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Epidermolysis Bullosa pp 37–62Cite as

Pathology and Pathogenesis of Epidermolysis Bullosa

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Abstract

At least 23 distinctive phenotypes of inherited epidermolysis bullosa (EB) have now been reported; more undoubtedly exist.1–5 Despite that, each can be separated into one of three broad groups—simplex, junctional, and dystrophic EB—based on shared pathologic features. These specific ultrastructural findings are in some forms of EB accompanied by selective defects in expression of basement membrane or epidermal cell surface antigens or epitopes.

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References

  1. Gedde-Dahl T Jr. Epidermolysis Bullosa. A clinical, Genetic and Epidemiologic Study. Baltimore: The Johns Hopkins Press; 1971.

    Google Scholar 

  2. Gedde-Dahl T Jr. Sixteen types of epidermolysis. On the clinical discrimination, therapy, and prenatal diagnosis. Acta Derm (Stockh). 1981; suppl 95:74–87.

    Google Scholar 

  3. Pearson RW. Clinicopathologic types of epidermolysis bullosa and their nondermatological complications. Arch Dermatol. 1988; 124:718–725.

    Article  PubMed  CAS  Google Scholar 

  4. Fine J-D. Epidermolysis Bullosa. In: Demis DJ, ed. Clinical Dermatology. Philadelphia: Harper & Row Publishers; 1991:1–31.

    Google Scholar 

  5. 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;24:119–135.

    Article  PubMed  CAS  Google Scholar 

  6. Pearson RW. Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol. 1962;39:551–575.

    Article  PubMed  CAS  Google Scholar 

  7. Pearson RW. Histopathologic and ultrastructural findings in certain genodermatoses. Clin Dermatol. 1985;3:143–174.

    Article  PubMed  CAS  Google Scholar 

  8. Haneke E, Anton-Lamprecht I. Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne. J Invest Dermatol. 1982;78:219–223.

    Article  PubMed  CAS  Google Scholar 

  9. Anton-Lamprecht I, Schnyder UW. Epidermolysis bullosa herpetiformis Dowling-Meara: a report of a case and pathomorphogenesis. Dermatologica. 1982;164:221–235.

    Article  PubMed  CAS  Google Scholar 

  10. Buchbinder LH, Lucky AW, Ballard E, et al. Severe infantile epidermolysis bullosa simplex: Dowling-Meara type. Arch Dermatol. 1986; 122:190–198.

    Article  PubMed  CAS  Google Scholar 

  11. Pearson RW, Potter B, Strauss F. Epidermolysis bullosa hereditaria letalis: clinical and histological manifestations and course of the disease. Arch Dermatol. 1974; 109:349–355.

    Article  PubMed  CAS  Google Scholar 

  12. Hashimoto I, Schnyder UW, Anton-Lamprecht I. Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica. 1976; 152:72–86.

    Article  PubMed  CAS  Google Scholar 

  13. Anton-Lamprecht I, Schnyder UW. Zur Ultrastruktur der epidermolysen mit junktionaler blasenbildung. Dermatologica. 1979;159:377–382.

    Article  PubMed  CAS  Google Scholar 

  14. Schachner L, Lazarus GS, Dembitzer H. Epidermolysis bullosa hereditaria letalis: pathology, natural history, and therapy. Br J Dermatol. 1977; 96:51–58.

    Article  PubMed  CAS  Google Scholar 

  15. Palier AS, Fine J-D, Kaplan S, Pearson RW. The generalized atrophic benign form of junctional epidermolysis bullosa: experience with four patients in the United States. Arch Dermatol. 1986; 122:704–710.

    Article  Google Scholar 

  16. Hashimoto I, Gedde-Dahl T Jr., Schnyder UW, Anton-Lamprecht I. Ultrastructural studies in epidermolysis bullosa hereditaria. IV. Recessive dystrophic types with junctional blistering (infantile or Herlitz-Pearson type and adult type). Arch Dermatol Res. 1976; 257:17–32.

    Article  PubMed  CAS  Google Scholar 

  17. Hashimoto I, Anton-Lamprecht I, Gedde-Dahl T Jr, Schnyder UW. Ultrastructural studies in epidermolysis bullosa hereditaria I: Dominant dystronhic type of Pasini. Arch Dermatol Res. 1975; 252:167–178.

