Penicillamine-induced virginal mammary hypertrophy

Abstract

Wilson disease is an autosomal recessive genetic disorder caused by the accumulation of copper within the human body. It is the most common inherited liver disease, and its symptoms may vary depending on the affected organs. In general, liver related symptoms such as fatigue, nausea and vomiting or jaundice develop in childhood whereas central nervous system related symptoms such as personality change or psychosis develop in late adulthood. Failure to excrete copper leads to various symptoms such as vomiting, weakness, itching, tremor, muscle stiffness, and psychosis, as the brain and liver are the most commonly involved organs. Penicillamine is a metal antagonist that increases urinary copper excretion by chelation. The adverse effects of penicillamine are known to include irreversible neurologic deficits, hypersensitivity, marrow suppression, proteinuria, and teratogenic syndrome [1]. Although rare, virginal mammary hypertrophy (VMH) induced by penicillamine has been reported [2]. In this report, we would like to share our experience of the diagnosis and treatment of penicillamine-induced VMH that developed in a patient with Wilson disease.