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[面部先天性浸润性脂肪瘤病伴癫痫发作:一例报告]

[Congenital infiltrating lipomatosis of face with seizures: a case report].

作者信息

Liu Shan, Yang Li-Sa, Ding Zhang-Fan, Liang Yu-Hao, Wang Xiao-Yi

机构信息

State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Head and Neck Oncology, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China.

出版信息

Hua Xi Kou Qiang Yi Xue Za Zhi. 2019 Feb 1;37(1):109-112. doi: 10.7518/hxkq.2019.01.022.

DOI:10.7518/hxkq.2019.01.022
PMID:30854831
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7030733/
Abstract

Congenital infiltrating lipomatosis of the face is a rare disorder resulting from overgrowth of adipose tissues. This condition presents gradually with swelling along with age, hypertrophy of adjacent bones, and tooth abnormalities. This study reports a case of congenital infiltrating lipomatosis of face with seizures and reviews relevant literature on the etiology, clinical symptom, diagnosis, and treatment of this condition.

摘要

先天性面部浸润性脂肪瘤病是一种由脂肪组织过度生长引起的罕见疾病。这种病症会随着年龄增长逐渐出现肿胀、相邻骨骼肥大以及牙齿异常。本研究报告了一例伴有癫痫发作的先天性面部浸润性脂肪瘤病病例,并回顾了关于该病症的病因、临床症状、诊断和治疗的相关文献。

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1
[Congenital infiltrating lipomatosis of face with seizures: a case report].[面部先天性浸润性脂肪瘤病伴癫痫发作:一例报告]
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本文引用的文献

1
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.AKT3基因的突变与多种发育障碍相关,包括极端巨头畸形。
Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.
2
Congenital Infiltrating Lipomatosis of the Face: Case Report and Literature Review.先天性面部浸润性脂肪瘤:病例报告及文献综述
Ann Plast Surg. 2018 Jan;80(1):83-89. doi: 10.1097/SAP.0000000000001213.
3
Infiltrating lipomatosis of the face: case series and literature review.面部浸润性脂肪瘤病:病例系列及文献综述
Oral Surg Oral Med Oral Pathol Oral Radiol. 2017 Mar;123(3):e99-e105. doi: 10.1016/j.oooo.2016.10.009. Epub 2016 Oct 15.
4
Hemimegalencephaly with Facial Congenital Infiltrating Lipomatosis in a Child.一名儿童患半侧巨脑畸形伴面部先天性浸润性脂肪瘤病
Iran J Public Health. 2014 Dec;43(12):1702-9.
5
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.PIK3CA相关过度生长谱系(PROS)患者中三种不同合子后突变的分子与功能特征:对PI3K/AKT/mTOR信号传导及对PI3K抑制剂敏感性的影响
PLoS One. 2015 Apr 27;10(4):e0123092. doi: 10.1371/journal.pone.0123092. eCollection 2015.
6
Adipose stromal cells contain phenotypically distinct adipogenic progenitors derived from neural crest.脂肪基质细胞包含源自神经嵴的表型不同的脂肪生成祖细胞。
PLoS One. 2013 Dec 31;8(12):e84206. doi: 10.1371/journal.pone.0084206. eCollection 2013.
7
PIK3CA activating mutations in facial infiltrating lipomatosis.面部浸润性脂肪瘤病中的 PIK3CA 激活突变。
Plast Reconstr Surg. 2014 Jan;133(1):12e-19e. doi: 10.1097/01.prs.0000436822.26709.7c.
8
Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.一名患有1号染色体1q24.3q31.1缺失的女孩出现垂体功能减退和先天性面部浸润性脂肪瘤病。
Am J Med Genet A. 2014 Feb;164A(2):495-9. doi: 10.1002/ajmg.a.36283. Epub 2013 Dec 5.
9
Interdisciplinary management of congenital infiltrating lipomatosis.先天性浸润性脂肪瘤病的多学科管理
Int J Pediatr Otorhinolaryngol. 2013 Dec;77(12):2071-4. doi: 10.1016/j.ijporl.2013.08.008. Epub 2013 Aug 22.
10
Tooth abnormalities in congenital infiltrating lipomatosis of the face.面部先天性浸润性脂肪瘤病中的牙齿异常。
Oral Surg Oral Med Oral Pathol Oral Radiol. 2013 Feb;115(2):e52-62. doi: 10.1016/j.oooo.2012.07.433. Epub 2012 Sep 28.