    Article  CAS  Google Scholar 

  18. Hashimoto I, Gedde-Dahl T Jr, Schnyder UW, Anton-Lamprecht I. Ultrastructural studies in epidermolysis bullosa: II. Dominant dystrophic type of Cockayne and Touraine. Arch Dermatol Res. 1976; 255:285–295.

    Article  PubMed  CAS  Google Scholar 

  19. Hashimoto I, Schnyder UW, Anton-Lamprecht I, Gedde-Dahl T Jr, Ward S. Ultrastructural studies in epidermolysis bullosa hereditaria: III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type). Arch Dermatol Res. 1976;256:137–150.

    Article  PubMed  CAS  Google Scholar 

  20. Tidman MJ, Eady RAJ. Dystrophic epidermolysis bullosa: ultrastructural morphometry of the dermo-epidermal junction. J Invest Dermatol. 1983; 80:342.

    Google Scholar 

  21. Tidman MJ, Eady RAJ. Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis by a quantitative ultrastructural technique. J Invest Dermatol. 1985; 84:374–377.

    Article  PubMed  CAS  Google Scholar 

  22. Hashimoto K, Matsumoto M, Iacobelli D. Transient bullous dermolysis of the newborn. Arch Dermatol. 1985; 121:1429–1438.

    Article  PubMed  CAS  Google Scholar 

  23. Hashimoto K, Burk JD, Bale GF, et al. Transient bullous dermolysis of the newborn: two additional cases. J Am Acad Dermatol. 1989; 21:708–713.

    Article  PubMed  CAS  Google Scholar 

  24. Fine JD. Epidermolysis bullosa: clinical aspects, pathology, and recent advances in research. Int J Dermatol. 1986; 25:143–157.

    Article  PubMed  CAS  Google Scholar 

  25. Hintner H, Stingi G, Schuler G, et al. Immunofluoresence mapping of antigenic determinants within the dermal-epidermal junction in mechanobullous diseases. J Invest Dermatol. 1981; 76:113–118.

    Article  PubMed  CAS  Google Scholar 

  26. Mutasim DF, Takahashi Y, Labib RS, Anhalt GJ, Patel HP, Diaz LA. A pool of bullous pemphigoid antigen(s) is intracellular and associated with basal cell cytoskeleton-hemidesmosome complex. J Invest Dermatol. 1985;84:47–53.

    Article  PubMed  CAS  Google Scholar 

  27. Westgate GE, Weaver AC, Couchman JR. Bullous pemphigoid antigen localization suggests an intracellular association with hemidesmosomes. J Invest Dermatol. 1985;84:218–224.

    Article  PubMed  CAS  Google Scholar 

  28. Foidart J-M, Bere EW, Yaar M, et al. Distribution and immunoelectron microscopic localization of laminin, a non-collagenous basement membrane glycoprotein. Lab Invest. 1980;42:336–342.

    PubMed  CAS  Google Scholar 

  29. Laurie GW, Leblond CP, Martin GR. Localization of type IV collagen, laminin, heparan sulfate proteoglycan and fibronectin to the basal lamina of the basement membranes. J Cell Biol. 1982; 95:340–344.

    Article  PubMed  CAS  Google Scholar 

  30. Fleischmajer R, Timpl R, Dziadek M, Lebwohl M. Basement membrane proteins, interstitial collagens, and fibronectin in neurofibroma. J Invest Dermatol. 1985;85:54–59.

    Article  PubMed  CAS  Google Scholar 

  31. Horiguchi Y, Abrahamson D, Fine J-D. Epitope mapping of the laminin molecule in murine skin basement membrane zone: demonstration of spatial differences in ultrastructural localization. J Invest Dermatol. 1991; 96:309–313.

    Article  PubMed  CAS  Google Scholar 

  32. Yaoita H, Foidart J-M, Katz S. Localization of the collagenous component in skin basement membrane. J Invest Dermatol. 1978; 70:191–193.

    Article  PubMed  CAS  Google Scholar 

  33. Tidman MJ, Eady RAJ. Ultrastructural morphometry of normal human dermalepidermal junction: the influence of age, sex, and body region on laminar and nonlaminar components. J Invest Dermatol. 1984; 83:448–453.

    Article  PubMed  CAS  Google Scholar 

  34. Tidman MJ, Eady RAJ. Hemidesmosomes herterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol. 1986; 86:51–56.

    Article  PubMed  CAS  Google Scholar 

  35. Eisen AZ. Human skin collagenase: relationship to the pathogenesis of epidermolysis bullosa dystrophica. J Invest Dermatol. 1969; 52:449–453.

