title: Skin and bone lesions (dermato-osteolathyrism), possible side effects of D-penicillamine treatment, in a boy with cystinuria.
abstract: A 2 1/4 year-old boy was treated for cystinuria and urolithiasis with high fluid intake, sodium bicarbonate, and D-penicillamine, over a period of 5 3/4 years, unauthorized interruptions and prescribed pauses included. Therapy was partially sucessful but regrowth of calculi coincided with interruptions of D-penicillamine administration and also with the institution of a low-dose D-penicillamine regime. Flat feet, scoliosis, pectus carinatum, hypermobility of joints, molluscoid pseudotumors and atrophic scars were alarming side effects of D-penicillamine. However, the possibility was not excluded that a forme fruste of an Ehlers-Danlos syndrome preexisted in this boy and was effected by D-penicillamine. Only the molluscoid pseudotumors regressed when D-penicillamine was reduced or omitted temporarily. Osteolathyrism caused by D-penicillamine has hitherto not been reported in man.
mesh_terms: D001284:Atrophy; D001639:Bicarbonates / Q000627:therapeutic use; D001847:Bone Diseases / Q000139:chemically induced*; D001842:Bone and Bones / Q000187:drug effects; D002675:Child, Preschool; D003555:Cystinuria / Q000188:drug therapy*; D003875:Drug Eruptions; D004535:Ehlers-Danlos Syndrome; D005413:Flatfoot / Q000139:chemically induced; D006801:Humans; D007592:Joint Diseases / Q000139:chemically induced; D007669:Kidney Calculi / Q000188:drug therapy*; D007842:Lathyrism / Q000139:chemically induced*; D008297:Male; D010396:Penicillamine / Q000009:adverse effects* / Q000627:therapeutic use; D012008:Recurrence; D012600:Scoliosis / Q000139:chemically induced; D012867:Skin / Q000187:drug effects / Q000473:pathology; D012871:Skin Diseases / Q000139:chemically induced*; D001744:Urinary Bladder Calculi / Q000188:drug therapy*
chemical_list: D001639:Bicarbonates; D010396:Penicillamine