Human Genetics

, Volume 47, Issue 2, pp 141–150

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome


  • Peter H. Byers
    • Department of PathologyUniversity of Washington
  • Karen A. Holbrook
    • Department of Biological StructureUniversity of Washington
    • Department of MedicineUniversity of Washington
  • Barbara McGillivray
    • Department of Medical GeneticsUniversity of British Columbia
  • Patrick M. MacLeod
    • Department of Medical GeneticsUniversity of British Columbia
  • R. Brian Lowry
    • Department of Medical GeneticsUniversity of British Columbia
Original Investigations

DOI: 10.1007/BF00273196

Cite this article as:
Byers, P.H., Holbrook, K.A., McGillivray, B. et al. Hum Genet (1979) 47: 141. doi:10.1007/BF00273196


Ehlers-Danlos syndrome (EDS) type IV is a clinically and genetically heterogeneous disorder characterized by thin skin, prominent venous vascular markings, markedly increased bruising, and an increased likelihood of large bowel and large artery rupture. We studied two type IV EDS patients. Both have decreased amounts of type III collagen in skin, but ultrastructural examination of dermis showed massive dilation of rough endoplasmic reticulum in dermal fibroblasts in one, but not the other. Both had a major population of collagen fibrils of small diameter. Although previous studies suggested absent synthesis of type III collagen as the hallmark of one type of EDS IV, several abnormalities in metabolism of that type of collagen may be responsible for the phenotype in these disorders. Such disorders are likely to provide better understanding of the function of specific collagens in tissues.

Download to read the full article text

Copyright information

© Springer-Verlag 1979