    PubMed  CAS  Google Scholar 

  36. Lazarus GS. Collagenase and connective tissue metabolism in epidermolysis bullosa. J Invest Dermatol. 1972; 58:242–248.

    Article  PubMed  CAS  Google Scholar 

  37. Bauer EA, Gedde-Dahl T Jr, Eisen AZ. The role of human skin collagenase in epidermolysis bullosa. J Invest Dermatol. 1977; 68:119–124.

    Article  PubMed  CAS  Google Scholar 

  38. Bauer EA, Eisen AZ. Recessive dystrophic epidermolysis bullosa: evidence for increased collagenase as a genetic characteristic in cell culture. J Exp Med. 1978;148:1378–1387.

    Article  PubMed  CAS  Google Scholar 

  39. Valle K-J, Bauer EA. Enhanced biosynthesis of human skin collagenase in fibro-blast cultures from recessive dystrophic epidermolysis bullosa. J Clin Invest. 1980;66:176–187.

    Article  PubMed  CAS  Google Scholar 

  40. Stricklin GP, Welgus HG, Bauer EA. Human skin collagenase in recessive dystrophic epidermolysis bullosa: purification of a mutant enzyme from fibroblast cultures. J Clin Invest. 1982;69:1373–1383.

    Article  PubMed  CAS  Google Scholar 

  41. Bauer EA. Abnormalities in collagenase expression as in vitro markers for recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 1982; 79:105s-108s.

    Article  CAS  Google Scholar 

  42. Kero M. Epidermolysis bullosa in Finland: clinical features, morphology and relation to collagen metabolism. Acta Derm Venereol (Stockh). 1984; suppl 110: 1–51.

    CAS  Google Scholar 

  43. Kero M, Palotie A, Peltonen L. Collagen metabolism in two rare forms of epidermolysis bullosa. Br J Dermatol. 1984; 110:177–184.

    Article  PubMed  CAS  Google Scholar 

  44. Bauer EA, Cooper TW, Tucker DR, Esterly NB. Phenytoin therapy of recessive dystrophic epidermolysis bullosa. Clinical trial and proposed mechanism of action on collagenase. N Engl J Med. 1980; 303:776–781.

    Article  PubMed  CAS  Google Scholar 

  45. Lin AN, Stern RS, Caldwell-Brown D, Carter DM, and collaborators. Phenytoin for recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 1989; 92:472.

    Google Scholar 

  46. Sakai LY, Keene DR, Morris NP, Burgeson RE. Type VII collagen is a major structural component of anchoring fibrils. J Cell Biol. 1986; 103:1577–1586.

    Article  PubMed  CAS  Google Scholar 

  47. Sanchez G, Seltzer JL, Eisen AZ, Stapler P, Bauer EA. Generalized dominant epidemlolysis bullosa simplex. Decreased activity of a gelatinolytic protease in cultured fibroblasts as a phenotypic marker. J Invest Dermatol. 1983; 81:576–579.

    Article  PubMed  CAS  Google Scholar 

  48. Winberg J-O, Gedde-Dahl T Jr. Gelatinase expression in generalized epidermolysis bullosa simplex fibroblasts. J Invest Dermatol. 1986;87:326–329.

    Article  PubMed  CAS  Google Scholar 

  49. Takamori K, Naito K, Ogawa H. Epidermolysis bullosa simplex blister fluid induces an intra-epidermal blister in cultured normal skin. Br J Dermatol. 1983; 109:643–646.

    Article  PubMed  CAS  Google Scholar 

  50. Manabe M, Naito K, Ikeda S, Takamori K, Ogawa H. Production of blister in normal human skin in vitro by blister fluids from epidermolysis bullosa. J Invest Dermatol. 1984;82:283–286.

    Article  PubMed  CAS  Google Scholar 

  51. Matsumoto M, Hashimoto K. Blister fluid from epidermolysis bullosa letalis induces dermal-epidermal separation at lamina lucida. J Invest Dermatol. 1984; 82:392–393.

    Google Scholar 

  52. Matsumoto M, Hashimoto K, Ohkawara A. The role of lysosomal protease in junctional blister formation in epidermolysis bullosa letalis. J Invest Dermatol. 1985;84:354.

