• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

[Giant papillomas of the tongue and pharynx in focal dermal hypoplasia: a case report].

作者信息

Kornek T, Augustin M, Krause K, Teudt I U, Neuber K, Herberger K

机构信息

Competenzzentrum Versorgungsforschung in der Dermatologie, Institut für Versorgungsforschung in der Dermatologie und bei Pflegeberufen, Universitätsklinikum Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Deutschland.

出版信息

Hautarzt. 2012 Jan;63(1):39-41. doi: 10.1007/s00105-011-2186-x.

DOI:10.1007/s00105-011-2186-x
PMID:21681541
Abstract

Focal dermal hypoplasia is a rare congenital syndrome with dominant X-linked mode of inheritance characterized by a wide range of meso-ectodermal anomalies. The clinical variation is great, as explained by the Lyon hypothesis and mosaicism. Findings include skin atrophy along the lines of Blaschko and papillomas. Our case is striking with rapidly-growing giant pharyngeal papillomas which caused dysphagia and required resection.

摘要

相似文献

1
[Giant papillomas of the tongue and pharynx in focal dermal hypoplasia: a case report].
Hautarzt. 2012 Jan;63(1):39-41. doi: 10.1007/s00105-011-2186-x.
2
Papillomas in Goltz syndrome: case report, anaesthetic considerations, and review of the literature.戈尔茨综合征中的乳头状瘤:病例报告、麻醉注意事项及文献综述。
Can J Ophthalmol. 2019 Oct;54(5):e227-e230. doi: 10.1016/j.jcjo.2018.12.007. Epub 2019 Jan 25.
3
Focal dermal hypoplasia (Goltz syndrome) associated with multiple giant papillomas.
Br J Dermatol. 1995 Dec;133(6):997-9. doi: 10.1111/j.1365-2133.1995.tb06941.x.
4
Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK.英国出现的罕见的家族性局灶性真皮发育不全(戈尔茨综合征)病例。
BMJ Case Rep. 2019 Dec 5;12(12):e231809. doi: 10.1136/bcr-2019-231809.
5
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).局灶性真皮发育不全(戈尔茨综合征)的皮肤表现。
Am J Med Genet C Semin Med Genet. 2016 Mar;172C(1):44-51. doi: 10.1002/ajmg.c.31472. Epub 2016 Feb 9.
6
Three cases of focal dermal hypoplasia (Goltz syndrome).三例局灶性真皮发育不全(戈尔茨综合征)。
Clin Exp Dermatol. 2005 Jan;30(1):35-7. doi: 10.1111/j.1365-2230.2004.01647.x.
7
Epilepsy in a patient with focal dermal hypoplasia.局灶性皮肤发育不良患者的癫痫。
Pediatr Neurol. 2011 Feb;44(2):135-8. doi: 10.1016/j.pediatrneurol.2010.08.003.
8
Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis.伴有局灶性皮肤发育不全和嗜酸性食管炎的食管鳞状乳头状瘤。
World J Gastroenterol. 2017 Mar 28;23(12):2246-2250. doi: 10.3748/wjg.v23.i12.2246.
9
Focal dermal hypoplasia: management of complex dental features.局灶性真皮发育不全:复杂牙齿特征的管理
J Clin Pediatr Dent. 2001 Summer;25(4):259-61. doi: 10.17796/jcpd.25.4.y777413x2136m041.
10
Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx.
Eur J Dermatol. 1999 Dec;9(8):618-20.

本文引用的文献

1
Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion.男性患者的局灶性真皮发育不良系 PORCN 单核苷酸缺失的镶嵌性所致。
J Eur Acad Dermatol Venereol. 2011 May;25(5):592-5. doi: 10.1111/j.1468-3083.2010.03782.x.
2
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.Wnt信号通路的调节因子PORCN的缺乏与局灶性真皮发育不全相关。
Nat Genet. 2007 Jul;39(7):833-5. doi: 10.1038/ng2052. Epub 2007 Jun 3.
3
A case of focal dermal hypoplasia (Goltz) syndrome with exophytic granulation tissue treated by curettage and photodynamic therapy.
1例采用刮除术和光动力疗法治疗的伴有外生性肉芽组织的局灶性真皮发育不全(戈尔茨)综合征病例。
Clin Exp Dermatol. 2006 Mar;31(2):228-31. doi: 10.1111/j.1365-2230.2005.02007.x.
4
Sex chromatin and gene action in the mammalian X-chromosome.哺乳动物X染色体中的性染色质与基因作用
Am J Hum Genet. 1962 Jun;14(2):135-48.
5
Autosomal inactivation.常染色体失活
Lancet. 1963 Jun 8;1(7293):1242-3. doi: 10.1016/s0140-6736(63)91870-1.
6
Focal dermal hypoplasia.局灶性真皮发育不全
Arch Dermatol. 1962 Dec;86:708-17. doi: 10.1001/archderm.1962.01590120006002.
7
Gene action in the X-chromosome of the mouse (Mus musculus L.).小鼠(小家鼠)X染色体上的基因作用。
Nature. 1961 Apr 22;190:372-3. doi: 10.1038/190372a0.
8
Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx.
Eur J Dermatol. 1999 Dec;9(8):618-20.
9
Focal dermal hypoplasia (Goltz syndrome) associated with multiple giant papillomas.
Br J Dermatol. 1995 Dec;133(6):997-9. doi: 10.1111/j.1365-2133.1995.tb06941.x.