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 technique

Jo David Fine, Robin A J Eady, Moise L. Levy, J. Fielding Hejtmancik, Kristine B. Courtney, Robert J. Carpenter, Karen A. Holbrook, Hal K. Hawkins

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Prenatal diagnosis is now possible for junctional and recessive dystrophic forms of epidermolysis bullosa (EB); however, there is no similar published experience for dominant dystrophic EB, although data with KF-1 monoclonal antibody suggests that both forms of dystrophic EB can be identified at least postnatally with this unique probe. We now report our experience with light microscopy, electron microscopy, immunofluorescence mapping, and KF-1 and LH 7:2 monoclonal antibodies, in both a mother with dominant dystrophic EB and her fetus at risk, and in a fetus previously shown to be affected with recessive dystrophic EB. KF-1 and LH 7:2 antigens were absent in recessive dystrophic EB fetal skin, identical to findings observed postnatally. LH 7:2 was normally expressed in a mother with dominant dystrophic EB and in her fetus at risk for this disease. In contrast, while KF-1 antigen was abnormally expressed in the affected mother, it was normally expressed in only 1 7 fetal biopsies despite the fact that this fetus was shown by light and electron microscopy and immunofluorescence mapping to be unaffected with dominant dystrophic EB. We conclude that 1) transmission electron microscopy can be used to prenatally exclude the diagnosis of dominant dystrophic EB (Cockayne-Touraine variety), 2) immunofluorescence mapping is an accurate technique for prenatal as well as postnatal diagnosis of EB, and 3) KF-1 cannot by itself be used as an accurate probe for the prenatal diagnosis of dominant dystrophic EB, due to the apparent variability in the time for the normal expression of KF-1 in fetal skin during the second trimester.

Original languageEnglish (US)
Pages (from-to)465-471
Number of pages7
JournalJournal of Investigative Dermatology
Volume91
Issue number5
StatePublished - Nov 1988
Externally publishedYes

Fingerprint

Epidermolysis Bullosa Dystrophica
Prenatal Diagnosis
Fluorescent Antibody Technique
Monoclonal Antibodies
Electron microscopy
Optical microscopy
Skin
Antigens
Fetus
Biopsy
Transmission electron microscopy
Electron Microscopy
LH 1
Epidermolysis Bullosa
Light
Second Pregnancy Trimester
Transmission Electron Microscopy
Microscopy

ASJC Scopus subject areas

  • Dermatology

Cite this

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 technique. / Fine, Jo David; Eady, Robin A J; Levy, Moise L.; Hejtmancik, J. Fielding; Courtney, Kristine B.; Carpenter, Robert J.; Holbrook, Karen A.; Hawkins, Hal K.

In: Journal of Investigative Dermatology, Vol. 91, No. 5, 11.1988, p. 465-471.

Research output: Contribution to journalArticle

Fine, Jo David ; Eady, Robin A J ; Levy, Moise L. ; Hejtmancik, J. Fielding ; Courtney, Kristine B. ; Carpenter, Robert J. ; Holbrook, Karen A. ; Hawkins, Hal K. / 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 technique. In: Journal of Investigative Dermatology. 1988 ; Vol. 91, No. 5. pp. 465-471.
@article{005367d17d814292aea8baf634757bbf,
title = "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 technique",
abstract = "Prenatal diagnosis is now possible for junctional and recessive dystrophic forms of epidermolysis bullosa (EB); however, there is no similar published experience for dominant dystrophic EB, although data with KF-1 monoclonal antibody suggests that both forms of dystrophic EB can be identified at least postnatally with this unique probe. We now report our experience with light microscopy, electron microscopy, immunofluorescence mapping, and KF-1 and LH 7:2 monoclonal antibodies, in both a mother with dominant dystrophic EB and her fetus at risk, and in a fetus previously shown to be affected with recessive dystrophic EB. KF-1 and LH 7:2 antigens were absent in recessive dystrophic EB fetal skin, identical to findings observed postnatally. LH 7:2 was normally expressed in a mother with dominant dystrophic EB and in her fetus at risk for this disease. In contrast, while KF-1 antigen was abnormally expressed in the affected mother, it was normally expressed in only 1 7 fetal biopsies despite the fact that this fetus was shown by light and electron microscopy and immunofluorescence mapping to be unaffected with dominant dystrophic EB. We conclude that 1) transmission electron microscopy can be used to prenatally exclude the diagnosis of dominant dystrophic EB (Cockayne-Touraine variety), 2) immunofluorescence mapping is an accurate technique for prenatal as well as postnatal diagnosis of EB, and 3) KF-1 cannot by itself be used as an accurate probe for the prenatal diagnosis of dominant dystrophic EB, due to the apparent variability in the time for the normal expression of KF-1 in fetal skin during the second trimester.",
author = "Fine, {Jo David} and Eady, {Robin A J} and Levy, {Moise L.} and Hejtmancik, {J. Fielding} and Courtney, {Kristine B.} and Carpenter, {Robert J.} and Holbrook, {Karen A.} and Hawkins, {Hal K.}",
year = "1988",
month = "11",
language = "English (US)",
volume = "91",
pages = "465--471",
journal = "Journal of Investigative Dermatology",
issn = "0022-202X",
publisher = "Nature Publishing Group",
number = "5",

