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[Focal dermal hypoplasia with keratoconus, papillomatosis of esophagus and hidrocystomas (author's transl)].

作者信息

Zala L, Ettlin C, Krebs A

出版信息

Dermatologica. 1975;150(3):176-85.

PMID:1158014
Abstract

Focal dermal hypoplasia (Goltz's syndrome, Goltz-Gorlin syndrome), an uncommon malady belonging to the group of congenital poikloderma, is characterized by its broad spectrum of meso-ectodermal defects involving the skin as well as the eyes, skeletal system and teeth. The case represented her is identical with the one published by Naegeli 1926, and contains some additional findings that have not yet been reported, namely: multiple hidrocystomas, bilateral keratoconus, papillomatosis of esophagus, hiatus hernia.

摘要

相似文献

1
[Focal dermal hypoplasia with keratoconus, papillomatosis of esophagus and hidrocystomas (author's transl)].
Dermatologica. 1975;150(3):176-85.
2
Goltz's syndrome: focal dermal dysplasia syndrome (focal dermal hypoplasia): report of a case and on its etiology and pathogenesis.
Dermatologica. 1972;144(3):156-67.
3
[Focal dermal hypoplasia. Goltz's syndrome].[局灶性真皮发育不全。戈尔茨综合征]
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4
[Casus -- focal dermal hypoplasia (author's transl)].病例——局灶性皮肤发育不全(作者译)
Cesk Dermatol. 1976 Dec;51(6):394-403.
5
[Goltz syndrome. Focal dermal hypoplasia with polyoysplasia].
Med Cutan Ibero Lat Am. 1975;3(2):133-8.
6
Focal dermal hypoplasia.
Mod Probl Paediatr. 1975;17:35-43.
7
Focal dermal hypoplasia (Goltz syndrome) in a male.一名男性的局灶性真皮发育不全(戈尔茨综合征)。
Acta Paediatr Belg. 1978 Jan-Mar;31(1):37-9.
8
[Focal dermal hypoplasia (Goltz' and Gorlin's syndrome) in a newborn infant].[一名新生儿的局灶性真皮发育不全(戈尔茨和戈林综合征)]
Cesk Pediatr. 1978 Dec;33(12):743-4.
9
Goltz's syndrome. A case report.戈尔茨综合征。病例报告。
Ohio State Med J. 1974 Dec;70(12):721-4.
10
Focal dermal hypoplasia (Goltz's syndrome).局灶性真皮发育不全(戈尔茨综合征)。
Arch Dermatol. 1975 Feb;111(2):272. doi: 10.1001/archderm.111.2.272.

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A Rare Case of Squamous Cell Carcinoma of the Esophagus in a Patient With Goltz Syndrome.戈茨综合征患者发生食管鳞状细胞癌的罕见病例。
ACG Case Rep J. 2019 Mar 8;6(3):1-4. doi: 10.14309/crj.0000000000000045. eCollection 2019 Mar.
2
Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.圆锥角膜的遗传学方面:一篇文献综述,探讨潜在的遗传贡献以及与合并症可能的遗传关系。
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3
and Mutation Screening in Patients with Keratoconus in the South of Iran.
伊朗南部圆锥角膜患者的基因突变筛查
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Angioma serpiginosum is not caused by PORCN mutations.匐行性血管瘤并非由PORCN基因突变引起。
Eur J Hum Genet. 2009 Jul;17(7):881-2; author reply 882. doi: 10.1038/ejhg.2009.55. Epub 2009 Apr 1.
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Ophthalmologe. 2006 May;103(5):421-3. doi: 10.1007/s00347-005-1257-8.
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X-linked dominant inherited diseases with lethality in hemizygous males.半合子男性致死的X连锁显性遗传病。
Hum Genet. 1983;64(1):1-23. doi: 10.1007/BF00289472.
7
[Focal dermal hypoplasia with apocrine nevi and striation of bones (author's transl)].
Arch Dermatol Res (1975). 1976 Aug 27;256(2):189-95. doi: 10.1007/BF00567364.