Diaphyseal medullary stenosis (sclerosis) with bone malignancy (malignant fibrous histiocytoma): Hardcastle syndrome.
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.
Norton
K I
KI
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.
Wagreich
J M
JM
Granowetter
L
L
Martignetti
J A
JA
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
D015609:Organotechnetium Compounds; D013794:Thallium Radioisotopes