메뉴 건너뛰기




Volumn 160, Issue 4, 2009, Pages 868-874

Acantholytic ectodermal dysplasia: Clinicopathological study of a new desmosomal disorder

Author keywords

Desmosomal disorder; Palmoplantar keratoderma; Skin fragility; Ultrastructure

Indexed keywords

ANTIBODY; DESMOGLEIN 1; DESMOPLAKIN; KERATIN; PLAKOGLOBIN;

EID: 62649095758     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08946.x     Document Type: Article
Times cited : (15)

References (30)
  • 1
    • 0034923678 scopus 로고    scopus 로고
    • Desmosomes: Structure and function in normal and diseased epidermis
    • McMillan JR, Shimizu H. Desmosomes: structure and function in normal and diseased epidermis. J Dermatol 2001 28 : 291 8.
    • (2001) J Dermatol , vol.28 , pp. 291-8
    • McMillan, J.R.1    Shimizu, H.2
  • 2
    • 0036454873 scopus 로고    scopus 로고
    • Mechanisms of desmosome assembly and dissembly
    • Kitajima Y. Mechanisms of desmosome assembly and dissembly. Clin Exp Dermatol 2002 27 : 684 90.
    • (2002) Clin Exp Dermatol , vol.27 , pp. 684-90
    • Kitajima, Y.1
  • 3
    • 0032819810 scopus 로고    scopus 로고
    • Cadherins and their connections: Adhesion junctions have broader functions
    • Steinberg MS, McNutt PM. Cadherins and their connections: adhesion junctions have broader functions. Curr Opin Cell Biol 1999 11 : 554 60.
    • (1999) Curr Opin Cell Biol , vol.11 , pp. 554-60
    • Steinberg, M.S.1    McNutt, P.M.2
  • 4
    • 0033491910 scopus 로고    scopus 로고
    • Molecular map of the desmosomal plaque
    • North AJ, Bardsley WG, Hyam J et al. Molecular map of the desmosomal plaque. J Cell Sci 1999 112 : 4325 36.
    • (1999) J Cell Sci , vol.112 , pp. 4325-36
    • North, A.J.1    Bardsley, W.G.2    Hyam, J.3
  • 5
    • 0032100705 scopus 로고    scopus 로고
    • Defining the interactions between intermediate filaments and desmosomes
    • Smith EA, Fuchs E. Defining the interactions between intermediate filaments and desmosomes. J Cell Biol 1998 141 : 1229 41.
    • (1998) J Cell Biol , vol.141 , pp. 1229-41
    • Smith, E.A.1    Fuchs, E.2
  • 6
    • 0034568948 scopus 로고    scopus 로고
    • Are desmosomes more than tethers for intermediate filaments?
    • Green KJ, Gaundry CA. Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol 2000 1 : 208 16.
    • (2000) Nat Rev Mol Cell Biol , vol.1 , pp. 208-16
    • Green, K.J.1    Gaundry, C.A.2
  • 7
    • 0035991944 scopus 로고    scopus 로고
    • Desmosomal adhesion, structural basis, molecular mechanism and regulation
    • Garrod DR, Merritt AJ, Nie Z. Desmosomal adhesion, structural basis, molecular mechanism and regulation. Mol Membr Biol 2002 19 : 81 94.
    • (2002) Mol Membr Biol , vol.19 , pp. 81-94
    • Garrod, D.R.1    Merritt, A.J.2    Nie, Z.3
  • 8
    • 0036228744 scopus 로고    scopus 로고
    • Intercellular adhesion, signaling and the cytoskeleton
    • Jamora C, Fuchs E. Intercellular adhesion, signaling and the cytoskeleton. Nat Cell Biol 2002 4 : E101 8.
    • (2002) Nat Cell Biol , vol.4 , pp. 101-8
    • Jamora, C.1    Fuchs, E.2
  • 9
    • 84984774604 scopus 로고    scopus 로고
    • Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
    • McGrath JA, McMillan JR, Shemanko CS et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997 17 : 240 4.
    • (1997) Nat Genet , vol.17 , pp. 240-4
    • McGrath, J.A.1    McMillan, J.R.2    Shemanko, C.S.3
  • 10
    • 0036548393 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1
    • Hamada T, South AP, Mitsuhashi Y et al. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol 2002 11 : 107 14.
