Tuesday, 21 September 2010

MRCP revision battle 17.6: Pseudoxanthoma elasticum

Pseudoxanthoma elasticum is fragmentation and calcification of elastic fibres.

It is an autosomal recessive condition, found on chromosome 16.

Its various associations are:
  • a characteristic 'plucked chicken' skin (google it, memorise it, get ready to spot it in part 2)
  • angioid streaks in retina/vision problems
  • rarely GI bleeds
  • claudication/cardiovascular problems.

There is no treatment so management is symptomatic only.

Thats all for today, proceed to the war if you are up to.