伴有PRKAR1A突变且表现为多发性复发性皮肤黏液瘤的卡尼综合征1型：病例报告 - Suppr

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超能文献

Carney complex 1 with PRKAR1A mutations manifesting as multiple repeated skin myxomas: A case report.

作者信息

Sakugawa Hiroyuki, Hayashi Kentaro, Uema Michihito, Miyagi Takuya, Utsumi Daisuke, Yamaguchi Sayaka, Takahashi Kenzo

机构信息

Department of Dermatology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.

Faculty of Medicine, University of the Ryukyus, Nishihara, Japan.

出版信息

J Dermatol. 2020 Apr;47(4):e122-e124. doi: 10.1111/1346-8138.15254. Epub 2020 Feb 3.

DOI:10.1111/1346-8138.15254

PMID:32011755

Abstract

摘要

相似文献

Carney complex 1 with PRKAR1A mutations manifesting as multiple repeated skin myxomas: A case report.

J Dermatol. 2020 Apr;47(4):e122-e124. doi: 10.1111/1346-8138.15254. Epub 2020 Feb 3.

Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG.

World J Surg Oncol. 2015 Feb 27;13:83. doi: 10.1186/s12957-015-0470-4.

Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex.

Eur J Pediatr. 2009 Nov;168(11):1401-4. doi: 10.1007/s00431-009-0935-y. Epub 2009 Feb 14.

[Psammomatous melanotic schwannoma as indicator of a Carney complex].

Pathologe. 2013 Jul;34(4):343-6. doi: 10.1007/s00292-012-1736-z.

Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation.

Neuro Endocrinol Lett. 2017 Aug;38(4):248-254.

[Carney complex].

Endocrinol Nutr. 2011 Jun-Jul;58(6):308-14. doi: 10.1016/j.endonu.2011.03.001. Epub 2011 May 4.

Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas.

Cardiovasc Pathol. 2024 Jul-Aug;71:107632. doi: 10.1016/j.carpath.2024.107632. Epub 2024 Mar 15.

Multiple cutaneous angiomyxomas in a child.

Pediatr Dermatol. 2011 Jul-Aug;28(4):462-4. doi: 10.1111/j.1525-1470.2010.01291.x. Epub 2010 Dec 7.

Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented.

J Stroke Cerebrovasc Dis. 2012 Nov;21(8):914.e1-8. doi: 10.1016/j.jstrokecerebrovasdis.2012.01.006. Epub 2012 Feb 15.

Novel PRKAR1A gene mutations in Carney Complex.

Int J Clin Exp Pathol. 2010 May 10;3(5):545-8.

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Carney complex 1 with PRKAR1A mutations manifesting as multiple repeated skin myxomas: A case report.

作者信息

Sakugawa Hiroyuki, Hayashi Kentaro, Uema Michihito, Miyagi Takuya, Utsumi Daisuke, Yamaguchi Sayaka, Takahashi Kenzo

机构信息

Department of Dermatology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.

Faculty of Medicine, University of the Ryukyus, Nishihara, Japan.

出版信息

J Dermatol. 2020 Apr;47(4):e122-e124. doi: 10.1111/1346-8138.15254. Epub 2020 Feb 3.

DOI:10.1111/1346-8138.15254

PMID:32011755

Abstract

摘要

相似文献

Carney complex 1 with PRKAR1A mutations manifesting as multiple repeated skin myxomas: A case report.

J Dermatol. 2020 Apr;47(4):e122-e124. doi: 10.1111/1346-8138.15254. Epub 2020 Feb 3.

Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG.

World J Surg Oncol. 2015 Feb 27;13:83. doi: 10.1186/s12957-015-0470-4.

Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex.

Eur J Pediatr. 2009 Nov;168(11):1401-4. doi: 10.1007/s00431-009-0935-y. Epub 2009 Feb 14.

[Psammomatous melanotic schwannoma as indicator of a Carney complex].

Pathologe. 2013 Jul;34(4):343-6. doi: 10.1007/s00292-012-1736-z.

Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation.

Neuro Endocrinol Lett. 2017 Aug;38(4):248-254.

[Carney complex].

Endocrinol Nutr. 2011 Jun-Jul;58(6):308-14. doi: 10.1016/j.endonu.2011.03.001. Epub 2011 May 4.

Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas.

Cardiovasc Pathol. 2024 Jul-Aug;71:107632. doi: 10.1016/j.carpath.2024.107632. Epub 2024 Mar 15.

Multiple cutaneous angiomyxomas in a child.

Pediatr Dermatol. 2011 Jul-Aug;28(4):462-4. doi: 10.1111/j.1525-1470.2010.01291.x. Epub 2010 Dec 7.

Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented.

J Stroke Cerebrovasc Dis. 2012 Nov;21(8):914.e1-8. doi: 10.1016/j.jstrokecerebrovasdis.2012.01.006. Epub 2012 Feb 15.

Novel PRKAR1A gene mutations in Carney Complex.

Int J Clin Exp Pathol. 2010 May 10;3(5):545-8.