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Comparison of Expression in Inversa and Generalized Variants of Recessive Dystrophic Epidermolysis Bullosa

Jo-David Fine, MD; Lorraine B. Johnson, ScD; Timothy Wright, DDS, MS

Arch Dermatol. 1990;126(12):1587-1593.

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)

Author Affiliations
From the Department of Dermatology, University of North Carolina at Chapel Hill, School of Medicine (Drs Fine and Johnson); the Department of Pediatric Dentistry, University of Alabama at Birmingham, School of Dentistry (Dr Wright); and the National Epidermolysis Bullosa Registry, Southern Clinical Center, Chapel Hill, NC (Drs Fine and Johnson). Dr Wright is now with the Department of Pediatric Dentistry, University of North Carolina at Chapel Hill, School of Dentistry.

Footnotes
Accepted for publication June 13,1990.

Reprint requests to Department of Dermatology, University of North Carolina at Chapel Hill, Room 137, North Carolina Hospital, Chapel Hill, NC 27514 (Dr Fine).

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