Absence of Detectable  6 Integrin in Pyloric Atresia-Junctional Epidermolysis Bullosa SyndromeApplication for Prenatal Diagnosis in a Family at Risk for Recurrence
Hiroshi Shimizu, MD, PhD;
Kaoru Suzumori, MD, PhD;
Naohito Hatta, MD;
Takeji Nishikawa, MD, PhD
Arch Dermatol. 1996;132(8):919-925.
Abstract
Background and Design
The expression of basement membrane—related antigens was surveyed in 2 Japanese siblings who died of pyloric atresia—junctional epidermolysis bullosa syndrome in early infancy.
Results
The skin specimens of both patients demonstrated complete absence of detectable  6 integrin and markedly reduced amounts of β4 integrin. All the other subtypes of epidermolysis bullosa used as controls demonstrated normal intensity of expression of 6 and β4 integrin. In contrast to the negative immunoreactivity of monoclonal antibody GB3 in gravis-Herlitz junctional epidermolysis bullosa (n=4), a bright linear pattern along the epidermal basement membrane was demonstrated in the skin of both siblings with pyloric atresia—junctional epidermolysis bullosa syndrome. Based on these data, a monoclonal antibody against 6 integrin was successfully used as a prenatal diagnostic probe for a skin biopsy specimen from a fetus at risk for pyloric atresia— junctional epidermolysis bullosa syndrome in this family.
Conclusion
The absence of detectable 6 integrin, but not β4 integrin, in these cases raises the possibility that 6 integrin or its ligands are responsible for the pyloric atresia—junctional epidermolysis bullosa syndrome phenotype seen in this family.
Arch Dermatol. 1996;132:919-925
Author Affiliations
From the Department of Dermatology, Keio University School of Medicine, Tokyo, Japan (Drs Shimizu and Nishikawa); Department of Obstetrics and Gynecology, Nagoya (Japan) City University Medical School (Dr Suzumori); and Department of Dermatology, Kanazawa (Japan) University School of Medicine (Dr Hatta).
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