磷脂酰肌醇-4,5-二磷酸3-激酶催化亚基α（PIK3CA）相关过度生长谱系：简要报告。
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
作者信息
Denorme Pieter, Morren Marie-Anne, Hollants Silke, Spaepen Marijke, Suaer Kate, Zutterman Nele, Labarque Veerle, Legius Eric, Brems Hilde
机构信息
Department of Dermatology, Microbiology, and Immunology, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
Department of Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
出版信息
Pediatr Dermatol. 2018 May;35(3):e186-e188. doi: 10.1111/pde.13441. Epub 2018 Mar 1.
A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.
描述了一名因体细胞功能获得性PIK3CA突变导致广泛多系统过度生长的患者。该病例是PIK3CA相关过度生长谱系（PROS）临床多样性的一个例子，因为该患者具有先天性脂肪瘤过度生长、血管畸形、表皮痣和骨骼异常（CLOVES）综合征以及巨脑-毛细血管畸形-多小脑回（MCAP）综合征的重叠特征，并强调了这个总括术语的实用性。
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