메뉴 건너뛰기




Volumn 153, Issue 5, 2005, Pages 1058-1063

Transient bullous dermolysis of the newborn in three generations

Author keywords

COL7A1; Dystrophic epidermolysis bullosa; Transient bullous dermolysis of the newborn; Type VII collagen

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; BULLOUS SKIN DISEASE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE COURSE; DNA FLANKING REGION; EXON; FAMILY HISTORY; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC COUNSELING; HUMAN; INFANT; LABORATORY TEST; MALE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY;

EID: 27544507005     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06873.x     Document Type: Article
Times cited : (39)

References (28)
  • 2
    • 0024426445 scopus 로고
    • Transient bullous dermolysis of the newborn: Two additional cases
    • Hashimoto K, Burk J, Bale G et al. Transient bullous dermolysis of the newborn: two additional cases. J Am Acad Dermatol 1989; 21:708-13.
    • (1989) J Am Acad Dermatol , vol.21 , pp. 708-713
    • Hashimoto, K.1    Burk, J.2    Bale, G.3
  • 3
    • 0025279994 scopus 로고
    • Intraepidermal type VII collagen: Evidence of abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localised recessive forms of recessive dystrophic epidermolysis bullosa
    • Fine JD, Horiguchi Y, Stein DH et al. Intraepidermal type VII collagen: evidence of abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localised recessive forms of recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol 1990; 22:188-95.
    • (1990) J Am Acad Dermatol , vol.22 , pp. 188-195
    • Fine, J.D.1    Horiguchi, Y.2    Stein, D.H.3
  • 4
    • 0026069865 scopus 로고
    • Transient bullous dermolysis of the new born. Case report and review of pathogenesis
    • Eng AM, Keegan CA, Hashimoto K et al. Transient bullous dermolysis of the new born. Case report and review of pathogenesis. J Cutan Pathol 1991; 18:328-32.
    • (1991) J Cutan Pathol , vol.18 , pp. 328-332
    • Eng, A.M.1    Keegan, C.A.2    Hashimoto, K.3
  • 5
    • 0025977377 scopus 로고
    • Dominant dystrophic epidermolysis bullosa with intraepidermal type VII collagen
    • McCollough ML, Grimwood RE, Grabski WJ. Dominant dystrophic epidermolysis bullosa with intraepidermal type VII collagen. J Am Acad Dermatol 1991; 24:512.
    • (1991) J Am Acad Dermatol , vol.24 , pp. 512
    • McCollough, M.L.1    Grimwood, R.E.2    Grabski, W.J.3
  • 6
    • 0026589045 scopus 로고
    • Intraepidermal collagen type VII in dystrophic epidermolysis bullosa. Report of five new cases
    • Phillips RJ, Harper JI, Lane BD. Intraepidermal collagen type VII in dystrophic epidermolysis bullosa. Report of five new cases. Br J Dermatol 1992; 126:222-30.
    • (1992) Br J Dermatol , vol.126 , pp. 222-230
    • Phillips, R.J.1    Harper, J.I.2    Lane, B.D.3
  • 7
    • 0027051637 scopus 로고
    • Transient bullous dermolysis of the newborn. Retention of anchoring fibril- and basal lamina-like structures in keratinocytes and evidence of collagenolysis
    • Hashimoto K, Eng AM. Transient bullous dermolysis of the newborn. Retention of anchoring fibril- and basal lamina-like structures in keratinocytes and evidence of collagenolysis. J Cuton Pathol 1992; 19:496-501.
    • (1992) J Cuton Pathol , vol.19 , pp. 496-501
    • Hashimoto, K.1    Eng, A.M.2
  • 8
    • 0027179506 scopus 로고
    • Transient bullous dermolysis of the newborn: New pathologic findings
    • Okuda C, Hiroshi F. Transient bullous dermolysis of the newborn: new pathologic findings. Arch Dermatol 1993; 129:1209-10.
    • (1993) Arch Dermatol , vol.129 , pp. 1209-1210
    • Okuda, C.1    Hiroshi, F.2
  • 9
    • 0027260846 scopus 로고
    • Intracytoplasmic retention of type VII collagen and dominant dystrophic epidemolysis bullosa: Reversal of defect following cessation of or marked improvement of disease activity
