白色丘疹样营养不良型大疱性表皮松解症家系调查
摘要
白色丘疹样营养不良型大疱性表皮松解症[albopapuloid dystrophic epidermolysis bullosa（Pasini）]，即Pasini型EB，为皮肤科少见疾病。本科近期收治1例，其家系7代48名成员中该病患者16例，现报道如下。
出处
《中国麻风皮肤病杂志》
2010年第12期868-871,共4页
China Journal of Leprosy and Skin Diseases
参考文献10
-
1Fine JD,Eady RA,Bauer EA,et al.Revised classification system for inherited epidermolysis bullosa:report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa.J Am Acad Dermatol 2000;42(6):1051.
-
2Odom RB,James WD,Berge TG.Andrews'diseases of the skin:clinical dermatology.9th ed.New York:WB Saunders Company,2001.696.
-
3Dang N,Klingberg S,Marr P,et al.Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.J Dermatol Sci 2007;46(3):169.
-
4Posteraro P,Pascucci M,Colombi M,et al.Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.Biochem Biophys Res Commun 2005;338(3):1391.
-
5Nakamura H,Sawamura D,Goto M,et al.The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.J Dermatol Sci 2004;34(3):195.
-
6Rouan F,Pulkkinen L,Jonkman MF,et al.Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa:implications for genentic counseling.J Invest Dermatol 1998;111(6):1210.
-
7Goto M,Sawamura D,Ito K,et al.Fibroblasts show more potential as target celIs than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa.J Inveset Dermatol 2006;126(4):766.
-
8Chino T,Tamai K,Yamazaki T,et al.Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance.Am J Pathol 2008;173(3):803.
-
9Tolar J,Ishida-Yamamoto A,McElmurry RT,et al.Correction of the skin defet in murine recessive dystrophic epidermolysis bullosa by SLAM family receptor enriched hematopoietic stem cells.J Invest Dermatol 2008:128:122.
-
10Woodley DT,Keene DR,Atha T,et al.Intradermal injection of lentiviral vectors corrects regenerated human dystrophicepidermolysis bullosa skin tissue in vivo.Mol Ther 2004;10(2):318.
-
1邵娟,张法义,卢宪梅,魏宏.泛发性白色丘疹样营养不良型大疱性表皮松解症1例[J].中国麻风皮肤病杂志,2007,23(1):66-67.
-
2斯琴,刘跃华.鲍温样丘疹病的临床病理分析[J].中国性科学,2005,14(8):12-12. 被引量：2
-
3巫毅,金外淑,周玉华.白色丘疹样营养不良型大疱性表皮松解症1家系调查[J].中国麻风皮肤病杂志,2007,23(2):155-156.
-
4李如珍,胡素娟,魏磊.白色丘疹样营养不良型大疱性表皮松解症1例[J].中国皮肤性病学杂志,2006,20(7):446-447. 被引量：1
-
5刘林菁,潘健楷,许敏鸿.白色丘疹样营养不良型大疱性表皮松解症1例[J].临床皮肤科杂志,2008,37(9):599-600.
-
6李政霄,郑焱,王俊民,彭振辉,焦婷,惠爱英,纪泛扑.Pasini型大疱性表皮松解症1例[J].临床皮肤科杂志,2005,34(9):605-606.
-
7王琳,施为,谢红付.Pasini型大疱性表皮松解症1例[J].中国皮肤性病学杂志,2006,20(11):691-692.
-
8邓伟平,陆春,朱国兴,陈敏华,黄跃深,马寒,冯佩英,李小红.Pasini型显性营养不良型大疱性表皮松解症一家系11例[J].中华医学遗传学杂志,2007,24(5):600-600.
-
9单晓峰,张福仁,陈学超,卢宪梅.白色丘疹样营养不良型大疱性表皮松解症1例[J].中国麻风皮肤病杂志,2007,23(12):1101-1101.
-
10杨鲲鹏.白色丘疹样营养不良型大疱性表皮松解症1例[J].岭南皮肤性病科杂志,2008,15(3):176-177. 被引量：2
