Regional Lymph Node Enlargement in Clinically Severe Cherubism

Abstract

Cherubism is a rare benign autosomal dominant disorder characterized by progressive, painless, bilateral enlargement of the mandible and/or maxilla because of bone replacement by fibrotic stromal cells and osteoclast-like cells forming multilocular cysts. The lesions typically stabilize and regress after puberty. We present a 14-year-old male with severe familial cherubism. Bilateral mandibular enlargement began around age 4 and progressed until puberty, affecting his speech and mastication without subsequent involution. Composite mandibulectomy and mandible reconstruction with fibula free flap technique improved functionality and cosmesis. Histology was consistent with the diagnosis of cherubism, showing large areas of bland spindle-cell fibrous tissue and moderately abundant collagen and multiple nodules of giant cell-rich tissue resembling central giant cell granuloma. Regional lymph nodes were sampled due to enlargement, demonstrating hemosiderin-laden macrophages and basophilic laminated concretions localized to the cortical interfollicular space and along the peripheral follicular marginal zone, findings which have not been previously reported.