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JAMA Clinical Challenge

Familial History of Bone Tumors

Image of patient presenting with bony masses on both legs, particularly near his knees, present

Hsien-Yi Chiu, MD
Hsien-Ching Chiu, MD
A 61-year-old man presents with progressive chronic pain of his lower extremities and episodes of dysthesia of his left foot. On physical examination, he has bowing of his extremities with prominent bony masses on both legs, particularly near his knee, that have been present since birth (Figure). The patient’s father and sister have similar lesions. Complete blood cell count and differential are within normal limits. Plain radiograph and magnetic resonance imaging show multiple exostosis with the largest lesion arising from the posterior left tibia. There is no evidence of malignant transformation, although significant impingement on the posterior neurovascular bundle is seen.

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Author Affiliations: Drs Munoz (javier.munoz@me.com) and Guo are affiliated with the Department of Hematology and Oncology, Henry Ford Hospital, Detroit, Michigan.