Is it neurofibromatosis type 1, or one of these 4 conditions?
Consider these conditions in the differential diagnosis of a patient who presents with soft, pedunculated nodules:
- Segmental/mosaic NF1 occurs as a result of NF1 somatic gene mutation. Clinical manifestations (pigmentary changes, tumor growths, or both) are limited to one or more body segments.3 The extent of the body parts affected depends on the time of the mutation in embryonic development.
- Neurofibromatosis 2 (NF2) is an autosomal dominant disease affecting one in 25,000 individuals.2 The characteristic feature is bilateral vestibular schwannomas.4,5 Other clinical features include meningiomas, schwannomas, gliomas, neurofibromas, and posterior subcapsular lens opacity. Café-au-lait spots are less common in NF2 than in NF1; only about one-third of NF2 patients have them.6
- Schwannomatosis is a disease with multiple subcutaneous, peripheral nerve, and spinal schwannomas.4,5 Patients do not have the vestibular schwannomas or the ophthalmologic features of NF2.
- Lipomatosis is an autosomal dominant disease featuring multiple lipomas on the trunk, proximal thighs, and distal arms. Depending on the location, the lipomas can be tender to touch. Biopsy may be necessary to differentiate lipomas from neurofibromas and schwannomas.