Inflammatory Diseases of the Skin
Moderator: Dr. Lorenzo Cerroni
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
Case 5 - Slide 2
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
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.
- 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.