Rheumatology · Pathway 75
Pseudoxanthoma Elasticum
Key points
- Pseudoxanthoma elasticum is an inherited condition (usually autosomal recessive) characterised by an abnormality in elastic fibres
- Features: retinal angioid streaks; 'plucked chicken skin' appearance — small yellow papules on the neck, antecubital fossa and axillae
- Cardiac: mitral valve prolapse, increased risk of ischaemic heart disease
- Gastrointestinal haemorrhage may also occur
- A minority of cases show autosomal dominant inheritance