Diaphyseal medullary stenosis (sclerosis) with bone malignancy (malignant fibrous histiocytoma): Hardcastle syndrome

K I Norton; J M Wagreich; L Granowetter; J A Martignetti

doi:10.1007/BF01356833

Diaphyseal medullary stenosis (sclerosis) with bone malignancy (malignant fibrous histiocytoma): Hardcastle syndrome

Pediatr Radiol. 1996 Sep;26(9):675-7. doi: 10.1007/BF01356833.

Authors

K I Norton¹, J M Wagreich, L Granowetter, J A Martignetti

Affiliation

¹ 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.

PMID: 8781110
DOI: 10.1007/BF01356833

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.

Publication types

Case Reports

MeSH terms

Adult
Aged
Biopsy
Bone Neoplasms / complications
Bone Neoplasms / diagnostic imaging*
Camurati-Engelmann Syndrome / complications
Camurati-Engelmann Syndrome / diagnostic imaging*
Camurati-Engelmann Syndrome / genetics
Diaphyses / diagnostic imaging*
Diaphyses / pathology
Female
Femur / diagnostic imaging
Fibula / diagnostic imaging
Histiocytoma, Benign Fibrous / complications
Histiocytoma, Benign Fibrous / diagnostic imaging*
Humans
Magnetic Resonance Imaging
Male
Organotechnetium Compounds
Osteosclerosis / complications
Osteosclerosis / diagnostic imaging*
Pedigree
Thallium Radioisotopes
Tibia / diagnostic imaging
Tomography, Emission-Computed

Substances

Organotechnetium Compounds
Thallium Radioisotopes