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Volumn 78, Issue 2, 1998, Pages 127-133

Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: Histopathological delineation of an autosomal recessive disease

Author keywords

Aplasia cutis congenita; Autosomal recessive; Epidermolysis bullosa; Histology; Pathophysiology; Pyloric atresia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; EPIDERMOLYSIS BULLOSA; FEMALE; HUMAN; HUMAN TISSUE; ISRAEL; MALE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PYLORUS STENOSIS; SKIN APLASIA;

EID: 0032581126     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980630)78:2<127::AID-AJMG6>3.0.CO;2-L     Document Type: Article
Times cited : (42)

References (39)
  • 1
    • 0026698731 scopus 로고
    • Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: The diagnostic role of prenatal ultrasonography
    • Achiron R, Hamiel-Pinchas O, Engelberg S, Barkai G, Reichman B, Mashiach S (1992): Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: The diagnostic role of prenatal ultrasonography. Prenat Diagn 12:765-771.
    • (1992) Prenat Diagn , vol.12 , pp. 765-771
    • Achiron, R.1    Hamiel-Pinchas, O.2    Engelberg, S.3    Barkai, G.4    Reichman, B.5    Mashiach, S.6
  • 2
    • 0018851208 scopus 로고
    • An unusual case of EB hereditaria letalis with cutaneous scarring and pyloric atresia
    • Adashi EY, Louis FJ, Vasquez M (1980): An unusual case of EB hereditaria letalis with cutaneous scarring and pyloric atresia. J Pediatr 96:443-446.
    • (1980) J Pediatr , vol.96 , pp. 443-446
    • Adashi, E.Y.1    Louis, F.J.2    Vasquez, M.3
  • 4
    • 33749798874 scopus 로고
    • The mechanobullous diseases (epidermolysis bullosa)
    • Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF (eds): New York: McGraw-Hill
    • Bauer EA, Briggaman RA (1979): The mechanobullous diseases (epidermolysis bullosa) In Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF (eds): "Dermatology in General Medicine," 2nd Ed. New York: McGraw-Hill, pp. 334-347.
    • (1979) "Dermatology in General Medicine," 2nd Ed. , pp. 334-347
    • Bauer, E.A.1    Briggaman, R.A.2
  • 5
    • 0022570364 scopus 로고
    • Junctional epidermolysis bullosa, pyloric atresia and genitourinary disease
    • Berger TG, Detlefs RL, Donatucci CF (1986): Junctional epidermolysis bullosa, pyloric atresia and genitourinary disease. Pediatr Dermatol 3:130-134.
    • (1986) Pediatr Dermatol , vol.3 , pp. 130-134
    • Berger, T.G.1    Detlefs, R.L.2    Donatucci, C.F.3
  • 6
    • 0006299951 scopus 로고
    • Aplasia cutis congenita: The Carmi syndrome: Confirmation of a new neonatal generalized skin disorder. Smith conference
    • Carey JC, Bose CL, Piepkorn MW (1983): Aplasia cutis congenita: The Carmi syndrome: Confirmation of a new neonatal generalized skin disorder. Smith conference (Abstract). Proc Greenwood Genet Center 2: 116-117.
    • (1983) Proc Greenwood Genet Center , vol.2 , pp. 116-117
    • Carey, J.C.1    Bose, C.L.2    Piepkorn, M.W.3
  • 8
    • 0021050923 scopus 로고
    • Pyloric atresia associated with epidermolysis bullosa: Special reference to pathogenesis
    • Chang CH, Perrin EV, Bove KE (1983): Pyloric atresia associated with epidermolysis bullosa: Special reference to pathogenesis. Pediatr Pathol 1:449-457.
    • (1983) Pediatr Pathol , vol.1 , pp. 449-457
    • Chang, C.H.1    Perrin, E.V.2    Bove, K.E.3
  • 10
    • 0013841022 scopus 로고
    • Epidermolysis bullosa
    • Davison BCC (1965): Epidermolysis bullosa. J Med Genet 2:233-242.
    • (1965) J Med Genet , vol.2 , pp. 233-242
    • Davison, B.C.C.1
  • 11
    • 0016798983 scopus 로고
    • Clinical aspects of congenital skin defects
    • Demmel U (1975): Clinical aspects of congenital skin defects. Europ J Pediat 121:21-50.
