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31 January 2017 : Case report  

Face Transplant in an Advanced Neurofibromatosis Type 1 Patient

Łukasz Krakowczyk1AE*, Adam Maciejewski1CD, Cezary Szymczyk1E, Krzysztof Oleś1B, Stanisław Półtorak1F

DOI: 10.12659/AOT.900617

Ann Transplant 2017; 22:53-57


BACKGROUND: The human face is a one-of-a-kind structure with unique morphology, complexity, and function, in which different subunits are not even similar to other parts of the body. Therefore, extended complex deficits of the face are usually difficult to reconstruct, and autologous tissue restoration is generally not able to give a satisfactory aesthetic and functional outcome. The main goal of face allotransplantation is to restore symmetry, contour, and appearance as well as function of the face, especially control of orbicularis oculi and oris muscle physiology. We present the case of a total face transplant in an advanced neurofibromatosis type 1 patient – the second face transplant in Poland.

CASE REPORT: The recipient was a 28-year-old female with neurofibromatosis type I limited to the head region. During 24 years she underwent more than 35 surgical procedures, but for the last 3 years a significant decrease of her functionality and appearance was observed, including serious problems with speech, eating, and vision. In December 2013 she was qualified for a face transplant procedure. When the donor was found, she was matched on several clinical and biochemical characteristics including negative T and B cell cross-matching. Similarly, the transplantation procedure was done using two connected operating rooms; in the first, the donor’s face was harvested, and in the second, the recipient’s face was prepared – the tumor mass was resected and vascular and nervous structures were prepared. Due to the extension and complexity of the potential defect, more than 75% of head soft tissues were harvested including both auriculae, left and right eyelids, and scalp down to the occipital lower line.

CONCLUSIONS: Our case showed that neurofibromatosis is a real indication for a face transplantation procedure. Also, the results of rehabilitation, quality of life, motor and sensory recovery, and physiological status were comparable, showing that face transplantation based on careful selection of recipients and procedure planning is a real alternative, allowing achievement of excellent results that are far away from the outcomes of conventional reconstructions.

Keywords: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Facial Transplantation, Genes, Neurofibromatosis 1

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Annals of Transplantation eISSN: 2329-0358
Annals of Transplantation eISSN: 2329-0358