    Google Scholar 

  53. Takamori K, Ikeda S, Naito K, Ogawa H. Proteases are responsible for blister formation in recessive dystrophic epidermolysis bullosa and epidermolysis bullosa simplex. Br J Dermatol. 1985; 112:533.

    Article  PubMed  CAS  Google Scholar 

  54. Takamori K, Naito K, Taneda A, Ogawa H. Increased neutral protease and collagenase activity in recessive dystrophic epidermolysis bullosa. Br J Dermatol. 1983;108:687–694.

    Article  PubMed  CAS  Google Scholar 

  55. Fine JD, Stewart B, Austin R. Epidermolysis bullosa blister fluid and human skin organ culture: an unreliable in vitro model for the disease. J Invest Dermatol. 1986;37:139.

    Google Scholar 

  56. Fine JD. The skin basement membrane zone. In: Callen J, ed. Advances in Dermatology. Chicago: Year Book Publishers; 1986:283–303.

    Google Scholar 

  57. Fine JD. Antigenic features and structural correlates of basement membranes: relationship to epidermolysis bullosa. Arch Dermatol. 1988; 124:713–717.

    Article  PubMed  CAS  Google Scholar 

  58. Fine J-D. Structure and antigenicity of the skin basement membrane zone. J Cutan Pathol. 1991; 18:401–409.

    Article  PubMed  CAS  Google Scholar 

  59. Fine JD. Altered skin basement membrane antigenicity in epidermolysis bullosa. In: Wuepper KD, Gedde-Dahl T Jr, ed. Biology of Heritable Skin Diseases. Basel: Karger; 1987:111–126.

    Google Scholar 

  60. Eady RAJ, Tidman MJ, Heagerty AHM, Kennedy AR. Approaches to the study of epidermolysis bullosa. Curr Probl Dermatol. 1987; 17:127–141.

    PubMed  CAS  Google Scholar 

  61. Caughman SW, Krieg T, Timpl R, Hintner H, Katz SI. Nidogen and heparan sulfate proteoglycan: detection of newly isolated basement membrane components in normal and epidermolysis bullosa skin. J Invest Dermatol. 1987; 89: 547–550.

    Article  PubMed  CAS  Google Scholar 

  62. Fine JD, Gay S. LDA-1 monoclonal antibody: an excellent reagent for immunofluorescence mapping studies in patients with epidermolysis bullosa. Arch Dermatol. 1986;122:48–51.

    Article  PubMed  CAS  Google Scholar 

  63. Fine JD, Couchman JR. Chondroitin 6-sulfate proteoglycan but not heparan sulfate proteoglycan is abnormally expressed in skin basement membrane from patients with dominant and recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 1989;92:611–616.

    Article  PubMed  CAS  Google Scholar 

  64. Fine JD, Horiguchi Y, Madri JA. Ultrastructural localization of AB2 type V collagen in human skin basement membrane and its expression in epidermolysis bullosa. Clin Res. 1989;37:358A.

    Google Scholar 

  65. Breathnach SM, Fox PA, Neises GR, Stanley JR, Katz SI. A unique squamous epithelial basement membrane antigen defined by a monoclonal antibody (KF-1). J Invest Dermatol. 1983; 80:392–395.

    Article  PubMed  CAS  Google Scholar 

  66. Fine JD, Smith LT, Holbrook KA, Katz SI. The appearance of four basement membrane zone antigens in developing human fetal skin. J Invest Dermatol. 1984;83:66–69.

    Article  PubMed  CAS  Google Scholar 

  67. Bernard BA. Biochemical characterization of the epithelial membrane antigen defined by the monoclonal antibody KF-1. J Invest Dermatol. 1986;87:86–88.

    Article  PubMed  CAS  Google Scholar 

  68. Fine JD, Breathnach SM, Hintner H, Katz SI. KF-1 monoclonal antibody defines a specific basement membrane antigenic defect in dystrophic forms of epidermolysis bullosa. J Invest Dermatol. 1984; 82:35–38.

    Article  PubMed  CAS  Google Scholar 

  69. Goldsmith LA, Briggaman RA. Monoclonal antibodies to anchoring fibrils for the diagnosis of epidermolysis bullosa. J Invest Dermatol. 1983; 81:464–466.

