Neurofibromatosis

Neurofibromatosis is a neurogenic tumors, arising from the neural sheath cells, are located along peripheral and cranial nerves. In children, neurofibromatosis presentation may be either solitary or multiple. Multiple neurofibromatosis is most familiar as von Recklinghausen disease. This syndrome of multiple neurofibromas, abnormal skin pigmentation, bone abnormalities, and multiple associated congenital anomalies is inherited in an autosomal dominant pattern with variable penetrance.

The incidence neurofibromatosis is 0.03% of live births. Half of children born with von Recklinghausen disease will be diagnosed at birth by characteristic patterns of pigmentation (cafe au lait spots), skin tumors, and associated anomalies.

Intracranial, abdominal, and thoracic location of tumors may delay diagnosis.

The natural history of the syndrome is one of slow progression in the size and number of tumors.

Although neurofibromatosis is initially benign, there is a significant risk for malignant transformation of 8% to 16%.

Plastic surgical involvement may be requested for neurofibromatosis; for tumors involving cranial nerves presenting with facial palsies; and in patients with cranio-orbital neurofibromatosis, in which orbital bone erosion and absence of portions of the sphenoid bone present significant challenges. Children may present with solitary lesions that may be cutaneous or subcutaneous in origin.

The patient with elephantiasis neuromatosa will develop severe distortion of the face that may include proptosis. These hanging pedunculated lesions require complete excision for prevention of progressive facial deformity. Because of the extensive nature of neurofibromatosis, multiple debulking procedures are more commonly performed.

Plexiform lesions arise from major nerve trunks and therefore tend to be deeply located within tissues. In patients with plexiform neurofibroma involving the craniofacial region, computed tomographic scan is essential because these tumors may spread extensively and cause gross deformity of the skeleton.