Skin changes in long-term Wilson's disease

A 45-year-old man was diagnosed with asymptomatic Wilson's disease at age 9 years after family screening due to a sibling with acute liver failure. He started on penicillamine and remained asymptomatic; however, he developed skin changes after 21 years of treatment (figure A, B), and his treatment was switched to zinc acetate as a precaution, since penicillamine can be linked to dermatological issues. The man later had a skin punch biopsy of his neck to confirm these changes as acquired cutis laxa (figure C). Despite the appearance of disease stability, with no apparent worsening of his skin changes and good adherence to zinc, he presented with liver decompensation within 4 years and restarted penicillamine. His liver synthetic function normalised after 12 months. During this period of treatment changes, there was no clear improvement or deterioration in his skin condition.