Incidence: 1/3000-3500 births

Sx:Onset by age 5 yr, variable depending on site of lesions

Si:

Café-au-lait spots (90%); 6 spots, >1.5 cm in adults, or >0.5 cm in prepubertal patients (Peds 1992;90:924; J Peds 1990;116:845); axillary or inguinal or inguinal "freckles" (Crowe sign) are the same thing; "coast of California" smooth edges unlike "coast of Maine" edges of Albright's syndrome(bone cysts and fibrous dysplasia, precocious puberty) (rx'd with testolactone—Nejm 1986;315:1115)

Neurofibromas: soft skin nodules; plexiform neurofibromas are subcutaneous nodules along nerve course; also present internally, especially in bone and CNS

Lisch nodules, dome-shaped pigmented hamartomas on iris; present in 100% by age 20 yr (Nejm 1991;324:1264)

Variable

• Pheochromocytomas (in <1%; 10% of pheos have neurofibromatosis)
• Renal artery stenosis and hypertension
• Bony, especially vertebral, and joint complaints
• Optic pathway gliomas
• CNS lesions, some cause retardation; mass effect, especially at foramen magnum; lesions of 8th cranial nerve often, also of 5th and 11th. But acoustic neuromas are from central type II neurofibromatosis, a distinct and separate genetic abnormality (Cerebellar-Pontine Angle Tumors)
• Sarcomatous degeneration into neurofibrosarcomas in 5-10% (Nejm 1967;277:1363)
• Spinal nerve compression at neural foramina especially in chest
• Pulmonary
• Chronic myelogenous leukemia in children (Nejm 1997;336:1713)

Rx:

Monitor for cmplc's

Surgical excision of individual neurofibromas