Proteus

A seven year old sits at the table, eyes down, playing half heartedly with the years old toys populating the clinic room. His father sits to his side, less nervous than confused, knowing only that something weird was happening. His son had been born with some physical alterations, a misformation here, a port-wine stain there. He had surgery to correct the damage as an infant, and the doctors had assured him that these things just happen. No reason to read into it.

As he grew, the port wine stain expanded. Beyond that, they started to notice his right arm was becoming substantially larger than his left. He began to overbalance, a seven year old with popeye's right hook, the difference unexpected enough to require a double take.

Before we walked in the door, the doctor had been worried about Proteus syndrome. A disease of widespread physical remodeling and tumor formation, Proteus syndrome drives your bones and soft tissue to grow in bizarre, abnormal fashions. They can be as simple as massive lumps, or enlargements, or as complicated as actually forming new structures, new and functionless appendages. We theorize this was the disease the Elephant Man had. She had been worried about that, out in the hall. A disfiguring and fatal disease, and one we can do nothing about.

When we walked in the door, her face brightened subtly. This boy had problems, but they weren't big problems. The enlarged arm and vascular port wine stains over his body read more of Klippel-Trenaunay-Weber syndrome (KTS), a disease of vascular malformations leading to the development of stains and unilateral limb enlargement. We run through the physical just to make sure, feeling for tumors and growths. He is unremarkable, save for the arm. I assemble a literature packet about KTS to hand to them, all the while wondering if I would ever actually see a case of Proteus, and wondering about my sanity for wanting to.