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两名兄弟姐妹患交界性大疱性表皮松解症和幽门闭锁。

Junctional epidermolysis bullosa and pyloric atresia in two siblings.

作者信息

Egan N, Ward R, Olmstead M, Marks J G

出版信息

Arch Dermatol. 1985 Sep;121(9):1186-8.

PMID:4037846
Abstract

Pyloric atresia is a rare disorder that has been seen in association with epidermolysis bullosa. Two male siblings with pyloric atresia and the junctional form of epidermolysis bullosa, confirmed by electron microscopy, are described herein. These cases strengthen the relationship between junctional epidermolysis bullosa and pyloric atresia, which are probably transmitted together in an autosomal-recessive pattern.

摘要

幽门闭锁是一种罕见的疾病,曾被发现与大疱性表皮松解症相关。本文描述了两名患有幽门闭锁和经电子显微镜确诊的交界型大疱性表皮松解症的男性同胞。这些病例强化了交界型大疱性表皮松解症与幽门闭锁之间的关系,它们可能以常染色体隐性模式共同遗传。

相似文献

1
Junctional epidermolysis bullosa and pyloric atresia in two siblings.两名兄弟姐妹患交界性大疱性表皮松解症和幽门闭锁。
Arch Dermatol. 1985 Sep;121(9):1186-8.
2
Epidermolysis bullosa--pyloric atresia. An autosomal recessive syndrome.大疱性表皮松解症 - 幽门闭锁。一种常染色体隐性综合征。
Am J Dis Child. 1983 May;137(5):449-51.
3
[Herlitz syndrome and "pyloric atresia"].
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4
[Pathogenesis of atresia of the pylorus in patients with epidermolysis bullosa].
Pediatr Med Chir. 1984 Nov-Dec;6(6):839-42.
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Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.伴有整合素β4(ITGB4)突变的交界型大疱性表皮松解症中幽门闭锁的差异表达表明,幽门闭锁是由突变以外的因素引起的,且不能预测不良预后:三个新突变及文献综述
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6
Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein.通过异常超声检查和甲胎蛋白升高对胎儿进行致死性大疱性表皮松解症合并幽门闭锁的产前检测。
Am J Med Genet. 1993 Sep 1;47(3):395-400. doi: 10.1002/ajmg.1320470320.
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Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence.幽门闭锁-交界性大疱性表皮松解症中未检测到α6整合素。在有复发风险的家庭中进行产前诊断的应用。
Arch Dermatol. 1996 Aug;132(8):919-25.
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Congenital pyloric atresia and epidermolysis bullosa letalis in premature siblings.
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Pyloric atresia associated with epidermolysis bullosa.幽门闭锁合并大疱性表皮松解症。
Indian Pediatr. 2008 Oct;45(10):849-51.
10
Epidermolysis bullosa letalis associated with congenital pyloric atresia.
Arch Dermatol. 1981 Nov;117(11):728-31.

引用本文的文献

1
Congenital pyloric atresia and associated anomalies: a case series.先天性幽门闭锁及相关畸形:病例系列
J Neonatal Surg. 2013 Oct 1;2(4):40. eCollection 2013 Oct-Dec.
2
Epidermolysis bullosa and congenital pyloric atresia.大疱性表皮松解症与先天性幽门闭锁
BMJ Case Rep. 2013 Sep 24;2013:bcr2013201207. doi: 10.1136/bcr-2013-201207.
3
Congenital pyloric atresia and associated anomalies.先天性幽门闭锁及相关畸形。
Pediatr Surg Int. 2007 Jun;23(6):559-63. doi: 10.1007/s00383-007-1903-0. Epub 2007 Mar 28.
4
Congenital pyloric atresia: a report of two cases.先天性幽门闭锁:两例报告。
Ann Saudi Med. 2005 Mar-Apr;25(2):165-7. doi: 10.5144/0256-4947.2005.165.
5
Distal foregut atresias in consecutive siblings and twins in the same family.同一家族中连续出生的兄弟姐妹及双胞胎中的远端前肠闭锁。
Pediatr Surg Int. 2003 Jun;19(4):288-92. doi: 10.1007/s00383-002-0813-4. Epub 2003 May 9.
6
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.与幽门闭锁相关的交界性大疱性表皮松解症的产前诊断。
J Med Genet. 1990 Apr;27(4):244-8. doi: 10.1136/jmg.27.4.244.
7
Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa?伴有BM 600正常表达及胃窦-幽门闭锁的致死性交界性大疱性表皮松解症:交界性大疱性表皮松解症的一种新变异型?
Eur J Pediatr. 1992 Apr;151(4):252-7. doi: 10.1007/BF02072223.