American Journal of Clinical Dermatology

, Volume 7, Issue 5, pp 323–326

Collagen Fibril Arabesques in Connective Tissue Disorders

  • Trinh Hermanns-Lê
  • Gérald E. Piérard
Original Research Article

Abstract

Background: In various connective tissue disorders, collagen fibrils and elastic fibers may exhibit some ultrastructural abnormalities.

Objective: This electron microscopy study focused on collagen fibril orientation and unusual shapes in the dermis of Ehlers-Danlos syndrome (EDS) and related entities, including spontaneous cervical artery dissection syndrome and recurrent preterm premature rupture of fetal membranes syndrome.

Results: In addition to some abnormal fibril shapes typically found in these syndromes, other conformations (hook shaped, S shaped, ring shaped) that have not been illustrated previously in the literature were observed.

Conclusion: The abnormal collagen fibril conformations observed in EDS and other related conditions characterized by tissue fragility likely affect both the internal cohesiveness of the bundles and the mechanobiologic properties of the tissue.

References

  1. 1.
    Vogel A, Holbrook KA, Steinmann B, et al. Abnormal collagen fibril structure in the gravis form (type I) of the Ehlers-Danlos syndrome. Lab Invest. 1979; 40: 201–6PubMedGoogle Scholar
  2. 2.
    Holbrook KA, Byers PH. Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective disorders. J Invest Dermatol. 1982; 79 Suppl. 1: 7S–11SPubMedCrossRefGoogle Scholar
  3. 3.
    Piérard GE, Piérard-Franchimont C, Lapière CM. Histopathology aid at the diagnosis of the Ehlers-Danlos syndrome gravis and mitis types. Int J Dermatol. 1983; 22: 300–4PubMedCrossRefGoogle Scholar
  4. 4.
    Piérard GE, Lê T, Piérard-Franchimont C, et al. Morphometric study of cauliflower collagen fibrils in Ehlers-Danlos syndrome type I. Coll Rel Res. 1988; 8: 453–7CrossRefGoogle Scholar
  5. 5.
    Nusgens BV, Verellen-Dumoulin C, Hermanns-Lê T, et al. Evidence for a relationship between Ehlers-Danlos type VIIC in human and bovine dermatosparaxis. Nat Genet. 1992; 1: 214–7PubMedCrossRefGoogle Scholar
  6. 6.
    Watson RB, Wallis GA, Holmes DF, et al. Ehlers-Danlos syndrome type II B: incomplete cleavage of the patient’s abnormal type I collagen by N-proteinase results in the formation of rough-bordered collagen fibrils characteristic of the disorder. J Biol Chem. 1992; 267: 25529–34Google Scholar
  7. 7.
    Piérard GE, Hermanns-Lê T, Arrese-Estrada J, et al. Structure of the dermis in type VIIC Ehlers-Danlos syndrome. Am J Dermatopathol. 1993; 15: 127–32PubMedCrossRefGoogle Scholar
  8. 8.
    Hausser I, Anton-Lamprecht I. Differential ultrastructural aberration of collagen fibrils in Ehlers-Danlos syndrome type I-IV as a mean of diagnostics and classification. Hum Genet. 1994; 3: 394–407Google Scholar
  9. 9.
    Smith TL, Schwarze U, Goldstein J, et al. Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. J Invest Dermatol. 1997; 108: 241–7PubMedCrossRefGoogle Scholar
  10. 10.
    Hermanns-Lê T. How I explore... some cutaneous disorders by the ultrastructural examination of the skin. Rev Med Liege. 2000; 55: 954–6PubMedGoogle Scholar
  11. 11.
    Flagothier C, Goffin V, Hermanns-Lê T, et al. A 4-generation Ehlers-Danlos syndrome with vascular dissections: skin ultrastructure and biomechanical properties. J Med Eng Technol. Epub 2006 Mar 29Google Scholar
