Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence.

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 alpha 6 integrin and markedly reduced amounts of beta 4 integrin. All the other subtypes of epidermolysis bullosa used as controls demonstrated normal intensity of expression of alpha 6 and beta 4 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 alpha 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 alpha 6 integrin, but not beta 4 integrin, in these cases raises the possibility that alpha 6 integrin or its ligands are responsible for the pyloric atresia-junctional epidermolysis bullosa syndrome phenotype seen in this family.

• Authors: H Shimizu, K Suzumori, N Hatta, T Nishikawa
• Journal: Archives of dermatology (Arch Dermatol) Vol. 132 Issue 8 Pg. 919-25 (Aug 1996) ISSN: 0003-987X [Print] United States
• PMID: 8712842 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antigens, CD
• Integrin alpha6
• Integrins

Topics

• Antigens, CD (biosynthesis)
• Epidermolysis Bullosa, Junctional (diagnosis, genetics, metabolism, pathology)
• Female
• Humans
• Integrin alpha6
• Integrins (biosynthesis)
• Pregnancy
• Prenatal Diagnosis
• Pylorus (abnormalities, metabolism)
• Risk Factors
• Syndrome