面部先天性浸润性脂肪增殖症伴发癫痫1例
|
摘要
面部先天性浸润性脂肪增殖症是一种罕见的先天性脂肪组织过度增生性疾病,临床表现主要为面部渐进性膨隆、邻近骨增生、牙齿发育畸形等。本文报道面部先天性浸润性脂肪增殖症伴发癫痫1例,并结合文献对其发病特点、病因、诊断及治疗进行讨论。
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.
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.
引文
[1]Pires Fraga MF,Mello D,Jorge D,et al.Congenital infiltrating lipomatosis[J].J Plast Reconstr Aesthet Surg,2009,62(12):e561-e564.
[2]Li YT,Chang GJ,Si LB,et al.Congenital infiltrating lipomatosis of the face:case report and literature review[J].Ann Plast Surg,2018,80(1):83-89.
[3]Serpa MS,Scully C,Molina Vivas AP,et al.Infiltrating lipomatosis of the face:case series and literature review[J].Oral Surg Oral Med Oral Pathol Oral Radiol,2017,123(3):e99-e105.
[4]Sun LS,Sun ZP,Zhu JX,et al.Tooth abnormalities in congenital infiltrating lipomatosis of the face[J].Oral Surg Oral Med Oral Pathol Oral Radiol,2013,115(2):e52-e62.
[5]Capra V,Severino M,Rossi A,et al.Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1[J].Am J Med Genet A,2014,164(2):495-499.
[6]Talamanca L,Verdolotti T,Colafati G,et al.Hemimegalencephaly associated with congenital infiltrating lipomatosis of the face:a case report[J].Neuropediatrics,2012,43(6):349-352.
[7]Santana-Ramirez A,Farias-Serratos F,Sanchez-Corona J,et al.Hemimegalencephaly with facial congenital infiltrating lipomatosis in a child[J].Iran J Public Health,2014,43(12):1702-1709.
[8]Unal O,Cirak B,Bekerecioglu M,et al.Congenital infiltrating lipomatosis of the face with cerebral abnormalities[J].Eur Radiol,2000,10(10):1610-1613.
[9]Alkan O,Yildirim T,Seyhan T,et al.Congenital infiltrating lipomatosis of the face with hemimegalencephaly[J].Neuropediatrics,2009,40(3):141-143.
[10]Aydíng?z U,Emir S,Karlí-O?uz K,et al.Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly[J].Pediatr Radiol,2002,32(2):106-109.
[11]Maruyama K,Okumura A,Negoro T,et al.Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly,band heterotopia,and hypertrophy of brainstem and cerebellum[J].Neuropediatrics,2010,41(3):147-150.
[12]Donati L,Candiani P,Grappolini S,et al.Congenital infiltrating lipomatosis of the face related to cytomegalovirus infection[J].Br J Plast Surg,1990,43(1):124-126.
[13]Sowa Y,Imura T,Numajiri T,et al.Adipose stromal cells contain phenotypically distinct adipogenic progenitors derived from neural crest[J].PLoS One,2013,8(12):e84206.
[14]Olson LE,Soriano P.PDGFRβsignaling regulates mural cell plasticity and inhibits fat development[J].Dev Cell,2011,20(6):815-826.
[15]Tracy JC,Klement GL,Scott AR.Interdisciplinary management of congenital infiltrating lipomatosis[J].Int J Pediatr Otorhinolaryngol,2013,77(12):2071-2074.
[16]Maclellan RA,Luks VL,Vivero MP,et al.PIK3CA activating mutations in facial infiltrating lipomatosis[J].Plast Reconstr Surg,2014,133(1):9e-12e.
[17]Alcantara D,Timms AE,Gripp K,et al.Mutations of AKT3are associated with a wide spectrum of developmental disorders including extreme megalencephaly[J].Brain,2017,140(10):2610-2622.
[18]Loconte DC,Grossi V,Bozzao C,et al.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[J].PLoS One,2015,10(4):e0123092.