}

TY - JOUR

T1 - Prenatal diagnosis of dominant and recessive dystrophic epidermolysis bullosa

T2 - Application and limitations in the use of kf-1 and LH 7:2 monoclonal antibodies and immunofluorescence mapping technique

AU - Fine, Jo David

AU - Eady, Robin A J

AU - Levy, Moise L.

AU - Hejtmancik, J. Fielding

AU - Courtney, Kristine B.

AU - Carpenter, Robert J.

AU - Holbrook, Karen A.

AU - Hawkins, Hal K.

PY - 1988/11

Y1 - 1988/11

N2 - Prenatal diagnosis is now possible for junctional and recessive dystrophic forms of epidermolysis bullosa (EB); however, there is no similar published experience for dominant dystrophic EB, although data with KF-1 monoclonal antibody suggests that both forms of dystrophic EB can be identified at least postnatally with this unique probe. We now report our experience with light microscopy, electron microscopy, immunofluorescence mapping, and KF-1 and LH 7:2 monoclonal antibodies, in both a mother with dominant dystrophic EB and her fetus at risk, and in a fetus previously shown to be affected with recessive dystrophic EB. KF-1 and LH 7:2 antigens were absent in recessive dystrophic EB fetal skin, identical to findings observed postnatally. LH 7:2 was normally expressed in a mother with dominant dystrophic EB and in her fetus at risk for this disease. In contrast, while KF-1 antigen was abnormally expressed in the affected mother, it was normally expressed in only 1 7 fetal biopsies despite the fact that this fetus was shown by light and electron microscopy and immunofluorescence mapping to be unaffected with dominant dystrophic EB. We conclude that 1) transmission electron microscopy can be used to prenatally exclude the diagnosis of dominant dystrophic EB (Cockayne-Touraine variety), 2) immunofluorescence mapping is an accurate technique for prenatal as well as postnatal diagnosis of EB, and 3) KF-1 cannot by itself be used as an accurate probe for the prenatal diagnosis of dominant dystrophic EB, due to the apparent variability in the time for the normal expression of KF-1 in fetal skin during the second trimester.

AB - Prenatal diagnosis is now possible for junctional and recessive dystrophic forms of epidermolysis bullosa (EB); however, there is no similar published experience for dominant dystrophic EB, although data with KF-1 monoclonal antibody suggests that both forms of dystrophic EB can be identified at least postnatally with this unique probe. We now report our experience with light microscopy, electron microscopy, immunofluorescence mapping, and KF-1 and LH 7:2 monoclonal antibodies, in both a mother with dominant dystrophic EB and her fetus at risk, and in a fetus previously shown to be affected with recessive dystrophic EB. KF-1 and LH 7:2 antigens were absent in recessive dystrophic EB fetal skin, identical to findings observed postnatally. LH 7:2 was normally expressed in a mother with dominant dystrophic EB and in her fetus at risk for this disease. In contrast, while KF-1 antigen was abnormally expressed in the affected mother, it was normally expressed in only 1 7 fetal biopsies despite the fact that this fetus was shown by light and electron microscopy and immunofluorescence mapping to be unaffected with dominant dystrophic EB. We conclude that 1) transmission electron microscopy can be used to prenatally exclude the diagnosis of dominant dystrophic EB (Cockayne-Touraine variety), 2) immunofluorescence mapping is an accurate technique for prenatal as well as postnatal diagnosis of EB, and 3) KF-1 cannot by itself be used as an accurate probe for the prenatal diagnosis of dominant dystrophic EB, due to the apparent variability in the time for the normal expression of KF-1 in fetal skin during the second trimester.

UR - http://www.scopus.com/inward/record.url?scp=0023756673&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023756673&partnerID=8YFLogxK

M3 - Article

VL - 91

SP - 465

EP - 471

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

SN - 0022-202X

IS - 5

ER -