Neurofibro matosis: Oral and radiographic manifestations

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.

E.N.T. manifestations of von recklinghausen’s disease

Changes in the facial skeleton in cases of neurofibromatosis

Pulsating exophthalmos associated with neurofibromatosis.

Multiple radiographic projections were employed to study osseous abnormalities of the skull in twenty cases of craniofacial neurofibromatosis. Calvarial defects in the lambdoid suture were observed in eight cases. Large midline defects produced a cranium bifidum appearance in one case. Mandibular changes consisted of hypoplasia with flattening of the external contour, thinning of the body and the ramus and widening of the medial and lateral coronoid spaces. Mandibular overgrowth with a convex outer contour and increase in the vertical height was seen in one case and a large cystic lesion around three unerrupted molar teeth was seen in another case. Abnormalities were also observed in the zygomatic arch and the mastoid process. The tympanic bone was absent in three cases. A 20 degree occipitomental projection best demonstrated these abnormalities. Orbital changes consisted of enlargement, outwardly curved innominate line, indistinct lower part of the innominate line, elevated lesser wing of the sphenoid, irregular enlargement or obliteration of the superior orbital fissure and intraorbital calcification. The pituitary fossa was enlarged in two cases without evidence of raised intracranial tension. Macrocranium was observed in one case. Functional disabilities observed in some cases were conductive deafness, loss of vision, cranial nerve palsies and mental retardation. Carotid angiograms done in three cases showed tortuous branches of the external carotid artery feeding the plexiform scalp lesions. A fourth ventricle tumour was seen on ventriculography in one case which presented with hemiplegia and cerebellar signs and symptoms. Skeletal abnormalities corresponded closely to the locations of soft tissue masses indicating developmental interdependance of neuroectodermal and mesodermal derivatives.

Craniofacial Neurofibromatosis: A Roentgen Profile

Neurofibromatosis affecting the jaws: report of case.

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Neurofibromatosis affecting the jaws: report of case.