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Ehlers-Danlos syndrome type IV (arterial, ecchymotic or Sack type)
most severe form of Ehlers-Danlos syndrome
Pathology:
- connective tissue disorder
Genetics:
- associated with defects in COL3A1
Clinical manifestations:
- hyperextensible skin
- atrophic cutaneous scars due to tissue fragility
- joint hyperlaxity
- facial features (acrogeria) in most patients
- proneness to spontaneous rupture of bowel & large arteries
- vascular complications may affect all anatomical areas
- extensive scar & hyperpignmentation over bony prominences
Related
collagen 3 alpha-1
Specific
Ehlers-Danlos syndrome type IV, autosomal dominant
Ehlers-Danlos syndrome type IV, autosomal recessive
General
Ehlers-Danlos syndrome; cutis elastica (EDS)
Database Correlations
OMIM correlations
MORBIDMAP 120180
References
- Harrison's Principles of Internal Medicine, 14th ed.
Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2189-91
- OMIM :accession 13005