Oral mass revealing Chédiak-Higashi syndrome

This case report describes common oral inflammatory findings leading to the identification of Chédiak-Higashi syndrome (CHS). A 15-year-old girl presented with an enlarging and painful mass on the upper lip. Two weeks after the initial visit, the mass showed further protrusion in the absence of fever. Magnetic resonance imaging revealed a well-circumscribed cystic lesion with a thick capsule, and suggested an abscess derived from the mucous cyst in the upper lip. Inflammation indices were not elevated; however neutrophils were significantly lower than the normal level. Giant cytoplasmic granules in neutrophils, eosinophils, and lymphocytes, which are pathognomonic of CHS, were noted. The patient displayed brownish-red hair with some grey hair, and partial oculocutaneous albinism. Hepatosplenomegaly was evident on ultrasonography. The final diagnosis was of an oral infection facilitated by the adolescent form of CHS (gene CHS1/LYST at 1q42.1-2). This report offers a reminder that lip swelling may represent the initial manifestation of the inflammatory response in a patient with loss of immunocompetence due to pathologies such as CHS, and may rarely present as the patient's main complaint.