    • (1975) Europ J Pediat , vol.121 , pp. 21-50
    • Demmel, U.1
  • 12
    • 0027163258 scopus 로고
    • Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein
    • Dolan CR, Smith LT, Sybert VP (1983): Prenatal detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein. Am J Med Genet 47:395-400.
    • (1983) Am J Med Genet , vol.47 , pp. 395-400
    • Dolan, C.R.1    Smith, L.T.2    Sybert, V.P.3
  • 13
    • 0021835940 scopus 로고
    • Junctional epidermolysis bullosa and pyloric atresia in two sibling
    • Egan N, Ward R, Olmstead M, Marks JG Jr. (1985): Junctional epidermolysis bullosa and pyloric atresia in two sibling. Arch Dermatol 121: 1186-1188.
    • (1985) Arch Dermatol , vol.121 , pp. 1186-1188
    • Egan, N.1    Ward, R.2    Olmstead, M.3    Marks Jr., J.G.4
  • 14
    • 0018289080 scopus 로고
    • Pyloric atresia and epidermolysis bullosa letalis: A lethal combination in two premature newborn siblings
    • El Shafie M, Stidham GL, Klippel, CH, Katzman GH, Weinfeld IJ (1979): Pyloric atresia and epidermolysis bullosa letalis: A lethal combination in two premature newborn siblings. J Pediatr Surg 14:446-449.
    • (1979) J Pediatr Surg , vol.14 , pp. 446-449
    • El Shafie, M.1    Stidham, G.L.2    Klippel, C.H.3    Katzman, G.H.4    Weinfeld, I.J.5
  • 16
    • 0022655534 scopus 로고
    • Aplasia cutis congenita: A clinical review and proposal for classification
    • Frieden IJ (1986): Aplasia cutis congenita: A clinical review and proposal for classification. J Am Acad Dermatol 14:646-660.
    • (1986) J Am Acad Dermatol , vol.14 , pp. 646-660
    • Frieden, I.J.1
  • 17
    • 0027318904 scopus 로고
    • Redistribution of the hemidesmosome component of α6β4 integrin and bullous pemphigoid antigens during epithelial wound healing
    • Gipson IK, Spurr-Michaud S, Tisdale A, Elwell J, Stepp MA (1993): Redistribution of the hemidesmosome component of α6β4 integrin and bullous pemphigoid antigens during epithelial wound healing. Exp Cell Res 207:86-98.
    • (1993) Exp Cell Res , vol.207 , pp. 86-98
    • Gipson, I.K.1    Spurr-Michaud, S.2    Tisdale, A.3    Elwell, J.4    Stepp, M.A.5
  • 18
    • 0026347801 scopus 로고
    • Congenital pyloric atresia and junctional epidermolysis bullosa: A report of long term survival and a review of the literature
    • Hayashi AH, Galliani CA, Gillis DA (1991): Congenital pyloric atresia and junctional epidermolysis bullosa: A report of long term survival and a review of the literature. J Pediatr Surg 11:1341-1345.
    • (1991) J Pediatr Surg , vol.11 , pp. 1341-1345
    • Hayashi, A.H.1    Galliani, C.A.2    Gillis, D.A.3
  • 19
    • 0026645172 scopus 로고
    • Aberrant integrin expression during epidermal wound healing and in psoriatic epidermis
    • Hertle MD, Kubler MD, Leigh IM, Watt FM (1992): Aberrant integrin expression during epidermal wound healing and in psoriatic epidermis. J Clin Invest 89:1982-1901.
    • (1992) J Clin Invest , vol.89 , pp. 1982-11901
    • Hertle, M.D.1    Kubler, M.D.2    Leigh, I.M.3    Watt, F.M.4
  • 20
    • 0020614785 scopus 로고
    • Acquired pyloric obstruction in a patient with epidermolysis bullosa letalis
    • Honig PJ, Yoder M, Ziegler M (1983): Acquired pyloric obstruction in a patient with epidermolysis bullosa letalis. J Pediatr 102:598-600.
    • (1983) J Pediatr , vol.102 , pp. 598-600
    • Honig, P.J.1    Yoder, M.2    Ziegler, M.3
  • 21
    • 0026770377 scopus 로고
    • Integrins: Versatility, modulation and signaling in cell adhesion
    • Hynes RO (1992): Integrins: Versatility, modulation and signaling in cell adhesion. Cell 69:11-25.
    • (1992) Cell , vol.69 , pp. 11-25
    • Hynes, R.O.1
  • 23
    • 0026334607 scopus 로고    scopus 로고
