A 62-year-old man reported tingling and numbness in his hands over 8 months that had progressed to his wrists, and with hand weakness. Two years previously he had developed thickening of the skin on his face and blistering skin lesions on his hands. He also reported erectile dysfunction.
On examination, his facial skin was visibly thickened (figure 1). There was an ulcer overlying the second right proximal inter-phalangeal joint with the tendon exposed (figure 2) and multiple similar lesions on the hands. There was wasting of intrinsic hand muscles and extensor digitorum brevis. He had significant distal weakness in upper and lower limbs. Supinator and ankle reflexes were absent. Sensory examination showed absent pinprick and vibration sensation distally.
Nerve conduction studies identified a severe predominantly axonal sensorimotor neuropathy with distal demyelinating features (prolonged distal motor latencies, dispersion) and acute/subacute and chronic partial denervation on electromyography. Autonomic studies identified…