Are You Confident of the Diagnosis? Solitary cafe-au-lait macules are benign lesions that are common in the general population (Figure 1, Figure 2). Multiple lesions are much less common and should raise suspicion for an associated underlying genetic syndrome, the most likely of which is neurofibromatosis type 1 (NF1). Figure 1. Isolated segmental cafe-au-lait macule…
Are You Confident of the Diagnosis? Schwannomas are benign tumors of the peripheral nerve sheath. Sporadic schwannomas occur as a single, isolated lesion. Multiple schwannomas are almost always a sign of an underlying genetic syndrome, most commonly neurofibromatosis type 2 (NF2) or schwannomatosis. They do not occur in NF1. Characteristic findings on physical examination Psammomatous…
Are You Confident of the Diagnosis? The neurofibromatoses refer to a group of disorders that share a propensity to develop benign tumors of the peripheral nerve sheath. The three well-defined forms of neurofibromatosis include: (1) neurofibromatosis type 1 (NF1); (2) neurofibromatosis type 2 (NF2); and (3) schwannomatosis. Each disorder has a distinct phenotype, but overlap…
Are You Confident of the Diagnosis? Neurofibromas are benign tumors of the peripheral nerve sheath. Neurofibromas present as slow-growing tumors. They typically appear after puberty. They are generally asymptomatic, but may become painful, irritated, or pruritic. Characteristic findings on physical examination Neurofibromas may be solitary (Figure 1, most common) or multiple (Figure 2). Multiple tumors…
