The Neoplastic Whorls-Soft Tissue Perineurioma

Perineurioma is an exceptional, benign neoplasm entirely composed of neoplastic perineurial cells and arises from the peripheral nerve. Pertaining to location, the neoplasm predominantly demonstrates configurations such as intra-neural or extra-neural, confined to the soft tissue. Perineurioma was initially scripted by Lazarus and Trombetta in 1978 and is additionally nomenclated as localized hypertrophic neuropathy1. Extra-neural soft tissue perineurioma and mucosal (intestinal) perineurioma are frequent, in contrast to intra-neural perineurioma or localized hypertrophic neuropathy subtype1, 2.

Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy

Localized hypertrophic neuropathy is a rare Schwann cell proliferation that usually affects single nerves from the extremities, and it is of unclear etiology in its pure form. RASopathies are a defined group of genetic diseases with overlapping clinical features, usually secondary to germline mutations in genes encoding either components or regulators of the RAS/MAPK pathway. Herein, we report an 11-year-old boy presenting with café au lait spots and right leg length discrepancy. A fascicular nerve biopsy of the tibial nerve demonstrated a Schwann cell proliferation with prominent onion-bulb formation, satisfying criteria for localized hypertrophic neuropathy. Molecular genetic analysis demonstrated identical KRAS mutations (c38_40dupGCG) in the peripheral nerve lesion and melanocytes from café au lait spots, but not in blood, supporting a diagnosis of a KRAS-mediated rasopathy with mosaicism. Immunohistochemical staining in the peripheral nerve lesion demonstrated strong pERK staining consistent with downstream MAPK pathway activation. This report suggests that at least a subset of localized hypertrophic neuropathies are bonafide, well-differentiated Schwann cell neoplasms developing through oncogenic RAS signaling, which provides new insights into the controversial entity historically known as localized hypertrophic neuropathy.

Hypertrophic Neuropathy of the Facial Nerve

Hypertrophic neuropathy is a peripheral nerve lesion that is histologically characterized by onion bulb formations around axons. This histologic picture, which is usually seen in generalized hypertrophic neuropathies, can occasionally be observed in single nerves as localized hypertrophic neuropathy. Cranial involvement of such localized hypertrophic neuropathy represents a very rare entity; only a few cases have been reported in the literature. We report the history of a progressive facial paralysis with a tumorous enlargement of the seventh cranial nerve that was clinically suspected of being a schwannoma. Pathological examination permitted the diagnosis of hypertrophic neuropathy.