The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa

Journal of Dermatological Science

Volumn 14, Issue 1, 1997, Pages 68-75

  McGrath, John A ^a   Eady, Robin A J ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

180 kDa bullous pemphigoid antigen; Laminin 5; Non lethal junctional epidermolysis bullosa

Indexed keywords

LAMININ;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; EPIDERMOLYSIS BULLOSA; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AUTOANTIGENS; CARRIER PROTEINS; COLLAGEN; CYTOSKELETAL PROTEINS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; LAMININ; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; NERVE TISSUE PROTEINS; NON-FIBRILLAR COLLAGENS; PEMPHIGOID, BULLOUS;

EID: 0031044043     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0923-1811(96)00554-3     Document Type: Article

References (32)

1. [1] Eady RAJ: Classification of epidermolysis bullosa, in Epidermolysis Bullosa. A Comprehensive Review of Classification, Management and Laboratory Studies. Edited by GC Priestley, MJ Tidman. JB Weiss, RAJ Eady. Dystrophic Epidermolysis Bullosa Research Association (D.E.B.R.A.), Crowthorne, Berkshire, UK, 1990, pp. 1 9.
2. [2] 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 24: 119-135, 1991.
3. [3] Hashimoto I, Gedde-Dahl T, Schnyder UW, Anton-Lamprecht I: Ultrastructural studies in epidermolysis bullosa hereditana. IV. Recessive dystrophic subtypes with junctional blistering. Arch Derm Res 257: 17-32, 1976.
4. [4] Tidman MJ, Eady RAJ: Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol 86: 51-56, 1986.
5. [5] Eady RAJ: The basement membrane. Interface between the epithelium and the dermis: structural features. Arch Dermatol 124: 709-712, 1988.
6. [6] Fine J-D: Antigenic features and structural correlates of basement membranes. Relationship to epidermolysis bullosa. Arch Dermatol 124: 713-717. 1988.
7. [7] Eady RAJ, McGrath JA, McMillan JR: Ultrastructural clues to the diagnosis of genetic skin disease: the dermal-epidermal junction. J Invest Dermatol 103: 13S-18S, 1994.
8. [8] Fine J-D: Structure and antigenicity of the skin basement membrane zone. J Cutan Pathol 18: 401-409, 1991.
9. [9] 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 113, 651-659, 1985.
10. [10] Schofield OMV, Fine J-D, Verrando P, Heagerty AHM, Ortonne J-P, Eady RAJ: GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study. J Am Acad Dermatol 23: 1078-1083, 1990.
11. [11] Fine J-D, Horiguchi Y, Jester J, Couchman JR: Detection and partial characterization of a mid-lamina lucida hemidesmosome-associated antigen (19-DEJ-1) present within human skin. J Invest Dermatol 92: 825-830, 1989.
12. [12] Jonkman MF, De Jong MCJM, Heeres K et al.: 180-kDa bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest 95: 1345-1352, 1995.
13. [13] Jonkman MF, De Jong MCJM, Heeres K et al.: Generalized atrophic epidermolysis bullosa. Either 180-kDa bullous pemphigoid antigen or laminin-5 deficiency. Arch Dermatol 132: 145-150, 1996.
14. [14] Jonkman MF, De Jong MCJM, Heeres K, Sonnenberg A: Expression of integrin χ6β4 in junctional epidermolysis bullosa. J Invest Dermatol 99: 1-8. 1992.
15. [15] Hashimoto I, Schnyder UW, Anton-Lamprecht I: Epidermolysis bullosa hereditaria with junctional blistering in an adult. Dermatologica 152: 72-86, 1976.
16. [16] Schnyder UW, Anton-Lamprecht I: Zur Klinik der Epidermolysen mit Junktionaler Blasenbildung. Dermatologica 159: 402-406, 1979.
17. [17] Hintner H, Wolff K: Generalized atrophic benign epidermolysis bullosa. Arch Dermatol 118: 375-382, 1982.
18. [18] Schofield OMV, Eady RAJ: Generalized atrophic benign epidermolysis bullosa, in Epidermolysis Bullosa. A Comprehensive Review of Classification, Management and Laboratory Studies. Edited by GC Priestley, MJ Tidman, JB Weiss, RAJ Eady. Dystrophic Epidermolysis Bullosa Research Association (D.E.B.R.A.), Crowthorne, Berkshire, UK, 1990, pp. 97-102.
19. [19] McGrath JA, Gatalica B, Christiano AM et al.: Mutations in the 180-kDa bullous pemphigoid antigen (BPAG2), a transmembrane hemidesmosomal collagen (COL17AI), in generalized atrophic benign epidermolysis bullosa. Nature Genet 11: 83-86, 1995.
20. [20] McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RAJ, Uitto J: Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 104: 467-474, 1995.
21. [21] Eady RAJ. Transmission electron microscopy, in Methods in Skin Research. Edited by D Skerrow and CJ Skerrow. Wiley, Chichester, 1985, pp. 1-35.
22. [22] Verrando P, Blanchet-Bardon C, Pisani A et al.: Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab Invest 64: 85-92, 1991.
23. [23] Verrando P, Schofield OMV, Ishida-Yamamoto A et al.: Nicein (BM600) in junctional epidermoiysis bullosa: polyclonal antibodies provide new clues for a pathogenic role. J Invest Dermatol 101: 738-743, 1993.
24. [24] Heagerty AHM, Kennedy AR, Eady RAJ et al.: GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa. Lancet ii: 860, 1986.
25. [25] Nishizawa Y, Uematsu J, Owaribe K: HD4, a 180-kD bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome. J Biochem (Tokyo) 113: 493-501, 1993.
26. [26] Uitto J, Christiano AM: Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J Clin Invest 90: 687-692, 1992.
27. [27] Uitto J, Pulkkinen L, Christiano AM: Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. J Invest Dermatol 103: 39S-46S, 1994.
28. [28] Aberdam D. Galliano M-F, Vailly J et al.: Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (laminin-5). Nature Genet 6: 299-304, 1994.
29. [29] Pulkkinen L, Christiano AM, Gerecke DR, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J: A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24: 357-360, 1994.
30. [30] Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J: Mutations in the γ2 chain gene (LAMC2) of kalinin laminin-5 in the junctional forms of epidermolysis bullosa. Nature Genet 6: 293-298, 1994.
31. [31] Kivirikko S, McGrath JA, Baudoin C et al.: A homozygous nonsense mutation in the χ3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet 4: 959-962, 1995.
32. [32] Vidal F, Aberdam D. Christiano AM, Uitto J, Ortonne J-P, Meneguzzi G: Mutations in the gene for the integrin β4 subunit are associated with junctional epidermolysis bullosa with pyloric atresia. Nature Genet 10: 229-234, 1995.