国际皮肤性病学杂志    2002 28 (4): 225-227   ISSN: 2096-5540  CN: 32-1880/R  

交界型大疱性表皮松解症研究进展
李诚让, 杨森, 张学军
安徽医科大学第一附属医院皮肤科 合肥 220022
收稿日期 2001-11-01  修回日期 null  网络版发布日期 null
参考文献  [1] Fine JD,Bauer EA,Briggaman RA,et al.Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa.A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry.J Am Acad Dermatol,1991,24(1):119-135.
[2] Cserhalmi-Friedman PB,Yeboa KA,Christiano AM.DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa.Clin Exp Dermatol,2001,26(2):205-207.
[3] Pulkkinen L,Kurtz K,Xu Y,et al.Genomic organization of the integrin beta 4 gene(ITGB4):a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia.Lab Invest,1997,76(6):823-833.
[4] Pulkkinen L,Marinkovich MP,Tran HT,et al.Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic bcnign epidermolysis bullosa.J Invest Dermatol,1999,113(6):1114-1118.
[5] Floeth M,Fiedorowicz J,Shacke H,et al.Novel homozygous and Compound heterozygous COL17al Mutations associated with junctional epidermolysis bullosa.J Invest Dermatol,1998,11(3):528-533.
[6] Stouthamer A,Nieboer C,Van Der Waal RI,et al.Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa.Br J Dermatol,2001,144(5):1054-1057.
[7] McMillan JR,McGrath JA,Tidman M J,et al.Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa.J Invest Dermatol,1998,110(2):132-137.
[8] Horiguchi Y,Maruguchi T,Maruguchi Y,et al.Ultrastructural and immunohistochemical characterization of basal cells in three-dimensional culture models of the skin.Arch Dermatol Res,1994,286(1):53-61.
[9] Wasel N,Idikio H,Lees G,et al.Junctional epidermolysis bullosa with pyloric stenosis presenting with electron microscopic findings suggestive of epidermolysis bullosa simplex.Pediatr Derrmatol,2000,17(5):395-398.
[10] Puvabanditsin S,Garrow E,Kim DU,et al.Junctional epidermolysis bullosa associated with congenital localized absence of skin,and pyloric atresia in two newborn siblings.J Am Acad Dermatol,2001,44(2 Suppl):330-335.
[11] Burgeson RE,Chiquet M,Deutzmann R,et al.A new nomenclature for the laminins.Matrix Biol,1994,14(3):209-211.
[12] Aumailley M,Krieg T.Laminins:a family of diverse multifunctional molecules of basement membranes.J Invest Dermatol,1996,106(2):209-214.
[13] Masunaga T,Shimizu H,Ishiko A,et al.Localization of laminin-5 in the epidermal basement membrane.J Histochem Cytochem,1996,44(11):1223-1230.
[14] Pulkkinen L,Kimonis VE,Xu Y,et al.Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.Hum Mol Genet,1997,6(5):669-674.
[15] Pulkkinen L,Uitto J.Hemidesmosomal variants of epidermolysis bullosa.Mutations in the alpha 6 beta 4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes.Exp Dermatol,1998,7(2-3):46-64.
[16] Schaapveld RQ,Borradori L,Geerts D,et al.Hemidesmosome formation is initiated by the beta 4 integrin subunit,requires complex formation of beta4 and HD1/plectin,and involves a direct interaction between beta 4 and the bullous pemphigoid antigen 180.J Cell Biol,1998,142(1):271-284.
[17] Giudice GJ,Emery DJ,Diaz LA.Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180.J Invest Dermatol,1992,99(3):243-250.
[18] Takizawa Y,Hiraoka Y,Takahashi H,et al.Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa.J Invest Dermatol,2000,115(2):312-316.
[19] McGrath JA,Ashton GH,Mellerio JE,et al.Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.J Invest Dermatol,1999,113(3):314-321.
[20] Lepinard C,Descamps P,Meneguzzi G,et al.Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.Prenat Diagn,2000,20(1):70-75.
[21] Seubert DE,Feldman B,Krivchenia EL,et al.Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa:fetal skin biopsy using a 1mm microendoscope.Fetal Diagn Ther,2000,15(2):89-92.
[22] Cserhalmi-Friedman PB,Tang Y,Adler A,et al.Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa.Exp Dermatol,2000,9(4):290-297.
[23] Dellambra E,Vailly J,Pellegrini G,et al.Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa.Hum Gene Ther,1998,9(9):1359-1370.
[24] Vailly J,Gagnoux-Palacios L,Dell' Ambra E,et al.Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia.Gene Ther,1998,5(10):1322-1332.

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