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Skin-nontumor

Other dermatoses

Pseudoxanthoma elasticum

Reviewer: Mowafak Hamodat MB.CH.B, MSc., FRCPC (see Reviewers page)
Revised: 5 September 2011, last major update August 2011
Copyright: (c) 2002-2011, PathologyOutlines.com, Inc.

Definition
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● Genetic disorder with ocular, vascular and skin lesions due to mutations of ABCC/MRP6 gene at 16p13.1, coding for ATP-binding protein, and causing degeneration of elastic fibers
● Variable penetrance, even within the same family
● Autosomal dominant or recessive, usually women
● Vessels: degenerative changes in arteries causing mineralization, occlusion or rupture
● Eyes: angioid streaks in retina, causing hemorrhage and visual loss
● Skin: yellow streaks and plaques, particularly in creases of axillae, groin and neck; appear before puberty

Case reports
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● 26 year old with sudden death while dancing, due to intramyocardial arteriolar involvement (Hum Pathol 2000;31:1002)
● 51 year old man with plaques on arm (Dermatol Online J 2001;7:16)

Micro description
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● Affected elastic fibers are basophilic and irregular, appearing as widely dispersed granular material amidst normal collagen fibers; may have a bizarre appearance reminiscent of a bishop’s crook
● Increased dermal mucin may be evident
● Vascular involvement consists of fragmentation of the internal and external elastic laminae, accompanied by intimal thickening, resulting in weakness of the vessel wall and a tendency towards rupture and aneurysm formation
● Eye: calcifications of Bruch’s membrane, which separates the choroid from the pigment epithelium of the retina

Micro images
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Various images

Positive stains
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● Fibers stain positive with Von Kossa calcium stain or Alizarin red stain

Electron microscopy
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● Fragmented and polymorphic elastic fibers in reticular dermis
● Fibers may contain finely disbursed, mineral crystals
● Similar changes in carriers

Differential diagnosis
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● Clinically resembles pseudoxanthoma elasticum-like papillary dermal elastolysis, late onset dermal elastosis and calciphylaxis
● Penicillamine therapy: similar skin lesions, but also produces elastosis perforans, serpingiosa and collagen defects
● Saltpeter: similar dermal changes histologically and ultrastructurally

Additional references
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● eMedicine

End of Skin-nontumor > Other dermatoses > Pseudoxanthoma elasticum

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