Thirty-five operations could not stop the tumour. A new face did.

Neurofibromatosis type 1 is a genetic condition that affects about one person in every 2,500 to 3,300. It is inherited in a dominant pattern, so one altered copy of the gene is enough to cause it. One of its features is the neurofibroma, a benign tumour that grows from the sheaths of nerves. Most are small lumps in the skin. The plexiform type is different: it grows along the branches of a nerve, infiltrating everything around it, and it can become enormous.

This woman’s disease was limited to her head, and a plexiform neurofibroma had spread diffusely through the upper, middle and lower parts of her face, distorting all of it. Over 24 years she had more than 35 operations to remove or reduce it. In the last three years before her transplant, her condition got markedly worse, with serious problems speaking, eating and seeing. The left side of her face was completely paralysed and the right side partly, probably because the tumour had infiltrated the ends of her facial nerves.

Conventional reconstruction moves a patient’s own tissue to rebuild what is missing. For a tumour that had invaded the whole face, there was nothing healthy left to rebuild from. Her surgeons at the Maria Skłodowska-Curie Institute cancer centre in Gliwice, Poland, considered her for a face transplant, and in June 2006 she was placed on the national transplant waiting list. She waited more than seven years.

FIG 1what was removed, what replaced itoriginal diagram

On 4 December 2013 a donor was found: a 19-year-old woman who had been declared brain dead after a car accident, with her heart still beating. She was matched to the recipient on several clinical and biochemical characteristics, and tests showed no antibodies in the recipient against the donor’s cells. The face was the first tissue taken from the donor, before her other organs.

The operation ran in two connected operating rooms. In one, the surgeons removed the donor’s face. In the other, they removed the tumour from the recipient: all the soft tissue of the upper, middle and lower face. They found both facial nerves where they leave the skull, below the ear, and prepared the arteries, veins and nerves that the new face would be connected to.

Removing a plexiform neurofibroma is notoriously bloody. In neurofibromatosis the walls of the blood vessels are themselves abnormal and fragile, and the tumour grows into the veins, so bleeding is hard to stop even with special instruments. She needed 27 units of red blood cells during the operation.

Because the tumour had taken so much, the graft was enormous: more than 75% of the soft tissue of the head, including both ears, both upper and lower eyelids, and the scalp down to the lower line of the back of the head. It was fed by the external carotid artery system on both sides and drained by the retromandibular and external jugular veins, and it carried its facial nerves and their branches, the mental nerves of the chin and the infraorbital nerves below the eyes.

In the recipient, the surgeons first joined the arteries and veins on both sides. When the clamps came off, the whole graft filled with blood. Then they joined the trunk of each facial nerve to the trunk on the same side, and the mental nerves. The infraorbital nerves could not be joined because they had been cut short at the bone. Finally they stitched the facial muscles, placed drains and closed in three layers. The whole procedure took 24 hours.

The donor was not left without a face. During the operation a coloured silicone mask was made to restore her appearance for her family.

She was given strong immunosuppression from the start: antithymocyte globulin for ten days, with tacrolimus, mycophenolate mofetil and high-dose methylprednisolone tapered over the first days, plus medicines to prevent cytomegalovirus infection and pneumocystis pneumonia. Biopsies of the skin and the lining of the mouth were taken on day 2, then weekly for two months, and less often after that, to watch for rejection.

On day 34 a biopsy showed a grade 2 rejection, and it was treated successfully with methylprednisolone. After that, no further signs of rejection were found in 34 months of follow-up.

Otherwise her recovery was uneventful: no problems with the joined vessels and normal wound healing. Her tracheostomy tube came out on day 8, and a week later she started eating by mouth. She saw her new face for the first time on day 9 and, the authors write, gradually came to accept it, with no psychiatric problems and no difficulty taking her medication. She went home in the fifth week.

Physiotherapy started on the third and fifth days after surgery, twice a day, with static and dynamic facial exercises.

Feeling came back fast. It began to return within about two months, and by nine weeks it was more than 90% on testing with fine nylon filaments. Movement was slower, because the joined facial nerves had to grow along the full length of the new face to reach its muscles. It began in the 16th week. By the end of the first year she could smile almost completely, move her lower lip and close her mouth to 75%.

The paper’s photographs show her before the operation, early after it, and a year later. They are not reproduced here because of the paper’s licence, but they can be seen in the original, and the difference is extraordinary.

Most face transplants have been done after burns, gunshot wounds and other injuries. This was the second face transplant in Poland, and the authors argue that it shows neurofibromatosis to be a real indication too. For a plexiform neurofibroma infiltrating a whole face, conventional surgery has little left to offer once it has been tried many times, and a transplant can replace in one operation what decades of debulking could not.

It brings three particular challenges, they note: removing a tumour that bleeds so much, recovering a face from a donor whose heart is still beating, and fitting such a large graft. Getting blood flowing through it is the most important step. Different teams use different vessels, and the authors found that joining both the facial and temporal artery systems was enough to supply almost the whole soft covering of the head.

The nerves decide how well the face works. The facial nerve moves the muscles, and the branches of the trigeminal nerve carry feeling, but the authors suggest that joining the facial nerves may help feeling return too, because the two nerve systems are interconnected in the face. That may explain why her sensation came back so well even though the infraorbital nerves could not be joined.

A woman with neurofibromatosis type 1 had a plexiform neurofibroma infiltrating her whole face, and after more than 35 operations over 24 years she had serious problems speaking, eating and seeing, with half of her face paralysed. After seven years on the waiting list, at 28, she received the face, ears, eyelids and scalp of a 19-year-old donor in a 24-hour operation that needed 27 units of blood. A rejection on day 34 was treated, she saw her new face on day 9, went home in week 5, regained over 90% of her feeling within about nine weeks, and could smile and close her mouth a year later. When a benign tumour has taken a whole face, replacing the face can succeed where repeated surgery could not.