Elastosis Perforans Serpiginosa and Wilson Disease: A Rare but Predictable Consequence of Long-term Therapy with D-Penicillamine

Abstract

Elastosis perfurans serpiginosa is a rare perforating dermatosis found primarily in adolescents and young adults, characterized by transepidermal elimination of abnormal elastic fibers. The only drug known capable of inducing elastosis perfurans serpiginosa is D-penicillamine. We report the case of a 52 year-old woman with keratotic papules arranged in an annular pattern with central clearing and centrifugal growth, located in the anterior cervical region. The patient was chronically treated with D-penicillamine for Wilson disease. Lesion biopsy showed transepidermal elimination of thickened, eosinophilic, branched, sawtooth-like elastic fibers. The clinical and pathological findings were consistent with elastosis perfurans serpiginosa secondary to D-penicillamine. It is estimated that elastosis perfurans serpiginosa occurs in 1% of patients treated with D-penicillamine. By blocking directly or indirectly the desmosine cross-links between elastin molecules, D-penicillamine leads to the synthesis of abnormal dermal and extracutaneous elastic fibers. Elastosis perfurans serpiginosa may be the first manifestation of a multisystemic degenerative process of elastic connective tissue.