弹性纤维假黄瘤一例
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摘要
<正>临床资料患者,女,9岁。腹部、颈部、腋下淡黄色丘疹2年。患者2年前无明显诱因出现腹部淡黄色斑丘疹,无瘙痒、疼痛不适症状,未予治疗,后颈部、腋下出现类似皮疹,逐渐增多,遂于2018年4月来我科就诊。患者足月顺产,平素体健,否认心血管及胃肠道疾病病史,否认家族中有类似病史,心肺腹
引文
[1] Struk B,Neldner KH,Rao VS,et al.Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1[J].Human Molecular Genetics,1997,6(11):1823-1828.
[2] Uitto J,Li Q,van de Wetering K,et al.Insights into pathomechanisms and treatment development in heritable ectopic mineralization disorders:summary of the PXE International Biennial Research Symposium-2016[J].J Invest Dermatol,2017,137(4):790-795.
[3] Li Q,Kingman J,van de Wetering K,et al.Abcc6 knockout rat model highlights the role of liver in PPi homeostasis in pseudoxanthoma elasticum [J].J Invest Dermatol,2017,137(5):1025-1032.
[4] Lomashvili KA,Narisawa S,Millan JL,et al.Vascular calcification is dependent on plasma levels of pyrophosphate[J].Kidney Int,2014,85:1351-1356.
[5] 赵辨.中国临床皮肤病学[M].2版.南京:江苏凤凰科学技术出版社,2017:1222-1224.
[6] Lacarrubba F,Verzì AE,Caltabiano R,et al.Dermoscopy of pseudoxanthoma elasticum[J].J Am Acad Dermatol,2017,76(2S1):S69-S70.
[7] Pomozi V,Brampton C,Szeri F,et al.Functional rescue of ABCC6 deficiency by 4-phenylbutyrate therapy reduces dystrophic calcification in Abcc6-/- mice[J].J Invest Dermatol,2017,137(3):595-602.
[8] Navasiolava N,Gnanou M,Douillard M,et al.The extent of PXE skin changes is related to cardiovascular complications and visual loss:a cross-sectional study[J].Br J Dermatol,2019,180(1):207-208.
[9] Orssaud C,Roche O,Dufier JL,et al.Visual impairment in Pseudoxanthoma Elasticum:a survey of 40 patients[J].Ophthalmic Genet,2015,36(4):327-332.
[2] Uitto J,Li Q,van de Wetering K,et al.Insights into pathomechanisms and treatment development in heritable ectopic mineralization disorders:summary of the PXE International Biennial Research Symposium-2016[J].J Invest Dermatol,2017,137(4):790-795.
[3] Li Q,Kingman J,van de Wetering K,et al.Abcc6 knockout rat model highlights the role of liver in PPi homeostasis in pseudoxanthoma elasticum [J].J Invest Dermatol,2017,137(5):1025-1032.
[4] Lomashvili KA,Narisawa S,Millan JL,et al.Vascular calcification is dependent on plasma levels of pyrophosphate[J].Kidney Int,2014,85:1351-1356.
[5] 赵辨.中国临床皮肤病学[M].2版.南京:江苏凤凰科学技术出版社,2017:1222-1224.
[6] Lacarrubba F,Verzì AE,Caltabiano R,et al.Dermoscopy of pseudoxanthoma elasticum[J].J Am Acad Dermatol,2017,76(2S1):S69-S70.
[7] Pomozi V,Brampton C,Szeri F,et al.Functional rescue of ABCC6 deficiency by 4-phenylbutyrate therapy reduces dystrophic calcification in Abcc6-/- mice[J].J Invest Dermatol,2017,137(3):595-602.
[8] Navasiolava N,Gnanou M,Douillard M,et al.The extent of PXE skin changes is related to cardiovascular complications and visual loss:a cross-sectional study[J].Br J Dermatol,2019,180(1):207-208.
[9] Orssaud C,Roche O,Dufier JL,et al.Visual impairment in Pseudoxanthoma Elasticum:a survey of 40 patients[J].Ophthalmic Genet,2015,36(4):327-332.