    Article  PubMed  CAS  Google Scholar 

  70. Lane AT, Helm KF, Goldsmith LA. Identification of bullous pemphigoid, pemphigus, laminin, and anchoring fibril antigens in human fetal skin. J Invest Dermatol. 1985;84:27–30.

    Article  PubMed  CAS  Google Scholar 

  71. Leigh IM, Purkis PE. LH 7:2: a new monoclonal antibody to a lamina densa protein. J Invest Dermatol. 1985; 84:448.

    Google Scholar 

  72. Heagerty AHM, Kennedy AR, Leigh IM, Purkis P, Eady RAJ. Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis. Br J Dermatol. 1986;115:125–131.

    Article  PubMed  CAS  Google Scholar 

  73. Leigh IM, Purkis P, Bruckner-Tuderman L. LH 7:2 monoclonal antibody detects type VII collagen in the basement membrane of ectodermally derived epithelia including skin. Epithelia. 1987; 1:17–29.

    Google Scholar 

  74. Leigh IM, Eady RAJ, Heagerty AHM, Purkis P, Whitehead PA, Burgeson RA. Type VII collagen is a normal component of epidermal basement membrane which shows altered expression in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 1988; 90:639–642.

    Article  PubMed  CAS  Google Scholar 

  75. Fine JD, Johnson LB, Wright T. Type VII collagen and 19-DEJ-l antigen: comparison of expression in inversa and generalized variants of recessive dystrophic epidermolysis bullosa. Arch Dermatol 1990; 126:1587–1593.

    Article  PubMed  CAS  Google Scholar 

  76. Bruckner-Tuderman L, Ruegger S, Odermatt B, Mitsuhashi Y, Schnyder UW. Lack of type VII collagen is unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa. Dermatologica. 1988; 176:57–64.

    Article  PubMed  CAS  Google Scholar 

  77. Bruckner-Tuderman L, Mitsuhasshi Y, Schnyder UW, Bruckner P. Anchoring fibrils and type VII collagen are absent from skin in severe recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 1989; 93:3–9.

    Article  PubMed  CAS  Google Scholar 

  78. Bruckner-Tuderman L, Niemi KM, Kero M, Schnyder UW, Reunala T. Type-VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa. Br J Dermatol. 1990;122:383–390.

    Article  PubMed  CAS  Google Scholar 

  79. Rusenko KW, Gammon WR, Fine JD, Briggaman RA. The carboxyl-terminal domain of type VII collagen is present at the basement membrane in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 1989; 92:623–627.

    Article  PubMed  CAS  Google Scholar 

  80. Verrando P, Ortonne J-P, Pautrat G, Hsi B-L, Yeh C-J. Identification of a 37 kilodalton protein at the epidermal basement membrane by anti-serum to human amnion. J Invest Dermatol. 1986; 86:190–196.

    Article  Google Scholar 

  81. Verrando P, Hsi B-L, Yeh C-J, Pisano A, Serleys N, Ortonne J-P. Monoclonal antibody GB3, a new probe for the study of human basement membranes and hemidesmosomes. Exp Cell Res. 1987; 170:116–128.

    Article  PubMed  CAS  Google Scholar 

  82. Verrando P, Pisani A, Ortonne J-P. The new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size glycoprotein: modulation of its expression by retinoic acid. Biochim Biophys Acta. 1988;942:45–56.

    Article  PubMed  CAS  Google Scholar 

  83. Heagerty AHM, Kennedy AR, Gunner DB, Eady RAJ. Rapid prenatal diagnosis and exclusion of epidermolysis bullosa using novel antibody probes. J Invest Dermatol. 1986;86:603–605.

    Article  PubMed  CAS  Google Scholar 

  84. Kennedy AR, Heagerty AHM, Ortonne J-P, Hsi B-L, Yeh C-JG, Eady RAJ. Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa. Br J Dermatol. 1985;113:651–659.

    Article  PubMed  CAS  Google Scholar 

  85. Heagerty AHM, Kennedy AR, Eady RAJ, et al. GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa. Lancet. 1986; 1:860.

    Article  PubMed  CAS  Google Scholar 

  86. Fine JD. GB3 antigen is an accurate marker of only the Herlitz subset of junctional epidermolysis bullosa. Clin Res. 1990; 38:72A.

    Google Scholar 

  87. Schofield OMV, Fine JD, Pisani A, Heagerty AHM, Ortonne JP, Eady RAJ. GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicentre study. J Am Acad Dermatol. 1990; 23:1078–1083.

