A 41-year-old patient with hepatolenticular degeneration (Wilson disease), who had been treated for 15 years with penicillamine, developed small white papules at sites of venipuncture in the antecubital fossae and at surgical suture sites. Histologically, these papules showed focal areas of connective tissue degeneration in the dermis, but there was no evidence of inclusion cysts. The changes most likely resulted from the effect of penicillamine on new connective tissue formation at the sites of injury. The patient also developed crinkling of the skin of her face and neck while on the penicillamine regimen, and these changes were attributed, at least in part, to the effects of this drug on connective tissue.
Wilson's disease (WD), also known as hepatoleticular degeneration (HLD), is a rare autosomal recessive genetic disorder of copper metabolism, which causes copper to accumulate in body tissues. In this study, rats fed with copper-laden diet are used to render the clinical manifestations of WD, and their copper toxicity-induced organ lesions are studied. To investigate metabolic behaviors of 'decoppering' process, penicillamine (PA) was used for treating copper-laden rats as this chelating agent could eliminate excess copper through the urine. To date, there has been limited metabolomics study on WD, while metabolic impacts of copper accumulation and PA administration have yet to be established.