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Type VII Collagen and 19-DEJ-1 Antigen: Comparison of Expression in Inversa and Generalized Variants of Recessive Dystrophic Epidermolysis Bullosa

Type VII Collagen and 19-DEJ-1 Antigen: Comparison of Expression in Inversa and Generalized... Abstract • The expression of type VII collagen and 19-DEJ-1 antigen was examined in 73 and 71 patients, respectively, with recessive dystrophic epidermolysis bullosa (RDEB), comprising gravis, mitis, inversa, and indeterminant subsets, to better determine the specificity and sensitivity of two monoclonal antibodies directed against these dermoepidermal junctionspecific epitopes. Type VII collagen (LH 7:2 epitope) was usually absent (in 90%) in patients with the gravis variant of RDEB, whereas its expression was most often diminished (in 67%) in those with the mitis form of the disease. Only 2% and 5% of patients with gravis and mitis variants, respectively, had apparent normal amounts of type VII collagen within their skin. In contrast, six (86%) of seven patients with the inversa variant had normal expression of the antigen. Only 25% of all patients with RDEB lacked the 19-DEJ-1 antigen; of these, however, most had the gravis variant, although absence or diminution was also infrequently observed in those with the mitis and inversa forms. Intermediate findings were noted in patients classified as having indeterminant forms of RDEB. Some variability in antigen expression was also noted among affected siblings. We conclude that assessment of expression of the LH 7:2 epitope of type VII collagen may be diagnostically useful, although considerable overlap does exist between individual patients with gravis and mitis forms. 19-DEJ-1 expression is a far less sensitive probe in RDEB, although such data may prove useful in the assessment of newborns lacking the characteristic features of gravis disease. In addition, based on our experience with inversa RDEB, it would appear that altered expression of type VII collagen cannot be attributed to blister formation in this latter rare subset, since this antigen is usually strongly detected along the dermoepidermal junction, even in perilesional skin sites. (Arch Dermatol. 1990;126:1587-1593) References 1. Cooper TW, Bauer EA, Briggaman RA. The mechanobullous diseases (epidermolysis bullosa) . In: Fitzpatrick TB, Eisen AZ, Wolff K, eds. Dermatology in General Medicine . New York, NY: McGraw-Hill International Book Co; 1987:610-626. 2. Fine JD. Epidermolysis bullosa: clinical aspects, pathology, and recent advances in research . Int J Dermatol. 1986;25:143-157.Crossref 3. Gedde-Dahl T Jr. Sixteen types of epidermolysis: on the clinical discrimination, therapy, and prenatal diagnosis . Acta Derm Venereol (Stockh). 1981;( (suppl 95) ):74-87. 4. Pearson RW. Clinicopathologic types of epidermolysis bullosa and their nondermatological complications . Arch Dermatol. 1988;124:718-725.Crossref 5. Tabas M, Gibbons S, Bauer EA. The mechanobullous diseases . Dermatol Clin. 1987;5:123-136.Crossref 6. Briggaman RA, Bauer EA. Epidermolysis bullosa dystrophica . In: Wojnarowska F, Briggaman RA, eds. Management of Blistering Diseases . New York, NY: Chapman & Hall; 1990:225-238. 7. Pearson RW. Histopathologic and ultrastructural findings in certain genodermatoses . Clin Dermatol. 1985;3:143-174.Crossref 8. 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. In press. 9. Pearson RW, Paller AS. Dermolytic (dystrophic) epidermolysis bullosa inversa . Arch Dermatol. 1988;124:544-547.Crossref 10. Eady RAJ, Tidman MJ, Heagerty AHM, Kennedy AR. Approaches to the study of epidermolysis bullosa . Curr Probl Dermatol. 1987;17:127-141. 11. Fine JD. Altered skin basement membrane antigenicity in epidermolysis bullosa . In: Wuepper KD, Gedde-Dahl T Jr, eds. Biology of Heritable Skin Diseases . New York, NY: S Karger AG; 1987:111-126. 12. 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.Crossref 13. 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.Crossref 14. Leigh IM, Purkis PE. LH 7:2: a new monoclonal antibody to a lamina densa protein . J Invest Dermatol. 1985;84:448. 15. Leigh IM, Purkis P, Bruckner-Tuderman L. LH 7:2 monoclonal antibody detects type VII collagen in the basement membrane of eetodermally derived epithelia including skin . Epithelia. 1987; 1:17-29. 16. 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.Crossref 17. Fine JD, 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. 1989;92:825-830.Crossref 18. 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.Crossref 19. 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.Crossref 20. Hintner H, Stingl G, Schuler G, et al. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in mechanobullous diseases . J Invest Dermatol. 1981;76:113-118.Crossref 21. 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.Crossref 22. 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.Crossref 23. Goldsmith LA, Briggaman RA. Monoclonal antibodies to anchoring fibrils for the diagnosis of epidermolysis bullosa . J Invest Dermatol. 1983;81:464-466.Crossref 24. Smith LT, Sybert VP. Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa . J Invest Dermatol. 1990;94:261-264.Crossref 25. 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.Crossref 26. 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.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Type VII Collagen and 19-DEJ-1 Antigen: Comparison of Expression in Inversa and Generalized Variants of Recessive Dystrophic Epidermolysis Bullosa

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References (29)

Publisher
American Medical Association
Copyright
Copyright © 1990 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.1990.01670360051007
Publisher site
See Article on Publisher Site

Abstract

Abstract • The expression of type VII collagen and 19-DEJ-1 antigen was examined in 73 and 71 patients, respectively, with recessive dystrophic epidermolysis bullosa (RDEB), comprising gravis, mitis, inversa, and indeterminant subsets, to better determine the specificity and sensitivity of two monoclonal antibodies directed against these dermoepidermal junctionspecific epitopes. Type VII collagen (LH 7:2 epitope) was usually absent (in 90%) in patients with the gravis variant of RDEB, whereas its expression was most often diminished (in 67%) in those with the mitis form of the disease. Only 2% and 5% of patients with gravis and mitis variants, respectively, had apparent normal amounts of type VII collagen within their skin. In contrast, six (86%) of seven patients with the inversa variant had normal expression of the antigen. Only 25% of all patients with RDEB lacked the 19-DEJ-1 antigen; of these, however, most had the gravis variant, although absence or diminution was also infrequently observed in those with the mitis and inversa forms. Intermediate findings were noted in patients classified as having indeterminant forms of RDEB. Some variability in antigen expression was also noted among affected siblings. We conclude that assessment of expression of the LH 7:2 epitope of type VII collagen may be diagnostically useful, although considerable overlap does exist between individual patients with gravis and mitis forms. 19-DEJ-1 expression is a far less sensitive probe in RDEB, although such data may prove useful in the assessment of newborns lacking the characteristic features of gravis disease. In addition, based on our experience with inversa RDEB, it would appear that altered expression of type VII collagen cannot be attributed to blister formation in this latter rare subset, since this antigen is usually strongly detected along the dermoepidermal junction, even in perilesional skin sites. (Arch Dermatol. 1990;126:1587-1593) References 1. Cooper TW, Bauer EA, Briggaman RA. The mechanobullous diseases (epidermolysis bullosa) . In: Fitzpatrick TB, Eisen AZ, Wolff K, eds. Dermatology in General Medicine . New York, NY: McGraw-Hill International Book Co; 1987:610-626. 2. Fine JD. Epidermolysis bullosa: clinical aspects, pathology, and recent advances in research . Int J Dermatol. 1986;25:143-157.Crossref 3. Gedde-Dahl T Jr. Sixteen types of epidermolysis: on the clinical discrimination, therapy, and prenatal diagnosis . Acta Derm Venereol (Stockh). 1981;( (suppl 95) ):74-87. 4. Pearson RW. Clinicopathologic types of epidermolysis bullosa and their nondermatological complications . Arch Dermatol. 1988;124:718-725.Crossref 5. Tabas M, Gibbons S, Bauer EA. The mechanobullous diseases . Dermatol Clin. 1987;5:123-136.Crossref 6. Briggaman RA, Bauer EA. Epidermolysis bullosa dystrophica . In: Wojnarowska F, Briggaman RA, eds. Management of Blistering Diseases . New York, NY: Chapman & Hall; 1990:225-238. 7. Pearson RW. Histopathologic and ultrastructural findings in certain genodermatoses . Clin Dermatol. 1985;3:143-174.Crossref 8. 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. In press. 9. Pearson RW, Paller AS. Dermolytic (dystrophic) epidermolysis bullosa inversa . Arch Dermatol. 1988;124:544-547.Crossref 10. Eady RAJ, Tidman MJ, Heagerty AHM, Kennedy AR. Approaches to the study of epidermolysis bullosa . Curr Probl Dermatol. 1987;17:127-141. 11. Fine JD. Altered skin basement membrane antigenicity in epidermolysis bullosa . In: Wuepper KD, Gedde-Dahl T Jr, eds. Biology of Heritable Skin Diseases . New York, NY: S Karger AG; 1987:111-126. 12. 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.Crossref 13. 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.Crossref 14. Leigh IM, Purkis PE. LH 7:2: a new monoclonal antibody to a lamina densa protein . J Invest Dermatol. 1985;84:448. 15. Leigh IM, Purkis P, Bruckner-Tuderman L. LH 7:2 monoclonal antibody detects type VII collagen in the basement membrane of eetodermally derived epithelia including skin . Epithelia. 1987; 1:17-29. 16. 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.Crossref 17. Fine JD, 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. 1989;92:825-830.Crossref 18. 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.Crossref 19. 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.Crossref 20. Hintner H, Stingl G, Schuler G, et al. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in mechanobullous diseases . J Invest Dermatol. 1981;76:113-118.Crossref 21. 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.Crossref 22. 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.Crossref 23. Goldsmith LA, Briggaman RA. Monoclonal antibodies to anchoring fibrils for the diagnosis of epidermolysis bullosa . J Invest Dermatol. 1983;81:464-466.Crossref 24. Smith LT, Sybert VP. Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa . J Invest Dermatol. 1990;94:261-264.Crossref 25. 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.Crossref 26. 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.Crossref

Journal

Archives of DermatologyAmerican Medical Association

Published: Dec 1, 1990

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