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Clinical Problem Solving: Pathology
June 20, 2011

Pathology Quiz Case 3: Diagnosis

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Arch Otolaryngol Head Neck Surg. 2011;137(6):640-641. doi:10.1001/archoto.2011.73-b

Pediatric laryngeal neurofibromas are typically found in the context of neurofibromatosis (NF), which is an inherited autosomal dominant condition that occurs in 2 distinct forms. Both types boast a high frequency of spontaneous mutations, such that only 50% of NF cases are linked with positive family histories.1Patients with NF type 1 (NF1) exhibit multiple cutaneous and subcutaneous neurofibromas situated along dermal nerves and peripheral neural plexus branches. Neurofibromatosis type 1 has been reported in 1 in 3000 to 4000 live births, making it one of the most common single gene mutation disorders.2Neurofibromatosis type 2 (NF2), in contrast, predominantly affects elements of the central nervous system, with affected patients developing vestibular schwannomas, gliomas, meningiomas, neurofibromas, and juvenile superior subcapsular lenticular opacity, among other lesions. The incidence of NF2 has been estimated to be far lower, at roughly 1 in 40 000 to 50 000 live births.3,4Patients with NF2 may develop these aforementioned tumors starting at an early age.

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