Ehlers-Danlos syndrome describes a group of inherited connective tissue disorders. There are several different types, but the common features exhibited to various degrees in all types are:
- Joint hypermobility
- Skin hyperextensibility
- Fragile skin
The majority of types are inherited in an autosomal dominant fashion.
4 of the types of Ehlers-Danlos syndrome are briefly described below:
- Classical type (type I and II)
- Key features
- Fragile skin which heals with ‘cigarette paper’ scars
- Hypermobile joints
- Hypermobility type (type III)
- Most prominent features is hypermobile joints
- May have chronic joint pain
- Vascular type (type IV)
- Sometimes considered the ‘malignant’ form of Ehlers-Danlos syndrome due to risk of
- spontaneous rupture of arteries
- spontaneous rupture of bowel
- Skin appears translucent and thin but is only mildly hyperextendable
- Widespread bruising
- Characteristic facial appearance – sunken eyes, prominent cheekbones
- type III collagen affected
