Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology

Manon C. Zweers, Ivonne M. Van Vlijmen-Willems, Toin H. Van Kuppevelt, Robert P. Mecham, Peter M. Steijlen, Jim Bristow, Joost Schalkwijk

Research output: Contribution to journalArticle

62 Scopus citations

Abstract

Deficiency of the extracellular matrix protein tenascin-X (TNX) was recently described as the molecular basis of a new, recessive type of Ehlers-Danlos syndrome. Here we report gross abnormalities of the elastic fibers and microfibrils in the dermis of these patients, and reduced dermal collagen content, as determined by quantitative image analysis. The ascending, fine elastic fibers in the papillary dermis were absent or inconspicuous and had few branches. The coarse elastic fibers of the reticular dermis were fragmented and clumped. At the ultrastructural level, irregular and immature elastin fibers and fibers devoid of microfibrils were observed. In TNX-deficient patients the dermal collagen density was reduced, but no structural abnormalities in the collagen fibrils were found. These findings suggest that both elastic fiber abnormalities and reduced collagen content contribute to the observed phenotype in TNX-deficient patients.

Original languageEnglish
Pages (from-to)885-891
Number of pages7
JournalJournal of Investigative Dermatology
Volume122
Issue number4
DOIs
StatePublished - Apr 2004

Keywords

  • Connective tissue
  • Dermis
  • Ehlers-Danlos syndrome
  • Immunohistochemistry

Fingerprint Dive into the research topics of 'Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology'. Together they form a unique fingerprint.

  • Cite this

    Zweers, M. C., Van Vlijmen-Willems, I. M., Van Kuppevelt, T. H., Mecham, R. P., Steijlen, P. M., Bristow, J., & Schalkwijk, J. (2004). Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. Journal of Investigative Dermatology, 122(4), 885-891. https://doi.org/10.1111/j.0022-202X.2004.22401.x