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An Unexpected Airway Complication in a Male Patient with Goltz Syndrome.

作者信息

Smith Sadie, Gadhok Kavita, Guvakov Dmitri

机构信息

Penn State Milton S. Hershey Medical Center, 500 University Drive, H187, Hershey, PA 17033, USA.

Penn State Hershey Anesthesia, 500 University Drive, H187, Hershey, PA 17033, USA.

出版信息

Case Rep Anesthesiol. 2016;2016:4659891. doi: 10.1155/2016/4659891. Epub 2016 Sep 18.

DOI:10.1155/2016/4659891
PMID:27721997
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5046003/
Abstract

Goltz syndrome, also known as focal dermal hypoplasia, is a rare X-linked dominant multisystem syndrome presenting with cutaneous, skeletal, dental ocular, central nervous system and soft tissue abnormalities. This case report discusses an adult male patient with Goltz syndrome that was noted to have large, papillomatous, hypopharyngeal lesions upon induction of general anesthesia. We highlight challenges with airway management intraoperatively and postoperatively in patients with Goltz syndrome. Our aim is to increase awareness of the potential airway complications associated with this genetic disorder and to provide suggestions for optimal perioperative management for patients afflicted with Goltz syndrome.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1a0/5046003/fae43286ce7a/CRIA2016-4659891.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1a0/5046003/fae43286ce7a/CRIA2016-4659891.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1a0/5046003/fae43286ce7a/CRIA2016-4659891.001.jpg

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引用本文的文献

1
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.
2
A Case of Focal Dermal Hypoplasia (Goltze Syndrome) Masquerading as Lingual Tonsillar Hypertrophy.一例伪装成舌扁桃体肥大的局灶性真皮发育不全(戈尔茨综合征)病例。
Case Rep Otolaryngol. 2019 Jun 18;2019:9536256. doi: 10.1155/2019/9536256. eCollection 2019.

本文引用的文献

1
Pharyngeal Presentation of Goltz Syndrome: A Case Report with Review of the Literature.戈尔茨综合征的咽部表现:一例报告并文献复习
Head Neck Pathol. 2016 Jun;10(2):188-91. doi: 10.1007/s12105-015-0667-4. Epub 2015 Nov 17.
2
A case report of focal dermal hypoplasia-Goltz syndrome.局灶性真皮发育不全-戈尔茨综合征病例报告
Indian Dermatol Online J. 2013 Jul;4(3):241-3. doi: 10.4103/2229-5178.115535.
3
Focal dermal hypoplasia: updates.局灶性真皮发育不全:最新进展
Oral Dis. 2014 Jan;20(1):17-24. doi: 10.1111/odi.12083. Epub 2013 Mar 6.
4
A case of male goltz syndrome.
Case Rep Pediatr. 2012;2012:728509. doi: 10.1155/2012/728509. Epub 2012 Oct 18.
5
Novel mutation in a child with Goltz syndrome.戈谢氏综合征患儿的新型突变。
Indian J Pediatr. 2012 Jan;79(1):120-3. doi: 10.1007/s12098-011-0513-y. Epub 2011 Jul 6.
6
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.严重戈尔茨-高林综合征与坎特雷尔五联征并存:病例报告及文献复习。
Am J Med Genet A. 2011 May;155A(5):1102-5. doi: 10.1002/ajmg.a.33895. Epub 2011 Apr 11.
7
A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient.男性马赛克型戈勒兹综合征(局限性皮肤发育不全) 1 例。
Australas J Dermatol. 2011 Feb;52(1):48-51. doi: 10.1111/j.1440-0960.2010.00662.x.
8
Airway management in a patient with focal dermal hypoplasia.
Anesth Analg. 2006 Nov;103(5):1342. doi: 10.1213/01.ane.0000242323.73548.0b.
9
Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx.
Eur J Dermatol. 1999 Dec;9(8):618-20.
10
Airway involvement and anesthetic management in Goltz's syndrome.
J Clin Anesth. 1991 Sep-Oct;3(5):422-5; discussion 426. doi: 10.1016/0952-8180(91)90190-x.