title: Diaphyseal medullary stenosis (sclerosis) with bone malignancy (malignant fibrous histiocytoma): Hardcastle syndrome.
abstract: Hardcastle syndrome is a rare, autosomally dominant inherited skeletal dysplasia, characterized by diaphyseal sclerosis, medullary stenosis, pathological fractures, bony infarction, and malignant transformation. A 19-year-old proband is presented and discussed, adding a fourth family to the world literature. Radiographic screening of family members is suggested from puberty onward. Thallium scanning is proposed as a more tumor-sensitive screening agent in affected individuals.
authors.affiliation: Department of Radiology, Box 1234, Mount Sinai Hospital and Mount Sinai School of Medicine, City University of New York, One Gustave L. Levy Place, New York, NY 10029-6574, USA.
authors.forename: K I
authors.initials: KI
authors.lastname: Norton
authors.forename: J M
authors.initials: JM
authors.lastname: Wagreich
authors.forename: L
authors.initials: L
authors.lastname: Granowetter
authors.forename: J A
authors.initials: JA
authors.lastname: Martignetti
mesh_terms: D000328:Adult; D000368:Aged; D001706:Biopsy; D001859:Bone Neoplasms / Q000150:complications / Q000000981:diagnostic imaging*; D003966:Camurati-Engelmann Syndrome / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D018483:Diaphyses / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D005360:Fibula / Q000000981:diagnostic imaging; D018219:Histiocytoma, Benign Fibrous / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D015609:Organotechnetium Compounds; D010026:Osteosclerosis / Q000150:complications / Q000000981:diagnostic imaging*; D010375:Pedigree; D013794:Thallium Radioisotopes; D013977:Tibia / Q000000981:diagnostic imaging; D014055:Tomography, Emission-Computed
chemical_list: D015609:Organotechnetium Compounds; D013794:Thallium Radioisotopes