Pseudoxanthoma elasticum Flashcards
1
Q
Inheritance
A
autosomal recessive
2
Q
What problem does Pseudoxanthoma elasticum
cause?
A
abnormality in elastic fibres
3
Q
Clinical features
A
- retinal angioid streaks
- ‘plucked chicken skin’
(yellow papules on neck, antecubital fossa and axillae) - mitral valve prolapse
- risk of ischaemic heart disease
- GI haemorrhage
4
Q
A
