One in a Million: A Case of Arm and Leg Pain and Deformity

A 38-year-old Hispanic woman with no known past medical or family history presented to the emergency department with severe, intractable left upper and lower extremity pain and inability to walk for 2 days. The woman reported a history of chronic, progressive left hand, arm, and leg deformity over the previous 2 years with episodic flares of severe pain. The woman had not reported any trauma or systemic symptoms. Physical exam revealed deformity and hypertrophy of the second and third digits of the left hand (Figure 1), the left elbow, left thigh, and lower aspect of her left leg without significant joint swelling, warmth or redness. She exhibited significantly limited and painful range of motion at the joints in the left upper and lower extremity. Plain radiographs were obtained (Figure 2).