Connective Tissue Flashcards
1
Q
Presentation of Ehlers Danlos?
A
Stretchy skin, hyper mobility, loose joints, easy bruising, can lead to CVS problems such as BV rupture
2
Q
What causes Marfans?
A
Autosomal dominant- misfolding of fibrillin TF more elastic connective tissue
3
Q
Presentation of Marfans?
A
Arachnodactly, lens dislocation, death usually around 40s due to ruptured aorta
4
Q
How can Marfans be distinguished from Homocystinuria?
A
Marfans will not present with the nervous symptoms that Homocystinuria presents with
5
Q
What causes Ehlers Danlos?
A
lots- main ones: Lysyl oxidase deficiency OR mutation in type III collagen (reticulin- makes up basement membrane TF very stretchy skin)