[19]穆卫东,胡翠爱.神经皮肤综合征2例报道[J].中国中西医结合儿科学,2015,7(6):657-658.Mu WD,Hu CA.Two cases report on neurocutaneous syndromes[J].Chin Pediatr Integr Tradit Western Med,2015,7(6):657-658.
[2]Li YT,Chang GJ,Si LB,et al.Congenital infiltrating lipomatosis of the face:case report and literature review[J].Ann Plast Surg,2018,80(1):83-89.
[3]Serpa MS,Scully C,Molina Vivas AP,et al.Infiltrating lipomatosis of the face:case series and literature review[J].Oral Surg Oral Med Oral Pathol Oral Radiol,2017,123(3):e99-e105.
[4]Sun LS,Sun ZP,Zhu JX,et al.Tooth abnormalities in congenital infiltrating lipomatosis of the face[J].Oral Surg Oral Med Oral Pathol Oral Radiol,2013,115(2):e52-e62.
[5]Capra V,Severino M,Rossi A,et al.Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1[J].Am J Med Genet A,2014,164(2):495-499.
[6]Talamanca L,Verdolotti T,Colafati G,et al.Hemimegalencephaly associated with congenital infiltrating lipomatosis of the face:a case report[J].Neuropediatrics,2012,43(6):349-352.
[7]Santana-Ramirez A,Farias-Serratos F,Sanchez-Corona J,et al.Hemimegalencephaly with facial congenital infiltrating lipomatosis in a child[J].Iran J Public Health,2014,43(12):1702-1709.
[8]Unal O,Cirak B,Bekerecioglu M,et al.Congenital infiltrating lipomatosis of the face with cerebral abnormalities[J].Eur Radiol,2000,10(10):1610-1613.
[9]Alkan O,Yildirim T,Seyhan T,et al.Congenital infiltrating lipomatosis of the face with hemimegalencephaly[J].Neuropediatrics,2009,40(3):141-143.
[10]Aydíng?z U,Emir S,Karlí-O?uz K,et al.Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly[J].Pediatr Radiol,2002,32(2):106-109.
[11]Maruyama K,Okumura A,Negoro T,et al.Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly,band heterotopia,and hypertrophy of brainstem and cerebellum[J].Neuropediatrics,2010,41(3):147-150.
[12]Donati L,Candiani P,Grappolini S,et al.Congenital infiltrating lipomatosis of the face related to cytomegalovirus infection[J].Br J Plast Surg,1990,43(1):124-126.
[13]Sowa Y,Imura T,Numajiri T,et al.Adipose stromal cells contain phenotypically distinct adipogenic progenitors derived from neural crest[J].PLoS One,2013,8(12):e84206.
[14]Olson LE,Soriano P.PDGFRβsignaling regulates mural cell plasticity and inhibits fat development[J].Dev Cell,2011,20(6):815-826.
[15]Tracy JC,Klement GL,Scott AR.Interdisciplinary management of congenital infiltrating lipomatosis[J].Int J Pediatr Otorhinolaryngol,2013,77(12):2071-2074.
[16]Maclellan RA,Luks VL,Vivero MP,et al.PIK3CA activating mutations in facial infiltrating lipomatosis[J].Plast Reconstr Surg,2014,133(1):9e-12e.
[17]Alcantara D,Timms AE,Gripp K,et al.Mutations of AKT3are associated with a wide spectrum of developmental disorders including extreme megalencephaly[J].Brain,2017,140(10):2610-2622.
[18]Loconte DC,Grossi V,Bozzao C,et al.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[J].PLoS One,2015,10(4):e0123092.
[19]穆卫东,胡翠爱.神经皮肤综合征2例报道[J].中国中西医结合儿科学,2015,7(6):657-658.Mu WD,Hu CA.Two cases report on neurocutaneous syndromes[J].Chin Pediatr Integr Tradit Western Med,2015,7(6):657-658.