Case 5 -

Elastic Tissue Changes Consistent with Elastosis Perforans Serpiginosa Due to Penicillamine Therapy James W. Patterson, M.D.

Classic elastosis perforans serpiginosa (EPS) presents as arcuate papules distributed over the neck, arms, trunk and face, sometimes in a bilaterally symmetrical fashion. It most often presents in males in the second decade of life, and may be familial with an autosomal dominant inheritance pattern. About one third of cases are associated with heritable disorders of connective tissue such as Ehlers-Danlos syndrome, cutis laxa, osteogenesis imperfecta, Down's syndrome, Marfan's syndrome, or acrogeria, but examples have also been reported in scleroderma and chronic renal failure. Case 5 - Slide 1 Click to view with ImageScope Click to view with a Web-Based Viewer Case 5 - Slide 2 Click to view with ImageScope Click to view with a Web-Based Viewer Similar changes have also been reported in patients receiving penicillamine for Wilson's disease or cystinuria. They are less common among rheumatoid arthritic patients receiving the drug, probably because high doses of the drug administered over long periods of time are generally required to elicit the elastic tissue changes. Significantly, as in this case, elastic fiber changes can be seen in normal appearing or only slightly altered skin. They can also be found in other organs, including lungs and arteries. Microscopically, both forms of EPS show thick, coarse elastic fibers that undergo transepidermal elimination. However, in penicillamine-induced disease the elastic fibers show characteristic "lumpy bumpy" deposits that can produce the appearance of "railroad tracks" in tissue sections. These changes are somewhat subtle in H&E stained sections but are well demonstrated with the Verhoeff-van Gieson method. Increased numbers of these thickened elastic fibers are noted in the reticular dermis when compared to the papillary dermis. On ultrastructural study, elastic fibers have a normal core but demonstrate a coat comprised of spine-like protrusions. The abnormal elastic fibers are believed to result either from local depletion of copper, a necessary co-factor in elastin formation, or the effect of penicillamine on elastin biosynthesis. Improvement follows discontinuation of the drug. References: Bardach H, Gebhart W et al: "Lumpy-bumpy" elastic fibers in the skin and lungs of a patient with a penicillamine-induced elastosis perforans serpginosa. J Cutan Pathol 1979; 6: 243-252. Price RG, Prentice RS: Penicillamine-induced elastosis perforans serpiginosa. Tip of the iceberg? Am J Dermatopathol 1986; 8: 314-320. Reymond JL, Stoebner P et al: Penicillamine induced elastosis perforans serpiginosa: an ultrastructural study of two cases. J Cutan Pathol 1982; 9: 352-357. Sahn EE, Maize JC et al: D-penicillamine-induced elastosis perforans serpiginosa in a child with juvenile rheumatoid arthritis. Report of a case and review of the literature. J Am Acad Dermatol 1989; 20: 979-988.