    Article  PubMed  CAS  Google Scholar 

  88. Horiguchi Y, Couchman JR, Ljubimov AV, Vasiliev JM, Yamasaki H, Fine JD. Organ specificity, ontogeny, and ultrastructural localization of the core protein of heparan sulfate proteoglycan, a new component of human skin basement membrane zone. J Histochem Cytochem. 1989;37:961–970.

    Article  PubMed  CAS  Google Scholar 

  89. Fine JD, Couchman JR. Chondroitin-6-sulfate-containing proteoglycan: a new component of human skin dermoepidermal junction. J Invest Dermatol. 1988; 90:283–288.

    Article  PubMed  CAS  Google Scholar 

  90. Fine JD, Horiguchi Y, Jester J, Couchman J. Detection and partial characterization of a mid-lamina lucida—hemidesmosome—associated antigen (19-DEJ-1) present within human skin. J Invest Dermatol. 1989;92:825–830.

    Article  PubMed  CAS  Google Scholar 

  91. Holbrook KA, Smith LT. Ultrastructural aspects of human skin during embryonic, fetal, neonatal and adult periods of life. In: Blandau RJ, ed. Morphogenesis and Malformations of the Skin. New York: Alan R Liss; 1981:9–38.

    Google Scholar 

  92. Fine JD, Horiguchi Y, Couchman JR. 19-DEJ-1, a hemidesmosome-anchoring filament complex-associated monoclonal antibody. Definition of a new skin basement membrane antigenic defect in junctional and dystrophic epidermolysis bullosa. Arch Dermatol. 1989; 125:520–523.

    Article  PubMed  CAS  Google Scholar 

  93. Fine JD. 19-DEJ-1, a monoclonal antibody to the hemidesmosome-anchoring filament complex, is the only reliable immunohistochemical probe for all major forms of junctional epidermolysis bullosa. Arch Dermatol. 1990; 126:1187–1190.

    Article  PubMed  CAS  Google Scholar 

  94. Fine JD. Epidermolysis bullosa: variability of expression of cicatricial pemphigoid, bullous pemphigoid, and epidermolysis bullosa acquisita antigens. J Invest Dermatol. 1985;85:47–49.

    Article  PubMed  CAS  Google Scholar 

  95. Heagerty AHM, Eady RAJ, Kennedy AR, et al. Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody. Br J Dermatol. 1987;17:271–275.

    Article  Google Scholar 

  96. Fine JD, Eady RAJ, Levy ML, et al. Prenatal diagnosis of dominant and recessive dystrophic epidermolysis bullosa: application and limitations in the use of KF-1 and LH 7:2 monoclonal antibodies and immunofluorescence mapping. J Invest Dermatol. 1988;91:465–471.

    Article  PubMed  CAS  Google Scholar 

  97. Fine JD, Holbrook KA, Elias S, Anton-Lamprecht I, Rauskolb R. Applicability of 19-DEJ-l monoclonal antibody for the prenatal diagnosis or exclusion of junctional epidermolysis bullosa. Prenatal Diagn. 1990; 10:219–229.

    Article  CAS  Google Scholar 

  98. Erhlich HP, Buttle D, Trelstad R, Hayashi K. Epidermolysis bullosa dystrophica recessive fibroblasts altered behavior within a collagen matrix. J Invest Dermatol. 1983;80:56–60.

    Article  Google Scholar 

  99. Erhlich HP, White M. Effects of increased concentrations of prostaglandin E levels with epidermolysis bullosa dystrophica recessive fibroblasts within a populated collagen lattice. J Invest Dermatol. 1983; 81:572–575.

    Article  Google Scholar 

  100. Erhlich HP, Griswold TR. Epidermolysis bullosa dystrophica recessive fibroblasts produce increased concentrations of cAMP within collagen matrix. J Invest Dermatol. 1984;83:230–233.

    Article  Google Scholar 

  101. Eisen AZ, Pentland AP, Bauer EA, Goldberg GL The behavior of epidermolysis bullosa fibroblasts in a hydrated collagen lattice. J Invest Dermatol. 1986; 87:138.

    Google Scholar 

  102. Fine JD, Griffith RD. A specific defect in glycosylation of epidermal cell membranes. Definition in skin from patients with epidermolysis bullosa simplex. Arch Dermatol. 1985; 121:1292–1296.

