A CASE OF SYSTEMIC PSEUDO-PSEUDOXANTHOMA ELASTICUM WITH DIVERSE SYMPTOMATOLOGY CAUSED BY LONG-TERM PENICILLAMINE USE

A 47 year old man presented with a two year history of increasing cerv ical dysphagia, dyspnoea, and cutaneous signs. He had been diagnosed 2 7 years previously with Wilson's disease and was treated with penicill amine (1.5 g daily). Systemic abnormality of elastic fibres was confir med by light and electron microscopy following biopsy of skin, lung, o esophageal muscle, gum, pharyngeal tissue, and cervical connective tis sue. Dysphagia was relieved by cricopharyngeal myotomy. Substitution o f trientene dihydrochloride for penicillamine relieved cutaneous and s ystemic manifestations. This is possibly the first case demonstrating an association between prolonged penicillamine use and biopsy proved s ystemic pseudo-pseudoxanthoma elasticum. The presenting symptoms may h ave resulted from the abnormal numbers and properties of elastic fibre s, and the changes were caused by penicillamine use, rather than by id iopathic, inherited pseudoxanthoma elasticum.