Hereditary multiple exostoses: report of a kindred.

Multiple Rib Exostoses in a Boy: A Rare CaseResulting in Surgery Secondary to Cosmetic Concerns

A seven year-old boy with several painless masses on the ribs and shoulder was referred to our hospital. The masses were so prominent that they prevented the child’s sleep. Since the patient had been ridiculed by his friends due to the rib prominences, he had refused to attend school. After clinical and radiological evaluations, the masses were diagnosed as hereditary multiple exostoses of the ...

Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation.

Case Report The first step in the investigation of suspected acute porphyria is measurement of urinary s-aminolaevulic acid (ALA) and porphobilinogen (PBG). When raised, acute porphyria is suggested. These tests do not discriminate between the various types of porphyria, and they return to normal limits within 7-10 days of onset of symptoms. Genetic analysis subsequently confirmed a previously ...

Giant chondrosarcoma and multiple hereditary exostoses: a very rare case report.

Spinal Exostosis in a Boy with Multiple Hereditary Exostoses

We report on a 13-year-old boy who presented with multiple hereditary exostosis and had development of back pain, associated with neurological deficits, and was found to have exostoses in the spinal canal. Spine radiograph showed a cauliflower-like abnormality of multiple exostoses of the posterior arch (pedicle) of the thoracic vertebrae (T3-5). Reformatted CT scanning revealed the simultaneou...

Hereditary multiple exostoses: A case-report.