    • (2002) Exp Dermatol , vol.11 , pp. 107-14
    • Hamada, T.1    South, A.P.2    Mitsuhashi, Y.3
  • 11
    • 0031717898 scopus 로고    scopus 로고
    • Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
    • Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998 39 : 418 21.
    • (1998) J Am Acad Dermatol , vol.39 , pp. 418-21
    • Carvajal-Huerta, L.1
  • 12
    • 0034265771 scopus 로고    scopus 로고
    • Miocardiopatía dilatada en las displasias del ectodermo. Observaciones electrocardiográficas en la hiperqueratosis palmoplantar con pelo lanoso
    • Duran M, Avekkan F, Carvajal L. Miocardiopatía dilatada en las displasias del ectodermo. Observaciones electrocardiográficas en la hiperqueratosis palmoplantar con pelo lanoso. Rev Esp Cardiol 2000 53 : 1296 300.
    • (2000) Rev Esp Cardiol , vol.53 , pp. 1296-300
    • Duran, M.1    Avekkan, F.2    Carvajal, L.3
  • 13
    • 0034326902 scopus 로고    scopus 로고
    • Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
    • Norgett EE, Hatsell SJ, Carvajal-Huerta L et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000 9 : 2761 6.
    • (2000) Hum Mol Genet , vol.9 , pp. 2761-6
    • Norgett, E.E.1    Hatsell, S.J.2    Carvajal-Huerta, L.3
  • 14
    • 0022483542 scopus 로고
    • Cardiac abnormalities in familial palmoplantar keratosis
    • Protonotarios N, Tsatsopoulou A, Patsourakos P et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 1986 56 : 321 6.
    • (1986) Br Heart J , vol.56 , pp. 321-6
    • Protonotarios, N.1    Tsatsopoulou, A.2    Patsourakos, P.3
  • 15
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    • McKoy G, Protonotarios N, Crosby A et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000 355 : 2119 24.
    • (2000) Lancet , vol.355 , pp. 2119-24
    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3
  • 16
    • 33744983767 scopus 로고    scopus 로고
    • Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1
    • Essoy-Evans S, Erkin G, Fassihi H et al. Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol 2006 55 : 157 61.
    • (2006) J Am Acad Dermatol , vol.55 , pp. 157-61
    • Essoy-Evans, S.1    Erkin, G.2    Fassihi, H.3
  • 17
    • 25144470287 scopus 로고    scopus 로고
    • Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome
    • Wessagowit V, McGrath JA. Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol (Stockh) 2005 85 : 386 8.
    • (2005) Acta Derm Venereol (Stockh) , vol.85 , pp. 386-8
    • Wessagowit, V.1    McGrath, J.A.2
  • 18
    • 0023506138 scopus 로고
    • Antidesmosomal monoclonal antibody in the diagnosis of intracranial tumours
    • Parrish EP, Steart PV, Garrod DR et al. Antidesmosomal monoclonal antibody in the diagnosis of intracranial tumours. J Pathol 1987 153 : 265 73.
    • (1987) J Pathol , vol.153 , pp. 265-73
    • Parrish, E.P.1    Steart, P.V.2    Garrod, D.R.3
  • 19
    • 0033384394 scopus 로고    scopus 로고
    • A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes
    • McGrath JA. A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes. J Dermatol 1999 26 : 764 9.
    • (1999) J Dermatol , vol.26 , pp. 764-9
    • McGrath, J.A.1
  • 20
    • 0032988426 scopus 로고    scopus 로고
    • Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
    • McGrath JA, Hoeger PH, Christiano AM et al. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol 1999 140 : 297 307.
    • (1999) Br J Dermatol , vol.140 , pp. 297-307
    • McGrath, J.A.1    Hoeger, P.H.2    Christiano, A.M.3
  • 21
    • 0035105313 scopus 로고    scopus 로고
    • Hair on a gene string: Recent advances in understanding the molecular genetics of hair loss
