E.N.T. manifestations of Von Recklinghausen's disease

Von Recklinghausen's Disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. Case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "Elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade.