Fleshy Lesions on a 32-Year-Old Woman

Alyssa Abbey, MCMS, PA-C; Martin I. Newman, MD

Disclosures

November 11, 2014

Optic nerve tumors occur primarily in children younger than 5 years. The most common presenting symptom is asymmetric, noncorrectable visual loss, but subtle peripheral field defects, optic nerve pallor, color-discrimination difficulties, or proptosis may be present without visual acuity being affected. A slow-growing optic nerve glioma (ONG) may lead to vision problems in some older children and adolescents; these patients should be monitored for vision difficulties throughout childhood and adulthood.

In adults, a visually insignificant ONG may be detected incidentally on head imaging studies. Although Lisch nodules are usually not visible without use of a slit lamp, they may occasionally be seen with a direct or indirect ophthalmoscope, especially in individuals with light-colored irises. Choroidal abnormalities with a patchy appearance or retinal corkscrew vascular changes may also be noted on funduscopic examination.

Orthopedic manifestations are also commonly encountered. Congenital pseudarthrosis may be evident at birth; bowing of the tibia is the most typical presentation. Thinning and angulation of the long bones can occur throughout early childhood and adolescence, with prominence of the anterior tibia and progressive deformity; less commonly, bowing of the forearm can occur.

Scoliosis with or without kyphosis may become evident in childhood or adolescence; when this finding is present in children younger than 10 years, scoliosis is associated with a poor prognosis and is likely to progress rapidly. Scoliosis detected during adolescence should still be monitored clinically but is much less likely to require orthopedic intervention.

Sphenoid bone dysplasia is usually asymptomatic, but it can occasionally be associated with herniation through the bony defect. Other skeletal anomalies, such as fibrous dysplasia, subperiosteal bone cysts, or vertebral scalloping, can also be found.[2]

Rare complications of NF1 include renal artery stenosis and pheochromocytoma, either of which can present with hypertension.[3]

NF2 is a progressive genetic disorder that is present in one in every 33,000-40,000 births. Patients with NF2 (which results from an abnormality on chromosome 22) typically present with acoustic neuromas or vestibular schwannomas. In contrast to NF1, patients with NF2 do not typically have cognitive issues nor significant numbers of café au lait spots.

The clinical manifestations of NF2 include tinnitus, balance disorders, and progressive hearing loss. Affected patients may also have meningiomas, juvenile cataracts, or schwannomas of the dorsal roots of the spinal cord. The diagnosis of NF2 is typically based on the presence of bilateral acoustic neuromas or a unilateral acoustic neuroma in a first-degree relative with NF2.

Criteria have been modified to increase sensitivity and may also be fulfilled by having a first-degree relative with NF2 and any two of the following:

  • Meningioma

  • Schwannoma

  • Glioma

  • Neurofibroma

  • Posterior subcapsular lenticular opacities

The criteria may also be fulfilled by unilateral acoustic neuroma and any two of the following:

  • Meningioma

  • Schwannoma

  • Glioma

  • Neurofibroma

  • Posterior subcapsular lenticular opacities

Finally, the criteria may also be fulfilled by multiple meningiomas and unilateral acoustic neuroma or any two of schwannoma, glioma, or neurofibroma/cataract.[3]

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