Skin inflammatory (nontumor)
Dermal collagen and elastic tissue alterations, and cutaneous deposits
Pseudoxanthoma elasticum

Topic Completed: 1 August 2011

Minor changes: 29 March 2019

Copyright: 2002-2019,, Inc.

PubMed Search: Pseudoxanthoma elasticum [title]

Mowafak Hamodat, M.B.Ch.B., M.Sc.
Page views in 2019: 2,505
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Cite this page: Hamodat M Pseudoxanthoma elasticum. website. Accessed May 29th, 2020.
Definition / general
  • 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
  • Skin: yellow streaks and plaques, particularly in creases of axillae, groin and neck; appear before puberty
  • Eyes: angioid streaks in retina, causing hemorrhage and visual loss
  • Vessels: degenerative changes in arteries causing mineralization, occlusion or rupture
Case reports
Microscopic (histologic) description
  • 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
  • Abnormal fibers are bright pink with an altered architecture, as they have lost their normal interlacing pattern, but may be faintly basophilic due to calcium
  • 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
Microscopic (histologic) images

Case of the Week #332

Verhoeff's Van Gieson stain for elastic fibers

Positive stains
  • Verhoeff's Van Gieson stain for elastic fibers shows marked degeneration of fibers with a short and curled appearance
  • Von Kossa stain reveals calcium deposition
  • Fibers also stain positive with Alizarin red calcium stain
Electron microscopy description
  • Fragmented and polymorphic elastic fibers in reticular dermis
  • Fibers may contain finely disbursed, mineral crystals
  • Similar changes in carriers
Differential diagnosis
  • Cutis laxa: loss of elastic tissue in the papillary and reticular dermis; fibers are shortened, tapered and degenerate (Arch Dermatol 1965;92:373)
  • Late-onset focal dermal elastosis: normal elastic fibers in the mid- and deep dermis, with no evidence of calcification (Am J Dermatopathol 1999;21:381)
  • Manifestations of pseudoxanthoma elasticum, including cutaneous lesions, angioid streaks and vascular calcification, have been identified in many hemolytic conditions including beta-thalassemia, sickle cell disease and hereditary spherocytosis (Br J Haematol 2003;122:852)
  • Penicillamine therapy: similar skin lesions, but also produces elastosis perforans, serpingiosa and collagen defects
  • Pseudoxanthoma elasticum-like papillary dermal elastolysis occurs in elderly females, systemic lesions are absent; partial or complete elastolysis in the papillary dermis, but calcification is typically absent with normal collagen fibers (Br J Dermatol 1998;139:141)
  • Saltpeter: similar dermal changes histologically and ultrastructurally
Additional references
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