The study presents the case of a 14-year-old child with Wilson disease (WD) who developed pseudo-pseudoxanthoma elasticum (PPXE) after 4.5 years of D-penicillamine therapy. Although earlier documented instances occurred in adults after at least a decade of high-dose D-penicillamine usage, this case shows that D-penicillamine-induced PPXE can develop in children with shorter treatment courses. Following this diagnosis, the patient was transferred from D-penicillamine to trientine, which resulted in sufficient cupriuresis and skin lesion stability. Prompt identification and treatment of PPXE in children can avoid systemic progression and long-term consequences.
Reference: https://journals.lww.com/jpgn/Abstract/2020/12000/Pediatric_Pseudo_pseudoxanthoma_Elasticum.9.aspx
