Quiz time again!
You see this patient in Station 5: skin.
Describe the skin finding. Then, outline the other system involvements that are relevant to this condition.
posted by Dr. David Teoh @ 1/31/2008 06:29:00 AM
Thursday, January 31, 2008
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7 Comments:
plucked chicken skin of psudoxanthoma elasticum; check BP, fundus for angiod streaks, CVS for MVP murmur, peripheral pulses and rule out UGI bleed.
Plucked chicken appearance with yellowish hue suggestive of Pseudo xanthoma elasticum.
I would like to proceed to inspect other areas like; axilla, ante cubital fossa and groin for similar appearance and demonstrate hyperflexibility of joints.
Tell the examiner that I would like to examine CVS for MVP/MR/AR, Fundus for angioid streaks.
Would like to rule out GI bleed
I would like to proceed to inspect other areas like; axilla, ante cubital fossa and groin for similar appearance and demonstrate hyperextensibility of joints.
Tell the examiner that I would like to examine CVS for MVP/MR/AR, Fundus for angioid streaks.
Would like to rule out GI bleed
I will discribe this lesion as erythematous wheal like lesions with defined border around the neck of a person wearing a neck lace.I will first think that this is probably contact dermatitis due to the component of the neck lace most likely nickle.I will examine her flexural areas, the nails for ridging, ,the chest for signs of astham.AsI will consider the pluckled skin lesion of pseudoxathoma elasticum.I will examine for joint and skin hypermobility and hyperextensibility.I will look for angiod streak on the fundus,murmur of mitral valve prolap,asked for history of melena and probably request for ECG as ischemic heart dis is common at ealy age.
Bingo, it is Pseudoxanthoma elasticum (PXE).
To be more precise, what is the pattern of inheritance? What gene is affected in PXA?
inheritance can be both aut recessive or aut dominant, though the former is common.
gene affected is mapped to
chromosome 16
It is AR in inheritance. The gene is ABCC6.
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