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伴有动静脉畸形的变形综合征

Proteus Syndrome with Arteriovenous Malformation.

作者信息

Asilian Ali, Kamali Atefeh Sadat, Riahi Nabet Tajmir, Adibi Neda, Mokhtari Fatemeh

机构信息

Department of Dermatology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Department of Psychodermatology, Psychosomatic Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

Adv Biomed Res. 2017 Mar 7;6:27. doi: 10.4103/2277-9175.201684. eCollection 2017.

DOI:10.4103/2277-9175.201684
PMID:28401074
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5360000/
Abstract

Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome.

摘要

变形综合征是一种罕见的散发性疾病,表现为局限性巨大畸形、先天性脂肪瘤病、缓慢血流性血管畸形、结缔组织痣和表皮痣。通常在出生时就有一些表现。变形综合征中已报道的血管异常是毛细血管和缓慢血流性静脉畸形。我们报告一例确诊为变形综合征的10岁男孩,其特征是存在高血流性血管畸形(动静脉畸形),与该综合征中常见的血管畸形不同。该病例为变形综合征已有的临床发现增添了新的视角。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c2e/5360000/a956de56ddd7/ABR-6-27-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c2e/5360000/adaf7579b7a3/ABR-6-27-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c2e/5360000/a68afc840950/ABR-6-27-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c2e/5360000/993698ecfd59/ABR-6-27-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c2e/5360000/a956de56ddd7/ABR-6-27-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c2e/5360000/adaf7579b7a3/ABR-6-27-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c2e/5360000/a68afc840950/ABR-6-27-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c2e/5360000/993698ecfd59/ABR-6-27-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c2e/5360000/a956de56ddd7/ABR-6-27-g005.jpg

相似文献

1
Proteus Syndrome with Arteriovenous Malformation.伴有动静脉畸形的变形综合征
Adv Biomed Res. 2017 Mar 7;6:27. doi: 10.4103/2277-9175.201684. eCollection 2017.
2
Genetic basis for vascular anomalies.血管异常的遗传基础。
Semin Cutan Med Surg. 2016 Sep;35(3):128-36. doi: 10.12788/j.sder.2016.051.
3
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.节段性过度生长、脂肪瘤病、动静脉畸形和表皮痣(SOLAMEN)综合征与镶嵌型PTEN基因纯合缺失有关。
Eur J Hum Genet. 2007 Jul;15(7):767-73. doi: 10.1038/sj.ejhg.5201823. Epub 2007 Mar 28.
4
[Proteus syndrome: Case report of bladder vascular malformation causing massive hematuria].[变形杆菌综合征:膀胱血管畸形导致大量血尿的病例报告]
Prog Urol. 2012 Feb;22(2):132-5. doi: 10.1016/j.purol.2011.07.011. Epub 2011 Sep 15.
5
[CLOVES syndrome: a malformational syndrome closely resembling Proteus syndrome].CLOVES综合征:一种与变形综合征极为相似的畸形综合征
Ann Dermatol Venereol. 2014 Aug-Sep;141(8-9):507-13. doi: 10.1016/j.annder.2014.04.119. Epub 2014 Jun 2.
6
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder.先天性脂肪瘤过度生长、血管畸形和表皮痣(CLOVE)综合征:中枢神经系统畸形和癫痫可能是该疾病的一部分。
Am J Med Genet A. 2008 Oct 15;146A(20):2688-90. doi: 10.1002/ajmg.a.32515.
7
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.与半侧肥大、下肢不对称、动静脉畸形和脂肪瘤病的变形杆菌样综合征相关的种系和种系嵌合型PTEN突变。
Hum Mol Genet. 2000 Mar 22;9(5):765-8. doi: 10.1093/hmg/9.5.765.
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Vascular anomalies and the growth of limbs: a review.血管异常与肢体生长:综述
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[Disseminated complex vascular malformations].
Rev Prat. 1992 Oct 15;42(16):2044-7.
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Multiple capillary malformations of progressive onset: Capillary malformation-arteriovenous malformation syndrome (CM-AVM).进行性发作的多发性毛细血管畸形:毛细血管畸形-动静脉畸形综合征(CM-AVM)。
Ann Dermatol Venereol. 2018 Aug-Sep;145(8-9):486-491. doi: 10.1016/j.annder.2018.04.010. Epub 2018 Jul 26.

引用本文的文献

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Cardiothoracic imaging findings of Proteus syndrome.先天性红细胞生成性卟啉病的骨骼肌肉表现。
Sci Rep. 2021 Mar 22;11(1):6577. doi: 10.1038/s41598-021-86029-0.
2
SMAD4 Prevents Flow Induced Arteriovenous Malformations by Inhibiting Casein Kinase 2.SMAD4 通过抑制酪蛋白激酶 2 预防血流诱导的动静脉畸形。
Circulation. 2018 Nov 20;138(21):2379-2394. doi: 10.1161/CIRCULATIONAHA.118.033842.

本文引用的文献

1
Proteus syndrome: a case report with bone scintigraphy findings.Proteus 综合征:一例伴有骨骼闪烁显像结果的病例报告。
Diagn Interv Radiol. 2013 May-Jun;19(3):240-3. doi: 10.5152/dir.2013.081.
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Overgrowth syndromes.过度生长综合征。
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A mosaic activating mutation in AKT1 associated with the Proteus syndrome.AKT1 中的镶嵌激活突变与Proteus 综合征相关。
N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27.
4
Syndromes with focal overgrowth in infancy: diagnostic approach and surgical treatment.婴儿期局灶性过度生长综合征:诊断方法与外科治疗
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Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome.脑叶型脑连接组织痣在Proteus 综合征患者中的进行性过度生长。
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Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.变形综合征文献的重新评估:将诊断标准应用于已发表病例。
Am J Med Genet A. 2004 Oct 1;130A(2):111-22. doi: 10.1002/ajmg.a.30327.
7
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.PTEN肿瘤抑制基因种系突变与变形杆菌综合征及类变形杆菌综合征的关联。
Lancet. 2001 Jul 21;358(9277):210-1. doi: 10.1016/s0140-6736(01)05412-5.
8
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.变形综合征:诊断标准、鉴别诊断及患者评估
Am J Med Genet. 1999 Jun 11;84(5):389-95. doi: 10.1002/(sici)1096-8628(19990611)84:5<389::aid-ajmg1>3.0.co;2-o.
9
Proteus syndrome: an expanded phenotype.变形综合征:一种扩展的表型。
Am J Med Genet. 1987 May;27(1):99-117. doi: 10.1002/ajmg.1320270111.
10
Cutaneous manifestations of the Proteus syndrome.
Pediatr Dermatol. 1988 Feb;5(1):14-21. doi: 10.1111/j.1525-1470.1988.tb00878.x.