title: Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis.
abstract: We report on 5-year-old girl with essential osteolysis, nephropathy, corneal opacity, and valvular pulmonary stenosis. The patient was initially seen for evaluation of flexion contractures at wrists, elbows, and knees. Radiographic examination showed osteolytic changes primarily involving the hands and feet. She had persistent proteinuria; renal biopsy disclosed focal glomerulosclerosis in 1/3 of glomeruli. Electron microscopic study of skin fibroblast showed dilated and vacuolated rough endoplasmic reticulum. To our knowledge essential osteolysis associated with the aforementioned disorders has not been previously reported.
authors.affiliation: Department of Pediatrics, Tokai University School of Medicine, Kanagawa, Japan.
authors.forename: O
authors.initials: O
authors.lastname: Shinohara
authors.forename: C
authors.initials: C
authors.lastname: Kubota
authors.forename: M
authors.initials: M
authors.lastname: Kimura
authors.forename: G
authors.initials: G
authors.lastname: Nishimura
authors.forename: S
authors.initials: S
authors.lastname: Takahashi
mesh_terms: D002675:Child, Preschool; D003318:Corneal Opacity / Q000150:complications*; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000150:complications*; D010015:Osteolysis, Essential / Q000150:complications*; D011666:Pulmonary Valve Stenosis / Q000150:complications*; D013577:Syndrome