  12. 12.
    Brandt T, Hausser I, Orbek E, et al. Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissections. Ann Neurol. 1988; 44: 281–5CrossRefGoogle Scholar
  13. 13.
    Brandt T, Orbek E, Weber R, et al. Pathogenesis of cervical artery dissections: association with connective tissue abnormalities. Neurology. 2001; 57: 24–30PubMedCrossRefGoogle Scholar
  14. 14.
    Hermanns-Lê T. How I explore... some vascular disorders using ultrastructural assessment of the skin. Rev Med Liege. 2004; 59: 598–600PubMedGoogle Scholar
  15. 15.
    Ulbricht D, Diederich NJ, Hermanns-Lê T, et al. Cervical artery dissection: the single clinical sign of a connective tissue disorder?. Neurology. 2004; 63: 1708–10PubMedCrossRefGoogle Scholar
  16. 16.
    Hermanns-Lê T, Piérard GE, Quatresooz P. Ehlers-Danlos-like dermal abnormalities in women with recurrent preterm premature rupture of the fetal membranes. Am J Dermatopathol. 2005; 27: 407–10PubMedCrossRefGoogle Scholar
  17. 17.
    Piérard GE, Lê T, Hermanns JF, et al. Morphometric study of cauliflower collagen fibrils in dermatosparaxis of the calves. Coll Rel Res. 1986; 6: 481–92CrossRefGoogle Scholar
  18. 18.
    Kobayasi T, Ullman S. Twisted collagen fibrils: significance for diagnosis of Ehlers-Danlos syndrome [abstract]. J Invest Dermatol. 1996; 107: 266Google Scholar
  19. 19.
    Kobayasi T, Ullman S. Acrocyanosis and Ehlers-Danlos syndrome. Eur J Dermatol. 1995; 5: 167–8Google Scholar
  20. 20.
    Kobayasi T, Ullman S. Twisted collagen fibrils in acrocyanosis. Eur J Dermatol. 1999; 9: 285–8PubMedGoogle Scholar
  21. 21.
    De Moraes AM, Cintra ML, de Almeida Prado Sampaio S, et al. The ultrastructural and histophotometric study of elastic and collagen fibers in type II Ehlers-Danlos syndrome and subclinical forms. Ultrastruct Pathol. 2000; 24: 129–34PubMedCrossRefGoogle Scholar
  22. 22.
    Oxlung H. Relationships between the biomechanical properties, composition and molecular structure of connective tissues. Connect Tissue Res. 1986; 15: 65–72CrossRefGoogle Scholar
  23. 23.
    Piérard GE, the EEMCO group. EEMCO guidance to the in vivo assessment of tensile functional properties of the skin: part 1. Relevance to the structures and ageing of the skin and subcutaneous tissues. Skin Pharmacol Appl Skin Physiol. 1999; 12: 352–62PubMedCrossRefGoogle Scholar
  24. 24.
    Zweers MC, van Vlijmen-Willems IM, van Kuppevelt TH, et al. Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol. 2004; 122: 885–91PubMedCrossRefGoogle Scholar
  25. 25.
    Hermanns-Lê T, Piérard GE. Ultrastructural modifications of elastic fibers in the skin of Ehlers-Danlos syndrome hypermobile type. Am J Dermatopathol. In press.Google Scholar
  26. 26.
    Graham R, Beighton P. Physical properties of the skin in the Ehlers-Danlos syndrome. Ann Rheum Dis. 1969; 28: 246–51CrossRefGoogle Scholar
  27. 27.
    Piérard GE, Lapiére ChM. Microanatomy of the dermis in relation to relaxed skin tension line and Langer’s lines. Am J Dermatopathol. 1987; 9: 219–24PubMedCrossRefGoogle Scholar

Copyright information

© Adis Data Information BV 2006

Authors and Affiliations

  • Trinh Hermanns-Lê
    • 1
  • Gérald E. Piérard
    • 1
  1. 1.Department of DermatopathologyUniversity Hospital of Liège, CHU Sart TilmanLiègeBelgium

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