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Neurofibromatosis Type I

Neurofibromatosis Type I

During a routine physical examination, multiple, randomly distributed, flesh-colored nodules were noted on the trunk, arms, and face of a 62-year-old man. The lesions measured 0.5 to 1.0 cm and appeared slightly pedunculated. The patient had had the lesions since he was a teenager; they were not painful. He also had hypertension, for which he was taking lisinopril (20 mg once daily).

The suspected diagnosis of neurofibromatosis type I was confirmed by tissue biopsy, which showed nerve fibroblasts and Schwann cells.

Neurofibromatosis may occur sporadically or follow a familial distribution.1 The latter has autosomal dominant inheritance with 2 distinct subtypes. Type I, also known as von Recklinghausen disease, manifests as flesh-colored nodules (neurofibromas) randomly distributed throughout the body. The gene for type I is located on chromosome 17.

Type II manifests as axillary freckling and skin pigmentation disruptions (cafe au lait spots). It is associated with eighth cranial nerve tumors of multiple endocrine neoplasia. The gene for type II is located on chromosome 22.2

The following systemic complications have been associated with neurofibromatosis:
•Bone cysts.
•Mental retardation.
•Obstructive hydrocephalus.
•Peripheral sarcomas.3,4

The treatment of neurofibromatosis is generally limited to cosmetic repair of disfiguring lesions. Surgical resection of intracranial or intraspinal tumors should be considered only when patients are symptomatic. Treatment success is often limited by compromise of the patient’s nerve function.

Author’s note: This case is dedicated to my son, Nick Glavas.


1. Tierney LM Jr, McPhee SJ, Papadakis MA, eds. Current Medical Diagnosis and Treatment. 43rd ed. New York: Lange Medical Books/McGraw-Hill; 2004:970.
2. Yohay K. Neurofibromatosis types 1 and 2. Neurologist. 2006;12:86-93.
3. Ruggieri M, Huson SM. The neurofibromatoses. An overview. Ital J Neurol Sci. 1999;20:89-108.
4. Leung AK, Wong BE, Cho HY, Chan PY. Café au lait spots. Emerg Med. 1997;29:30-35.

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