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In its fullest expression, NF1 can manifest as thousands of neurofibromas in a patient, hence the appellation neurofibromatosis (Fig. 60.3). Several variants of neurofibromas are observed in NF1. Most commonly, proliferations of spindle cells occur within the dermis, leading to cutaneous neurofibromas (CNFs). CNFs are skin-colored to pink, tan or brown, polypoid or pedunculated nodules that are soft or slightly rubbery in texture and can range from a few millimeters to several centimeters in diameter. They invaginate easily into the skin with gentle external pressure, thereby exhibiting the pathognomonic ‘buttonhole’ sign. Although these soft nodules are usually asymptomatic (except for their appearance), they may become pruritic or, occasionally, irritated. CNFs can appear as early as 4-5 years of age but more typically develop around puberty, with occasional acceleration during pregnancy.
Arch Neurol. 1988;45:575–8.
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