Orofacial granulomatosis as an uncommon presentation of common variable immunodeficiency (CVID)

Orofacial granulomatosis (OFG) is a condition characterized by non-caseating granulomas in the orofacial region, in the absence of identifiable causes like Chron's disease or sarcoidosis. Its clinical symptoms include swelling of the lips or face, mucosal nodularity, mucosal tags, hyperplasia of the gingivae and aphthous oral ulcers. This study reports a rare case of CVID who presented firstly with OFG features. Case details: A Caucasian 39-year-old female previously healthy was referred presenting maxillary gingival enlargement, facial swelling and angular cheilitis. An incisional intraoral biopsy revealed dilated lymphatics, edema of corium, slight fibrosis, multiple noncaseating granulomas with Langerhans giant cell and lymphocytes. Investigation to exclude gastrointestinal involvement were done and resulted negative. An accurate workout revealed a reduction of immunoglobulins, anomalies of B cell population and an impaired response to various antigens, and led to the diagnosis CVID. Case discussion: In approximately 5-10% of patients with CVID, sarcoid-like granulomatous lesions have been described, founding non-caseating epitheloid granulomas in the liver, spleen, lung, lymph nodes, bone marrow, skin and conjunctivae. To the best of our knowledge, this is the first case ever reported of orofacial granulomatosis' features occurring, as first manifestation, in CVID.