Hereditary bone dysplasia with malignant change. Report of three families.
In this paper three families are reported with members who had hereditary bone dysplasia that was originally described by Arnold in one family. We provide further information about that family and suggest that the diagnosis of the malignant change should be changed from fibrosarcoma to malignant fibrous histiocytoma. A thorough search of the literature has failed to reveal any conditions, either hereditary or acquired, that are similar. The major feature of the dysplasia is diaphyseal medullary stenosis of bone with overlying cortical-bone thickening, and the propensity to malignant transformation and fractures with minimum trauma is emphasized. The tumors in seven, and possibly eight, of the nine patients in whom a malignant lesion developed were originally classified as fibrosarcoma and proved to be markedly aggressive. The hereditary pattern appears to be autosomal dominant. The clinical manifestations of a malignant lesion occur generally in the second to the fifth decades of life.
D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications / Q000235:genetics*; D001859:Bone Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002386:Cataract / Q000150:complications / Q000235:genetics; D002648:Child; D005260:Female; D005354:Fibrosarcoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree