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In this section we have spot diagnoses posted on a daily basis since June 2010, now over 1700! You can review the archived cases and read the suggested diagnoses by users and the final comment by Dr Uma Sundram, the Editor-in-Chief and main spot diagnosis host. Case are uploaded each week day by 10 a.m. UK time with the correct diagnosis will generally be posted at 8 p.m. UK time. Why not view the most recent spot diagnosis and proffer a diagnosis?

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

Please read the clinical history and view the images by clicking on them before you proffer your diagnosis.
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M36, Renal stones. Fragility and blistering of skin on knees and elbows for 3 years.


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Richard Logan

Posted

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.

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Krishnakumar subramanian

Posted

 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. 

 

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Richard Logan

Posted

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.

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Great case! Thanks for sharing

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