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Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis.

Forty-two radiographs and charts of twenty-two patients with a diagnosis of hereditary multiple exostosis and hand involvement were examined to determine the incidence of hand exostoses and association with brachydactyly. An average of 11.6 exostoses were found per hand. The proximal phalanges and metacarpals are affected in the majority of patients and the thumb and distal phalanges are rarely involved. Most exostoses were located in the juxtaepiphyseal region (61.8%) and typically involved less than 50% of the bone diameter. Brachydactyly can be seen in patients with hereditary multiple exostosis when no exostoses is present; however, the presence of an exostosis results in even more shortening. The location and size of the exostosis had no relationship to increased bone shortening. Operative treatment was required in four of twenty-two patients for debulking and impingement.

Child↗

A man with hereditary exostoses and high-grade non-Hodgkin's lymphoma of the bone.

Multiple cartilaginous exostoses (MCE) is an autosomal dominant disorder that can lead to malignant transformation from exostoses to a secondary chondrosarcoma. We present a case report of a 52-year-old man with MCE who had a palpable mass at the left shoulder. At the site of the left proximal humerus, a cartilaginous exostosis was localized, suggesting that the tumor developed by a malignant transformation of an exostosis into a secondary chondrosarcoma. Interestingly, a biopsy showed a diffuse large B-cell lymphoma with Burkitt-like features. To our knowledge, the association of high-grade lymphoma and hereditary exostoses has not been described previously. This case demonstrates that a malignant tumor at the location of a cartilaginous exostosis is not necessarily a chondrosarcoma and that a biopsy is an essential part of the diagnostic work-up.

Bone Neoplasms↗

Case report 622. Multiple cartilaginous exostoses.

The case is presented of multiple cartilaginous exostoses involving the right and left metatarsals and phalanges, left scapula, ends of several distal ribs, and the spinous processes of several thoracic and lumbar vertebrae in a 3-month-old female Scottish terrier dog. Radiographical studies showed circumscribed expansile lesions in the affected bones. The dog developed neurological deficits 3 weeks later. Myelography displayed extradural compression of the opaque column at several thoracolumbar vertebrae. The biopsy specimen from an affected phalanx consisted of trabecular bone and hemopoietic tissue covered by a thin cap of hyaline cartilage. The dog was euthanized due to the poor prognosis. At autopsy, the surface of the affected bones was covered by a bluish-white, smooth, undulating cartilage cap. Histopathologically, the cartilaginous cap consisted of hyaline cartilage without a reserve zone, and abnormal endochondral ossification. The hereditary nature and the malignant transformation of multiple cartilaginous exostoses in the dog have been considered.

Animals↗