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CLOVES综合征 被引量：3

CLOVES syndrome
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摘要 CLOVES综合征是一种以先天性脂肪瘤过度生长、血管畸形、表皮痣、脊柱侧弯/骨骼畸形或脊髓异常为主要临床表现的罕见的过度生长综合征,其病因为PIK3CA基因突变。治疗是一个长期复杂的过程,需多学科联合管理,目前主要是对症处理。随着分子诊断技术的发展,基因靶向治疗会成为一种可能。本病长期预后不明。 CLOVES syndrome is a rare overgrowth syndrome manifested by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis/spinal anomalies, which was caused by postzygotic activating mutations of PIK3 CA. The management is a rather complex, lengthy process requiring the experience of different specialties. The corresponding management is symptomatic. The continual evolving of molecular diagnosis enables the possibility of novel therapies targeting specific genes in the future. Long-term prognosis of the disease is still unclear.
作者 尹瑞瑞 孙玉娟 马琳
机构地区 徐州市儿童医院皮肤科 首都医科大学附属北京儿童医院皮肤科
出处 《实用皮肤病学杂志》 2016年第2期124-126,共3页 Journal of Practical Dermatology
基金 首都医学发展科研专项基金资助项目(2016-2093)
关键词 CLOVES综合征 PIK3CA基因 脂肪瘤 过度生长 脉管畸形 CLOVES syndrome PIK3CA gene Lipoma Overgrowth Vascular malformations
分类号 R758.5 [医药卫生—皮肤病学与性病学]
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参考文献22

  • 1Sapp JC, Turner JT, van de Kamp JM, et al. Newly delineated syndrome of congenital lipomatous overgrowth,vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients [J]. Am J Med Genet A, 2007, 143A(24):2944-2958.
  • 2Alomari AI. Characterization of a distinct syndrome that associates complex truncal overgrowth,vascular, and acral anomalies: A descriptive study of 18 cases of CLOVES syndrome [J]. Clin Dysmorphol, 2009, 18( 1 ): 1-7.
  • 3仇雅璟,林晓曦,杨希,马刚,陈辉,胡晓洁,金云波.CLOVES综合征一例[J].中华整形外科杂志,2014,30(1):64-66. 被引量：4
  • 4Knrek KC, Luks VL, Arturk UM, et al. Somatic mosaic activating mutations in P1K3CA cause CLOVES syndrome [J]. Am J Hum Genet, 2012, 90(6):1108-1115.
  • 5Emrick LT, Murphy L, Shamshirsaz AA, et al. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes [J]. Am J Med Genet A, 2014, 164A(10):2633-2637.
  • 6Loconte DC,Grossi V,Bozzao C,et al.Molecular and functional characterization of three different postzygotic mutations in PIK3CA- related overgrowth spectnnn (PROS) patients: effects on PI3K/AKT/ mTOR signaling and sensitivity to PIK3 inhibitors [J]. PloS One, 2015, 10(4):e0123092.
  • 7Keppler-Noreuil KM, Rios JJ, Parker Ve, et al. PIK3CA-related overgrowth spectrum (PROS):diagnostic and testing eligibility criteria,differential diagnosis,and evaluation [J]. Am J Med Genet A, 2015, 167A(2):287-295.
  • 8Harit D,Aggarwal A.CLOVE syndrome with nevus unis lateris:report of a case [J]. Pediatr Dermatol, 2010, 27(3):311-312.
  • 9Sariei D, Akin MA, Kurtoglu S, et al. A Neonate with CLOVES Syndrome [J]. Case Rep Pediatr, 2014, 845074.
  • 10Alomari AI, Burrows PE, Lee EY, et al. CLOVES syndrome with thoracic and central phlebectasia:increased risk of pulmonary embolism [J]. J Thorac Cardiovasc Surg, 2010, 140(2):459-463.

二级参考文献23

  • 1Sapp JC,Turner JT,van de Kamp JM. Newly delineated syndrome of congenital lipomatous overgrowth,vascular malformations,and epidermal nevi (CLOVE syndrome) in seven patients[J].{H}American Journal of Medicdl Genetics,2007.2944-2958.
  • 2Alomari AI. Characterization of a distinct syndrome that associates complex truncal overgrowth,vascular,and acral anomalies:a descriptive study of 18 cases of CLOVES syndrome[J].{H}CLINICAL DYSMORPHOLOGY,2009.1-7.
  • 3Kurek KC,Luks VL,Ayturk UM. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome[J].{H}American Journal of Hunan Genetics,2012.1108-1115.
  • 4Fernandez-Pineda I,Fajardo M,Chaudry G. Perinatal clinical and imaging features of CLOVES syndrome[J].{H}Pediatric Radiology,2010.1436-1439.
  • 5Gohz RW, Peterson WC, Gorlin RJ, et al. Focal dermal hy-poplasia syndrome[J]. Arch Dermatol, 1962, 86(6): 708-717.
  • 6Wang L, Jin X, Zhao X, et al. Focal dermal hypoplasia: updates [J]. Oral Diseases, 2014, 20(1): 17-24.
  • 7Thakkar S, Bharani S. A case report of focal dermal hypoplasia- Gohz syndrome[J]. Indian J Dermatol Online, 2013, 4(3): 241.
  • 8Murakami C, de Oliverira Lira Ortega A, Guimaraes AS, et al. Focal dermal hypoplasia: a case report and literature review[J]. Oral Surg, Oral Med, Oral Pathol, Oral Radiol and Endod, 2011, 112(2): 11-18.
  • 9Wang X, Reid Sutton V, Omar-Peraza-Llanes J, et al. Mutations in X-linked PORCN, a putative regulator of wnt signaling, cause focal dermal hypoplasia[J]. Nat Genet, 2007, 39(7): 836-838.
  • 10Miranda SB, Delmaestro D, Bertoli R, et al. Focal dermal hy- poplasia with exuberant fat herniations and skeletal deformities [J]. Pediatr Dermatol, 2005, 22(5): 420-423.

共引文献4

同被引文献7

引证文献3

二级引证文献1

  • 1唐金玲,李珂瑶,罗勇奇,蒋艳玲,周斌.CLOVES综合征1例[J].中华皮肤科杂志,2023,56(3):259-261.
实用皮肤病学杂志
2016年 第2期

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