    • Fine JD, Johnson LB, Cronce D et al. Intracytoplasmic retention of type VII collagen and dominant dystrophic epidemolysis bullosa: reversal of defect following cessation of or marked improvement of disease activity. J Invest Dermatol 1993; 101:232-6.
    • (1993) J Invest Dermatol , vol.101 , pp. 232-236
    • Fine, J.D.1    Johnson, L.B.2    Cronce, D.3
  • 10
    • 0028304104 scopus 로고
    • Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa
    • Gedde-Dahl T Jr, Winberg JO. Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa. Br J Dermatol 1994; 130:685-6.
    • (1994) Br J Dermatol , vol.130 , pp. 685-686
    • Gedde-Dahl Jr., T.1    Winberg, J.O.2
  • 11
    • 0028851691 scopus 로고
    • Spontaneous disappearance of intraepidermal type VII collagen in a patient with dystrophic epidermolysis bullosa
    • Hatta N, Takata M, Shimizu H. Spontaneous disappearance of intraepidermal type VII collagen in a patient with dystrophic epidermolysis bullosa. Br J Dermatol 1995; 133:619-24.
    • (1995) Br J Dermatol , vol.133 , pp. 619-624
    • Hatta, N.1    Takata, M.2    Shimizu, H.3
  • 12
    • 0031453230 scopus 로고    scopus 로고
    • Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: A splice site mutation in the type VII collagen gene
    • Christiano AM, Fine JD, Uitto J. Genetic basis of dominantly inherited transient bullous dermolysis of the newborn: a splice site mutation in the type VII collagen gene. J Invest Dermatol 1997; 109:844-4.
    • (1997) J Invest Dermatol , vol.109 , pp. 844-844
    • Christiano, A.M.1    Fine, J.D.2    Uitto, J.3
  • 13
    • 0032457478 scopus 로고    scopus 로고
    • Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations
    • Hammami-Hauasli N, Raghunath M, Küster W et al. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. J Invest Dermatol 1998; 111:1214-19.
    • (1998) J Invest Dermatol , vol.111 , pp. 1214-1219
    • Hammami-Hauasli, N.1    Raghunath, M.2    Küster, W.3
  • 14
    • 0032968331 scopus 로고    scopus 로고
    • Three new cases of transient bullous dermolysis of the newborn
    • Hanson SG, Fine JD, Levy ML. Three new cases of transient bullous dermolysis of the newborn. J Am Acad Dermatol 1999; 40:471-6.
    • (1999) J Am Acad Dermatol , vol.40 , pp. 471-476
    • Hanson, S.G.1    Fine, J.D.2    Levy, M.L.3
  • 15
    • 0022388641 scopus 로고
    • Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa
    • Kennedy AR, Heagerty AHM, Ortonne JP et al. Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa. Br J Dermatol 1985; 113:651-9.
    • (1985) Br J Dermatol , vol.113 , pp. 651-659
    • Kennedy, A.R.1    Heagerty, A.H.M.2    Ortonne, J.P.3
  • 16
    • 0031044043 scopus 로고    scopus 로고
    • The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa
    • McGrath JA, Eady RAJ. The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa. J Dermatol Sci 1997; 14:68-75.
    • (1997) J Dermatol Sci , vol.14 , pp. 68-75
    • McGrath, J.A.1    Eady, R.A.J.2
  • 17
    • 0022455275 scopus 로고
    • Identification of an epidermal basement membrane defect in recessive form of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: Use in diagnosis
    • Heagerty AHM, Kennedy AR, Leigh IM. Identification of an epidermal basement membrane defect in recessive form of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis. Br J Dermatol 1986; 115:125-31.
    • (1986) Br J Dermatol , vol.115 , pp. 125-131
    • Heagerty, A.H.M.1    Kennedy, A.R.2    Leigh, I.M.3
  • 18
    • 0030853052 scopus 로고    scopus 로고
    • Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa
    • Christiano AM, Huffman GG, Zhang X et al. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 1997; 10:408-14.
    • (1997) Hum Mutat , vol.10 , pp. 408-414
    • Christiano, A.M.1    Huffman, G.G.2    Zhang, X.3
  • 19
    • 0032834881 scopus 로고    scopus 로고
    • Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis
    • Whittock NV, Ashton GH, Mohammedi R et al. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. J Invest Dermatol 1999; 113:673-86.
    • (1999) J Invest Dermatol , vol.113 , pp. 673-686
    • Whittock, N.V.1    Ashton, G.H.2    Mohammedi, R.3
  • 20
    • 0028234038 scopus 로고
    • Epidermolysis bullosa pruriginosa: Dystrophic epidermolysis bullosa with distinctive clinicopathological features
    • McGrath JA, Schofield OM, Eady RAJ. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130:617-25.
    • (1994) Br J Dermatol , vol.130 , pp. 617-625
    • McGrath, J.A.1    Schofield, O.M.2    Eady, R.A.J.3
  • 21
    • 16844370056 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: When missense doesn't make sense
    • Wessagowit V, Kim S-C, Oh SW, McGrath JA. Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. J Invest Dermatol 2005; 124:863-6.
    • (2005) J Invest Dermatol , vol.124 , pp. 863-866
    • Wessagowit, V.1    Kim, S.-C.2    Oh, S.W.3    McGrath, J.A.4
  • 22
    • 0023882839 scopus 로고
    • Ontogeny of structural components of dermal-epidermal junction in human embryonic and fetal skin: The appearance of anchoring fibrils and type VII collagen
    • Smith LT, Sakai LY, Burgeson RE et al. Ontogeny of structural components of dermal-epidermal junction in human embryonic and fetal skin: the appearance of anchoring fibrils and type VII collagen. J Invest Dermatol 1988; 90:480-5.
    • (1988) J Invest Dermatol , vol.90 , pp. 480-485
    • Smith, L.T.1    Sakai, L.Y.2    Burgeson, R.E.3
  • 23
    • 0026686847 scopus 로고
    • Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin
    • McGrath JA, Leigh IM, Eady RAJ. Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin. Br J Dermatol 1992; 127:312-17.
    • (1992) Br J Dermatol , vol.127 , pp. 312-317
    • McGrath, J.A.1    Leigh, I.M.2    Eady, R.A.J.3
  • 24
    • 0032997855 scopus 로고    scopus 로고
    • Intraepidermal expression of basement membrane components in lesional skin of a patient with dystrophic epidermolysis bullosa
    • Muramatsu T, Ko T, Honoki K et al. Intraepidermal expression of basement membrane components in lesional skin of a patient with dystrophic epidermolysis bullosa. J Dermatol 1999; 26: 106-10.
    • (1999) J Dermatol , vol.26 , pp. 106-110
    • Muramatsu, T.1    Ko, T.2    Honoki, K.3
  • 25
    • 0027958259 scopus 로고
    • Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosa
    • Konig A, Raghunath M, Steinmann B et al. Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosa. J Invest Dermatol 1994; 102:105-10.
    • (1994) J Invest Dermatol , vol.102 , pp. 105-110
    • Konig, A.1    Raghunath, M.2    Steinmann, B.3
  • 26
    • 0025117811 scopus 로고
    • Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa
    • Smith LT, Sybert VP. Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1990; 94:261-4.
    • (1990) J Invest Dermatol , vol.94 , pp. 261-264
    • Smith, L.T.1    Sybert, V.P.2
  • 27
    • 0037127254 scopus 로고    scopus 로고
    • The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa
    • Chen M, Costa FK, Lindvay CR et al. The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa. J Biol Chem 2002; 277:2118-24.
    • (2002) J Biol Chem , vol.277 , pp. 2118-2124
    • Chen, M.1    Costa, F.K.2    Lindvay, C.R.3
  • 28
    • 12844278730 scopus 로고    scopus 로고
    • Single amino acid substitutions in procollagen VII affects early stages of assembly of anchoring fibrils
    • Brittingham R, Colombo M, Ito H et al. Single amino acid substitutions in procollagen VII affects early stages of assembly of anchoring fibrils. J Biol Chem 2005; 280:191-8.
    • (2005) J Biol Chem , vol.280 , pp. 191-198
    • Brittingham, R.1    Colombo, M.2    Ito, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.