Case Number : Case 2728 - 21 December 2020 Posted By: Richard Logan

There are obviously more pressing matters to attend to at the moment than commenting on these slides.  Perhaps I can break the seasonal silence.  Like a beggar putting a few coins in his hat to stimulate the generosity of passers-by, here's a clue:

The patient's renal stones were due to cystinuria.

?Penicillamin induced cutis laxa and milia. 

 may be penicillamine induced Psudo PXE as suggested by Dr. Vincenzo 

i have never seen these cases

clinical information give a clue.

I was thinking of oxalosis, but histology of oxalosis will not be like this. Then primary oxalosis is a systemic disease. 

Spot-on gentlemen. 

The patient had been treated for some years with penicillamine for his cystinuria.   This is an example of penicillamine dermopathy.  I haven't found another case on the website, which is why I posted this one.

Penicillamine impairs the cross-linking of new elastic and collagen fibres.  In this case the dermatological presentation of skin fragility and milia rather than elastosis perforans serpiginosa suggests that his collagen fibres were more affected than the elastin.  I think this is borne out by the histological features where we see abnormal, short, serrated collagen fibres.  However, I think the elastic fibres are also affected, appearing short and fractured, if not clumped.

Very interesting points. Thanks, Richard. 

Great case! Thanks for sharing