    • Surface relocation of α6β4 integrins and assembly of hemidesmosomes in an in vitro model of wound healing
    • 91991
    • Kurpakus MA, Quaranta V, Jones JC 91991): Surface relocation of α6β4 integrins and assembly of hemidesmosomes in an in vitro model of wound healing. J Cell Biol 115:1737-1750.
    • J Cell Biol , vol.115 , pp. 1737-1750
    • Kurpakus, M.A.1    Quaranta, V.2    Jones, J.C.3
  • 24
    • 0026594009 scopus 로고
    • Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antero-pylorid atresia: A new variant of junctional epidermolysis bullosa?
    • Lacour JP, Hoffman P, Bastiani-Griffet F, Boutte P, Pisani A, Ortonne JP (1992): Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antero-pylorid atresia: A new variant of junctional epidermolysis bullosa? Eur J Pediatr 151:252-257.
    • (1992) Eur J Pediatr , vol.151 , pp. 252-257
    • Lacour, J.P.1    Hoffman, P.2    Bastiani-Griffet, F.3    Boutte, P.4    Pisani, A.5    Ortonne, J.P.6
  • 25
    • 0027217908 scopus 로고
    • Expression of integrins and basement membrane components by wound keratinocytes
    • Larjava H, Salo T, Haapasalmi K, Kramer RH, Heino J (1993): Expression of integrins and basement membrane components by wound keratinocytes. J Clin Invest 92:1425-1453.
    • (1993) J Clin Invest , vol.92 , pp. 1425-1453
    • Larjava, H.1    Salo, T.2    Haapasalmi, K.3    Kramer, R.H.4    Heino, J.5
  • 27
    • 0026756402 scopus 로고
    • The pyrloric atresia-junctional epidermolysis bullosa syndrome
    • Lestringant GG, Akel SR, Qayed KI (1992): The pyrloric atresia-junctional epidermolysis bullosa syndrome. Arch Dermatol 128:1083-1086.
    • (1992) Arch Dermatol , vol.128 , pp. 1083-1086
    • Lestringant, G.G.1    Akel, S.R.2    Qayed, K.I.3
  • 28
    • 0021699051 scopus 로고
    • Epidermolysis bullosa and amniotic bands
    • Marras A, Dessi C, Macciotta A (1984): Epidermolysis bullosa and amniotic bands. Am J Med Genet 19:815-817.
    • (1984) Am J Med Genet , vol.19 , pp. 815-817
    • Marras, A.1    Dessi, C.2    Macciotta, A.3
  • 30
    • 0025047598 scopus 로고
    • The snowflake sign: A sonographic marker for prenatal detection of fetal skin denudation
    • Meizner I, Carmi R [1990]: The snowflake sign: A sonographic marker for prenatal detection of fetal skin denudation. J Ultrasound Med 9:607-609.
    • (1990) J Ultrasound Med , vol.9 , pp. 607-609
    • Meizner, I.1    Carmi, R.2
  • 31
    • 0024688166 scopus 로고
    • Herlitz syndrome and "pyloric atresia."
    • Muller H, Bode H, Krone C (1989): Herlitz syndrome and "pyloric atresia." Helv Pediatr Acta 43:457-466.
    • (1989) Helv Pediatr Acta , vol.43 , pp. 457-466
    • Muller, H.1    Bode, H.2    Krone, C.3
  • 34
    • 0019817561 scopus 로고
    • Epidermolysis bullosa letalis associated with congenital pyloric atresia
    • Peltier FA, Tschen EH, Raimer SS, Kuo TT (1981): Epidermolysis bullosa letalis associated with congenital pyloric atresia. Arch Dermatol 117: 728-732.
    • (1981) Arch Dermatol , vol.117 , pp. 728-732
    • Peltier, F.A.1    Tschen, E.H.2    Raimer, S.S.3    Kuo, T.T.4
  • 35
    • 0028292380 scopus 로고
    • Antigenic expression of integrin α6β4 in junctional epidermolysis bullosa
    • Phillips RJ, Aplin JD, Lake BD (1994): Antigenic expression of integrin α6β4 in junctional epidermolysis bullosa. Histopathology 24:571-576.
    • (1994) Histopathology , vol.24 , pp. 571-576
    • Phillips, R.J.1    Aplin, J.D.2    Lake, B.D.3
  • 36
    • 0000020944 scopus 로고
    • Symmetrical congenital skin defects in sibs
    • Swinburne L, Kohler HG (1968): Symmetrical congenital skin defects in sibs. Arch Dis Child 43:499.
    • (1968) Arch Dis Child , vol.43 , pp. 499
    • Swinburne, L.1    Kohler, H.G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.