1016/j.bjps.2009.06.005. Epub 2009 Jul 4.
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[Aplasia cutis congenita of the scalp (5 observations)].[头皮先天性皮肤发育不全(5例观察)]
Arch Pediatr. 2008 Apr;15(4):382-7. doi: 10.1016/j.arcped.2007.12.011. Epub 2008 Mar 10.
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Aplasia cutis congenita with skull defect in a monozygotic twin after exposure to methimazole in utero.宫内暴露于甲巯咪唑后单卵双胎之一出现先天性皮肤发育不全伴颅骨缺损。
Birth Defects Res A Clin Mol Teratol. 2007 Oct;79(10):680-4. doi: 10.1002/bdra.20395.
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Aplasia cutis congenita following in utero methimazole exposure.宫内暴露于甲巯咪唑后发生的先天性皮肤发育不全。
J Pediatr Endocrinol Metab. 2007 May;20(5):585-6. doi: 10.1515/jpem.2007.20.5.585.
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Aplasia cutis cerebri with partial acrania--total reconstruction in a severe case and review of the literature.脑性皮肤发育不全伴部分颅骨缺失——1例严重病例的全颅重建及文献复习
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Aplasia cutis congenita of the scalp.先天性头皮皮肤发育不全
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What syndrome is this? Aplasia cutis congenita.这是什么综合征?先天性皮肤发育不全。
Pediatr Dermatol. 1997 Jul-Aug;14(4):330-2. doi: 10.1111/j.1525-1470.1997.tb00971.x.
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Familial aplasia cutis congenita.家族性先天性皮肤发育不全
Eur J Pediatr Surg. 1996 Apr;6(2):100-1. doi: 10.1055/s-2008-1066481.