| Note | radiologic evidence of bone dysplasia not evident in childhood; X-ray findings become apparent during adolescence |
| Phenotype and clinics | main features include: - bone dysplasia (100%)
- cortical growth abnormalities: diaphyseal medullary stenosis with overlying endosteal cortical thickening and scalloping, metaphyseal striations, scattered sclerotic areas symmetrically affecting the long bones; bilateral mandibular radiolucent and sclerotic lesions
- bone infarctions
- pathologic fractures: subsequent poor healing or non-union
- progressive wasting or bowing of the lower extremities
- bone pain
- pre-senile cataracts (25%)
bone malignant fibrous histiocytoma (MFH) (35%) diagnosis: X-ray skeletal findings are unique; however, there may be some radiologic overlap with other diaphyseal dysplasias including Camurati-Engelman and Kenny-Caffey diseases and radiation osteitis; no hematologic or urinary markers of disease have been identified; 201Thallium chloride radionucleotide scans may offer discrimination between areas of increased metabolic bone activity found in DMS-MFH patients and malignant change. |
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| Neoplastic risk | thirteen cases of osseous MFH; thirty-five per cent of DMS-MFH patients develop MFH; the age distribution has been from the second to fifth decades; no sex predilection; in its sporadic form, MFH represents approximately 6% of all bone cancers and is the most frequently occurring adult soft-tissue sarcoma |
| Treatment | no known treatment for the dysplasia; the tumors are highly aggressive treated with surgical ablation and the same chemotherapeutic regimens as osteosarcoma; it is believed that preoperative chemotherapy improves surgical outcome |
| Evolution | the disease becomes radiologically apparent only in adolescence: however, retrospectively, clinical signs and symptoms may be evident in childhood; these include unexplained bone pain and pathologic fractures; in some, crippling pain and weakness of the lower extremities ensues following the sixth decade; malignancy occurs most frequently between the second to fifth decades and is particularly aggressive; only two long-term survivors, greater than five years, are known.; pre-senile cataracts have been noted as early as in the third decade |
| Hereditary bone dysplasia with sarcomatous degeneration. Study of a family. |
| Arnold WH |
| Annals of internal medicine. 1973 ; 78 (6) : 902-906. |
| PMID 4713573 |
| |
| Hereditary bone dysplasia with malignant change. Report of three families. |
| Hardcastle P, Nade S, Arnold W |
| The Journal of bone and joint surgery. American volume. 1986 ; 68 (7) : 1079-1089. |
| PMID 3745248 |
| |
| Malignant fibrous histiocytoma: inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22-evidence for a common genetic defect. |
| Martignetti JA, Gelb BD, Pierce H, Picci P, Desnick RJ |
| Genes, chromosomes & cancer. 2000 ; 27 (2) : 191-195. |
| PMID 10612808 |
| |
| Diaphyseal medullary stenosis (sclerosis) with bone malignancy (malignant fibrous histiocytoma): Hardcastle syndrome. |
| Norton KI, Wagreich JM, Granowetter L, Martignetti JA |
| Pediatric radiology. 1996 ; 26 (9) : 675-677. |
| PMID 8781110 |
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