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Sack-Barabas syndrome

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Patients with this syndrome have very thin and almost transparent skin. The cardinal clinical feature is excessive bruising. This is due to blood vessel wall fragility. There is no haematological defect. Skin and joint hyper extensibility is not pronounced. Rupture of major arteries is common. Condition is inherited as dominant characteristics, but there are many cases without a family history (new mutations). The basic biological defect has been identifies in mutations in type III collagen.

See also Ehlers-Danlos syndrome, under Edvard Lauritz Ehlers, Danish dermatologist, 1863-1937.

We thank Andras P. Barabas for information submitted.

Bibliography

  • G. Sack:
    Status Dysvascularis, ein Fall von besonderer Zerreisslichkeit der Blutgefässe. Deutsches Archiv für klinische Medicin, Leipzig, 1936, 178: 663-669.
  • A. P. Barabas:
    Vascular complications in the Ehler-Danlos syndrome.
    The Journal of cardiovascular Surgery, Torino, 1972, 13: 160-167. The best recent summary of this syndrome appeared in an Editorial of the New England Journal of Medicine, 2000, 342: 730-2. This leading article also acknowledges that Barabas was the first clinician to describe this disease entity.

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