    Article  PubMed  CAS  Google Scholar 

  103. Briggaman RA, Wheeler CE Jr. Epidermolysis bullosa dystrophica-recessive: a possible role of anchoring fibrils in the pathogenesis. J Invest Dermatol. 1975; 65:203–211.

    Article  PubMed  CAS  Google Scholar 

  104. Tidman MJ, Eady RA, Leigh IM, MacDonald DM. Keratin expression in epidermolysis bullosa simplex (Dowling-Meara). Acta Derm Venereol. 1988; 68:15–20.

    PubMed  CAS  Google Scholar 

  105. Kitajima Y, Inoue S, Yaoita H. Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. Arch Dermatol Res. 1989;281:5–10.

    Article  PubMed  CAS  Google Scholar 

  106. Vassar R, Coulombe PA, Degenstein L, Albers K, Fuchs E. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell. 1991; 64:365–380.

    Article  PubMed  CAS  Google Scholar 

  107. Bonifas JM, Rothman AL, Epstein “E. Linkage of epidermolysis bullosa simplex to probes in the region of keratin gene clusters on chromosomes 12q and 17q. J Invest Dermatol. 1991; 39(2): 503A.

    Google Scholar 

  108. Endo M, Yamamoto R, Yosizawa Z, Sasai Y, Saito N. Urinary chondroitin of epidermolysis bullosa dystrophica et albo-papuloidea (Pasini). Clin Chim Acta. 1974;57:249–253.

    Article  PubMed  CAS  Google Scholar 

  109. Bauer EA, Fiehler WK, Esterly NB. Increased glycosaminoglycan accumulation as a gene ic characteristic in cell cultures of one variety of dominant dystrophic epidennolysis bullosa. J Clin Invest. 1979;64:32–39.

    Article  PubMed  CAS  Google Scholar 

  110. Priestley GC. Glycosaminoglycans production by cultured skin fibroblasts from the Pasini and Cockayne-Touraine forms of dominant dystrophic epidermolysis bullosa. J Invest Dermatol. 1991; 96:168–171.

    Article  PubMed  CAS  Google Scholar 

  111. Savolainen E-R, Kero M, Pihlajaniemi T, Kivirikko KI. Deficiency of galactosylhydroxylysyl glucosyltransferase, an enzyme of collagen synthesis, in a family with dominant epidermolysis bullosa simplex. N Engl J Med. 1981; 304:197–204.

    Article  PubMed  CAS  Google Scholar 

  112. Gay S, Ward WQ, Gay R, Miller EJ. Autoantibodies to basement membrane collagen: epidermolysis bullosa simplex versus bullous pemphigoid. J Cutan Pathol. 1980;7:315–317.

    Article  PubMed  CAS  Google Scholar 

  113. Gay S, Fine JD, Storer JS. Autoantibodies to extracellular collagen matrix components in epidermolysis bullosa and other bullous diseases. Arch Dermatol. Res 1988;280:333–337.

    Article  PubMed  CAS  Google Scholar 

  114. Yacoub T, Campbell CA, Gordon YB, Kirby JD, Kitau MJ. Maternal serum and amniotic fluid concentrations of alphafetoprotein in epidermolysis bullosa simplex. Br Med J. 1979; 1:307.

    Article  PubMed  CAS  Google Scholar 

  115. Bick DP, Balkite EA, Baumgarten A, Hobbins JC, Mahoney MJ. The association of congenital skin disorders with acetylcholinesterase in amniotic fluid. Prenatal Diagn. 1987;7:543–549.

    Article  CAS  Google Scholar 

  116. Shulman LP, Elias S, Andersen RN, et al. Alpha-fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant. Prenatal Diagn. 1991; 11:813–818.

    Article  CAS  Google Scholar 

  117. Briggaman RA, Meador P, Wheeler CE Jr. Suction blister studies in epidermolysis bullosa. J Invest Dermatol. 1977; 68:231.

    Google Scholar 

  118. Tidman MJ, Eady RAJ. Evidence for a functional defect of the lamina lucida in recessive dystrophic epidermolysis bullosa demonstrated by suction blisters. Br J Dermatol. 1984;111:379–387.

    Article  PubMed  CAS  Google Scholar 

  119. Leigh [M, Tidman MJ. Eady RAJ. Epidermolysis bullosa preliminary observations of blister formation in keratinocyte cultures. Br J Dermatol. 1984; 111: 527–532.

