Advances in Oral and Maxillofacial Surgery (Jul 2022)
Adult Langerhans cell histiocytosis with a rare BRAF V600E and V600D mutation, diagnosed through oral manifestations
Abstract
Langerhans cell histiocytosis, is a rare disorder characterized by an aberrant proliferation of Langerhans-type cells that infiltrates and replaces the involved tissues. Its occurrence is rare in adults.The present paper is a case of a 52 years old male patient who was referred to our department regarding painful and hemorrhagic ulcerations of the mandibular gingiva, non responding to periodontal therapy. Radiographic examination showed radiolucent images with a “Punched-out” appearance. A complete blood count did not reveal any particularities. A mucosal biopsy and immunohistochemical staining revealed an atypical cellular infiltrate of histiocytic appearance, evoking langerhans cell histiocytosis. NRAS-BRAF Mutation test showed V600E and V600D mutation, at the codon 600 of the BRAF gene.The primary treatment of surgical extraction and curettage showed excellent mucosal and bone healing. The patient is under a thorough oral and hematologic follow up.