Ehlers–Danlos Syndrome Type IV (Vascular): Dermatological Features

  • Liam Zakko
  • Justin Finch
  • Marti J. Rothe
  • Jane M. Grant-Kels
Chapter

Abstract

Clinical signs and features include:

In general, Ehlers–Danlos syndrome is characterized by skin hyperextensibility, joint hypermobility, and wound healing abnormalities

Type IV (vascular) Ehlers-Danlos is the type most commonly associated with gastrointestinal (GI) pathology

Type IV has less skin hyperextensibility. The major cutaneous finding is very translucent skin with easily visible veins particularly on the chest, abdomen, and extremities. The most common, and often the first sign of the disease, is pronounced bruising.

Series of patients show that 7–25 % of patients experience the first major complication by age 20 years and more than 75 % by age 40 years.

Keywords

Pneumothorax Padding 

References

  1. 1.
    De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet. 2012;82:1–11.PubMedCrossRefGoogle Scholar
  2. 2.
    Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Eng J Med. 2000;342:673–80.CrossRefGoogle Scholar
  3. 3.
    Smith LT, Schwarze U, Goldstein J, Byers PH. Mutations in the COL3A1 gene results in Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collage fibrils of the dermis. J Invest Dermatol. 1997;108:241–7.PubMedCrossRefGoogle Scholar
  4. 4.
    Watanabe A, Shimada T. The vascular type of Ehlers-Danlos syndrome. J Nippon Med Sch. 2008;75:254–61.PubMedCrossRefGoogle Scholar
  5. 5.
    Beighton P, De Paepe A, Steinmann B, et al. Ehlers-Danlos syndromes: revised nosology, Villefrance, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998;77:31–7.PubMedCrossRefGoogle Scholar
  6. 6.
    Malfait F, Wenstrup RJ, De Paepe AD. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010;12:597–605.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Liam Zakko
    • 1
  • Justin Finch
    • 2
  • Marti J. Rothe
    • 2
  • Jane M. Grant-Kels
    • 2
  1. 1.Yale Department of Internal MedicineYale New Haven HospitalNew HavenUSA
  2. 2.Department of DermatologyUniversity of Connecticut Health CenterFarmingtonUSA

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