regarding the continuing need for multiple surgical corrections in most instances [28]. We have observed significant improvements in patients’ social interactions after surgery that have definitely outweighed a more conservative approach to defer intervention until postadolescent years. In addition, the preservation of vision is also an important factor since surgery can often help to reduce the amblyogenic influence on a patient’s visual development. The indication for a diagnostic biopsy may sometimes be an important consideration as well, requiring surgical intervention in certain clinical situations. Efforts to correct orbitofacial deformities are very challenging frombothfunctionalandaestheticperspectives.Regarding ptosis surgery, in particular, Jackson et al. stated [19]:

The most unsatisfactory part of the procedure is the ptosis correction. This frequently requires repeat surgery, and even after this, there may be incomplete lid elevation.

Indeed, most patients require multiple procedures to treat tumor progression, as well as repeat procedures for the mechanical type of ptosis caused by NF1. It is important to counsel patients and families of the strong possibility that multiple procedures may be required in any effort to approach a normal appearance through orbitofacial rehabilitation surgery.

The reality of tumor “recurrence,” specifically plexiform neurofibroma, is well documented. A 20-year review published by the neurofibromatosis clinic at the Children’s Hospital of Philadelphia reviewed 121 patients who had 302 procedures. The overall freedom from tumor progression was 54%. The main risk factors for progression were (1) tumors of the head/neck/face, (2) less-extensive progression, and (3) affected children less than10 years of age [38]. The risk of tumor progression, however, should not be considered a deterrent to surgical intervention when one weighs the overall psychological, aesthetic, and often functional benefits of orbitofacial rehabilitation for NF1 deformities.

Some authors have actually advocated the need for exenteration in part to prevent tumor progression but also to decrease the risk of malignant transformation [12, 32]. It is our belief, however, that this permanently disfiguring procedure can be avoided in almost all circumstances with acceptable results.

5.7.3 Periorbital Involvement

5.7.3.1The Upper Eyelid

The classic appearance of an upper eyelid S-shape deformity frequently occurs in NF1 patients with neurofibroma infiltration of the upper eyelid (Fig. 5.1). This can

involve any of the eyelid tissues from the dermis, orbicularis, levator complex, tarsus, and conjunctiva. Sometimes, the lid may become thickened and heavy with tumor, causing ptosis of the upper eyelid. The term bag of worms often used to describe plexiform neurofibromas is appropriate as these tumors can be readily palpated in the upper lid. They represent sheath abnormalities occurring in multiple nerve fibers in the upper eyelid tissues.

When approaching the management of NF1-induced ptosis in children, one must always be cognizant of the amblyogenic risk of ptosis as well as possible anisometropia from induced astigmatism. In our experience, we usually find an anterior approach for NF1-induced ptosis most useful because tumor debulking is most commonly required. In general, patients with moderate or better levator function have a good functional result with an anterior levator resection. With advancing age, as plexiform and diffuse neurofibromas grow, the anterior lid crease approach for ptosis repair can be extended to permit wedge resection and re-formation of the lateral canthal angle. A periosteal flap is often useful.

Frontalis suspension surgery is reserved for those patients with poor levator function (4 mm or worse). In patients under the age of 5, we prefer a silicone frontalis sling passed in a rhomboid fashion with two brow stab wounds (medial fixation of sling over a silicone sleeve). In patients older than 5 years, the ideal sling material is autogenous fascia lata.

5.7.3.2The Lower Eyelid and Midface

Some patients may present with an isolated mass of the lower eyelid with or without a known diagnosis of NF1. Figure 5.4 illustrates how a lower eyelid/upper midface mass may be removed through a subciliary incision with minimal morbidity. A patient in France underwent a lower and midface transplant for a massive plexiform neurofibroma. On 1-year follow-up, after two episodes of clinical rejection (at 1 month and at 2 months), the patient had acceptable sensory and motor innervation of the transplanted territory [27]. This treatment represents a potential new horizon for allotransplantation that certainly warrants further research. While most cases of adnexal deformity due to NF1 can be managed by lessdrastic measures, there may be a place for facial transplantation in the patient who has not had the benefit of early debulking and reconstruction, including subsequent follow-up procedures, and presents as an adult with extraordinarily gross deformities difficult to manage from both a functional and aesthetic perspective using more conventional techniques.