    • Ivine AD, Christiano AM. Hair on a gene string: recent advances in understanding the molecular genetics of hair loss. Exp Dermatol 2001 26 : 59 71.
    • (2001) Exp Dermatol , vol.26 , pp. 59-71
    • Ivine, A.D.1    Christiano, A.M.2
  • 22
    • 0033832770 scopus 로고    scopus 로고
    • Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
    • Whittock NV, Haftek M, Angoulvant N et al. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol 2000 115 : 368 74.
    • (2000) J Invest Dermatol , vol.115 , pp. 368-74
    • Whittock, N.V.1    Haftek, M.2    Angoulvant, N.3
  • 23
    • 84988113058 scopus 로고
    • Palmoplantar keratoderma, curly hair and endomyocardial fibrodysplasia: A new syndrome
    • Barker JNW, Protonatorios N, Tsatópoulou A et al. Palmoplantar keratoderma, curly hair and endomyocardial fibrodysplasia: a new syndrome. Br J Dermatol 1983 119 (Suppl. 33 13 40.
    • (1983) Br J Dermatol , vol.119 , Issue.SUPPL. 33 , pp. 13-40
    • Barker, J.N.W.1    Protonatorios, N.2    Tsatópoulou, A.3
  • 24
    • 0028110879 scopus 로고
    • Clinical heterogeneity in epidermolytic hyperkeratosis
    • DiGiovanna JJ, Bale SJ. Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol 1994 130 : 1026 35.
    • (1994) Arch Dermatol , vol.130 , pp. 1026-35
    • Digiovanna, J.J.1    Bale, S.J.2
  • 25
    • 85047691380 scopus 로고
    • Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: Report of a family
    • Tosti A, Misciali C, Piraccini BM et al. Woolly hair, palmoplantar keratoderma, and cardiac abnormalities: report of a family. Arch Dermatol 1994 130 : 522 4.
    • (1994) Arch Dermatol , vol.130 , pp. 522-4
    • Tosti, A.1    Misciali, C.2    Piraccini, B.M.3
  • 26
    • 24144459583 scopus 로고    scopus 로고
    • Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome
    • Bergman R, Sprecher E. Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. Am J Dermatopathol 2005 27 : 333 8.
    • (2005) Am J Dermatopathol , vol.27 , pp. 333-8
    • Bergman, R.1    Sprecher, E.2
  • 27
    • 25144445920 scopus 로고    scopus 로고
    • Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome
    • Zheng R, Bu DF, Zhu XJ. Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol (Stockh) 2005 85 : 394 9.
    • (2005) Acta Derm Venereol (Stockh) , vol.85 , pp. 394-9
    • Zheng, R.1    Bu, D.F.2    Zhu, X.J.3
  • 28
    • 0041342100 scopus 로고    scopus 로고
    • Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1
    • McMillan JR, Haftek M, Akiyama M et al. Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol 2003 123 : 96 103.
    • (2003) J Invest Dermatol , vol.123 , pp. 96-103
    • McMillan, J.R.1    Haftek, M.2    Akiyama, M.3
  • 29
    • 1642315423 scopus 로고    scopus 로고
    • Plakophilin 1: An important stabilizer of desmosomes
    • South AP. Plakophilin 1: an important stabilizer of desmosomes. Clin Exp Dermatol 2004 29 : 161 7.
    • (2004) Clin Exp Dermatol , vol.29 , pp. 161-7
    • South, A.P.1
  • 30
    • 2942756373 scopus 로고    scopus 로고
    • Carte chromosomique et biologie moléculaire des génodermatoses
    • In. Saurat, J.H. Grosshans, E. Laugier, P. Lachapelle, J.M. eds). 4th edn. Paris. Masson
    • Happle R. Carte chromosomique et biologie moléculaire des génodermatoses. In : Dermatologie et Infections Sexuellement Transmissibles (Saurat JH, Grosshans E, Laugier P, Lachapelle JM, eds). 4th edn. Paris : Masson, 2004 478 85.
    • (2004) Dermatologie et Infections Sexuellement Transmissibles , pp. 478-85
    • Happle, R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.