    Article  PubMed  CAS  Google Scholar 

  120. Chapman SJ, Leigh IM, Tidman MJ, Eady RAJ. Abnormal expression of hemidesmosome-like structures by junctional epidermolysis bullosa keratinocytes in vitro. Br J Dermatol. 1990; 123:137–144.

    Article  PubMed  CAS  Google Scholar 

  121. Cunnane SC, Kent ET, McAdoo KR, Caldwell D, Lin AN, Carter DM. Abnormalities of plasma and erythrocyte essential fatty acid composition in epidermolysis bullosa: influence of treatment with diphenylhydantoin. J Invest Dermatol. 1987;89:395–399.

    Article  PubMed  CAS  Google Scholar 

  122. Fine JD, Tamura T, Johnson L. Blood vitamin and trace metal levels in epidermolysis bullosa. Arch Dermatol. 1989; 125:374–379.

    Article  PubMed  CAS  Google Scholar 

  123. Alley MR, O’Hara PJ, Middelberg A. An epidermolysis bullosa of sheep. N Z Vet J. 1974;22:55–59.

    Article  PubMed  CAS  Google Scholar 

  124. Bassett E. Bovine epidermolysis: an inherited skin disease in cattle. Dublin: 1986:75–80. In: Proceedings of the 14th World Congress on disease of cattle, Dublin, Ireland. 1986, 75–80.

    Google Scholar 

  125. Dunstan RW, Sills RC, Wilkinson JE, Palier AS, Hashimoto KH. A disease resembling junctional epidermolysis bullosa in a toy poodle. Am J Dermatopathol. 1988;10:442–447.

    PubMed  CAS  Google Scholar 

  126. Thompson KG, Crandell RA, Rugeley WW, Sutherland RJ. A mechanobullous disease with sub-basilar separation in Brangus calves. Vet Pathol. 1985; 22:283–285.

    PubMed  CAS  Google Scholar 

  127. Bruckner-Tuderman L, Guscetti F, Ehrensperger F. Animal model for dermolytic mechanobullous disease: sheep with recessive dystrophic epidermolysis bullosa lack collagen VII. J Invest Dermatol. 1991; 96:452–458.

    Article  PubMed  CAS  Google Scholar 

  128. Byers PH, Wenstrup RJ, Bonadio JF, et al. Molecular basis of inherited disorders of collagen biosynthesis: implications for prenatal diagnosis. Curr Probl Dermatol. 1987;16:158–174.

    PubMed  CAS  Google Scholar 

  129. Fine JD. Cicatricial pemphigoid, bullous pemphigoid, and epidermolysis bullosa acquisita antigens: differences in organ and species specificities and localization in chemically-separated human skin of three basement membrane antigens. Coll Rel Res. 1985;5:369–377.

    CAS  Google Scholar 

  130. Rogers RB, Yancey KB, Allen BS, Guill MF. Phenytoin therapy for junctional epidermolysis bullosa. Arch Dermatol. 1983; 119:925–926.

    Article  PubMed  CAS  Google Scholar 

  131. Fine JD, Johnson L. Efficacy of systemic phenytoin in the treatment of junctional epidennolysis bullosa. Arch Dermatol. 1988; 124:1402–1406.

    Article  PubMed  CAS  Google Scholar 

  132. Woodley DT, Scheidt VJ, Reese MJ, et al. Localization of the alpha 3 (V) chain of type V collagen in human skin. J Invest Dermatol. 1987; 88:246–252.

    Article  PubMed  CAS  Google Scholar 

  133. Fine JD, Horiguchi Y, Stein DH, Esterly NB, Leigh IM. Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa. J Am Acad Dermatol. 1990; 22:188–195.

    Article  PubMed  CAS  Google Scholar 

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  1. Jo-David Fine
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  1. Laboratory for Investigative Dermatology, The Rockefeller University, 1230 York Avenue, New York, NY, 10021-6399, USA

    Andrew N. Lin M.D.  & D. Martin Carter M.D., Ph.D.  & 

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© 1992 Springer-Verlag New York, Inc.

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Fine, JD. (1992). Pathology and Pathogenesis of Epidermolysis Bullosa. In: Lin, A.N., Carter, D.M. (eds) Epidermolysis Bullosa. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-2914-8_3

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  • DOI: https://doi.org/10.1007/978-1-4612-2914-8_3

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