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局灶性真皮发育不全综合征中的无眼畸形

Anophthalmia in the focal dermal hypoplasia syndrome.

作者信息

Marcus D M, Shore J W, Albert D M

机构信息

David G. Cogan Eye Pathology Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston.

出版信息

Arch Ophthalmol. 1990 Jan;108(1):96-100. doi: 10.1001/archopht.1990.01070030102038.

DOI:10.1001/archopht.1990.01070030102038
PMID:2404489
Abstract

We examined an orbital exenteration specimen from an anophthalmic patient with focal dermal hypoplasia. Eyelid angiofibromas were evident and immunoperoxidase studies for human papilloma virus were negative. Orbital tissue contained a ductal cyst, chronic inflammation of the lacrimal duct and sac, rudimentary conjunctival fornices, lacrimal gland, striated muscle, and adipose tissue. Microscopic examination revealed a posteriorly located cystic structure with uveal and lens remnants. Neuroectodermal structures consistent with retina, optic nerve, or meninges were not observed, thus representing true anophthalmia. These findings remain as the only histopathologic description of ocular tissues in patients with focal dermal hypoplasia.

摘要

我们检查了一名患有局灶性皮肤发育不全的无眼患者的眼眶内容剜出标本。眼睑血管纤维瘤明显,人乳头瘤病毒免疫过氧化物酶研究呈阴性。眼眶组织包含一个导管囊肿、泪道和泪囊的慢性炎症、结膜穹窿残迹、泪腺、横纹肌和脂肪组织。显微镜检查显示一个位于后方的囊性结构,伴有葡萄膜和晶状体残余物。未观察到与视网膜、视神经或脑膜一致的神经外胚层结构,因此代表真正的无眼。这些发现仍然是局灶性皮肤发育不全患者眼部组织的唯一组织病理学描述。

相似文献

1
Anophthalmia in the focal dermal hypoplasia syndrome.局灶性真皮发育不全综合征中的无眼畸形
Arch Ophthalmol. 1990 Jan;108(1):96-100. doi: 10.1001/archopht.1990.01070030102038.
2
Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia.局灶性真皮发育不全中的脊髓脊膜膨出、阿诺德-奇亚里畸形和脑积水。
Am J Med Genet. 1988 Aug;30(4):917-23. doi: 10.1002/ajmg.1320300407.
3
Focal dermal hypoplasia. Current concepts and differential diagnosis.局灶性真皮发育不全。当前概念与鉴别诊断。
J Periodontol. 1989 Jun;60(6):330-5. doi: 10.1902/jop.1989.60.6.330.
4
[Focal dermal hypoplasia, or the Goltz-Gorlin syndrome].
Tijdschr Kindergeneeskd. 1990 Jun;58(3):103-4.
5
Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome.
J Cutan Pathol. 1989 Oct;16(5):237-58. doi: 10.1111/j.1600-0560.1989.tb00048.x.
6
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome.外胚层发育不良、缺指(趾)畸形、腭裂、无眼/小眼畸形及泌尿生殖系统异常:戈尔茨-戈林综合征与EEC综合征的疾病分类学
Am J Med Genet. 1992 Feb 1;42(3):276-80. doi: 10.1002/ajmg.1320420303.
7
Focal dermal hypoplasia syndrome with incomplete transverse facial cleft and tumour of the lips.
Br J Oral Maxillofac Surg. 1989 Feb;27(1):71-6. doi: 10.1016/0266-4356(89)90131-9.
8
[Goltz-Gorlin syndrome without focal dermal hypoplasia].
Hautarzt. 1988 Nov;39(11):743-5.
9
Oral and dental anomalies in Goltz syndrome.
J Pedod. 1989 Winter;13(2):161-8.
10
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.

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Long-term outcomes after cosmetic customized prostheses and dermis fat graft in congenital anophthalmia: a retrospective multicentre study.先天性无眼症患者行美容定制义眼和真皮脂肪移植的长期疗效:一项回顾性多中心研究。
Eye (Lond). 2018 Dec;32(12):1803-1810. doi: 10.1038/s41433-018-0179-z. Epub 2018 Jul 24.
2
Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report.戈尔茨综合征(局限性皮肤发育不良)伴单侧眼部、皮肤和骨骼表现:病例报告。
BMC Ophthalmol. 2010 Nov 19;10:28. doi: 10.1186/1471-2415-10-28.
3
Bilateral congenital anophthalmos and agenesis of the optic pathways.
双侧先天性无眼球及视路发育不全。
Yonsei Med J. 2005 Apr 30;46(2):296-9. doi: 10.3349/ymj.2005.46.2.296.
4
Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy.一名发育迟缓男孩患有隐睾症、小阴茎和临床无眼癫痫。
Int Urol Nephrol. 1996;28(1):103-8. doi: 10.1007/BF02550146.