A rare case of non-Langerhans cell histiocytosis/ Erdheim-Chester disease presenting as desquamative gingivitis and oral mucosal erythema

Abstract

Background Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by BRAFV600 E mutations in greater than 50% of patients; multisystemic involvement, such as skin (xanthelasma); heart (pericardial effusion); central nervous system (brain-stem lesions); and bone lesions. ECD has a distinct histopathology and immunochemistry profile, which is negative for CD1 a, S100, and Langerin. Craniofacial involvement has been reported in less than 10 cases and described as multiple, solitary, well-defined radiopaque/lucent lesions of the jaws. We report a case of ECD, which initially included desquamative gingivitis, mucosal erythema, and edema. Case Summary A 62-year-old white woman was referred by her local dentist to the Division of Oral Medicine and Dentistry, Brigham and Women's Hospital, in December 2017, with the chief complaint of mouth sensitivity. Her medical history was notable for a 7-year history of intermittent bone pain, nonpruritic, erythematous, papular rashes of the neck, extremities, and trunk, as well as gingival erythema. She was diagnosed with ECD by a hematologist–oncologist in December 2010 based, in part, on tibial biopsy and the presence of BRAFV600 E mutation. Her medications included prednisone 40 mg 4 times daily by mouth, Bactrim 4 times daily by mouth, subcutaneous MTX 27.5 mg weekly injection, and dabrafenib 150 mg every 12 hours. She reported having a 10-year history of intermittent sensitivity, redness, and swelling of the gingiva, without any known triggers or patterns. On oral examination, there was diffuse desquamation, erythema, and edema of the buccal and palatal gingivae, as well as erythema of the mid–hard palatal mucosa. Differential diagnoses were ECD, vesiculobullous disorders, and vasculitis. With the patient's consent, an incisional biopsy specimen was obtained, and histopathology revealed the presence of chronic inflammation and a scant histiocytic infiltrate. The patient was managed with topical clobetasol 0.05% via custom trays to the maxilla and the mandible; the patient reported a greater than 75% improvement in sensitivity score after 1 month of use. Five months later, she presented with 2 erythematous nodules (#12 and #19), which were consistent with pyogenic granulomas on excisional biopsy. Conclusions This is the first report of potential oral mucosal involvement of ECD, with the noted desquamative gingivitis and erythema as its oral presentation.