Kabuki syndrome is a rare congenital disease characterized by typical facial dysmorphic features, skeletal abnormalities, mental retardation, dermatoglyphic changes, and postnatal growth retardation. Oral symptoms include progenia, open bite, narrowed maxillary dentition, congenitally missing teeth and cleft palate. Calcifying epithelioma is reported as an extremely rare complication of Kabuki syndrome. We report our experience in treating a patient with Kabuki syndrome who had multiple calcified epitheliomas on the facial skin.
The patient was a 12-year-old girl referred to our hospital by a local dentist for a detailed examination of swelling of the buccal gingiva of the right upper first premolar. Panoramic X-ray and CT scans revealed an X-ray luminal area at the root apex of the right maxillary first premolar, and a total of four calcifications, two each on the left and right facial skin. An ultrasound examination was performed to check for calcifications on the facial skin, but no blood flow signals were observed in the check calcifications, and phleboliths were ruled out. Based on a clinical diagnosis of a radicular cyst in the right upper first premolar and multiple facial skin tumors, we performed the removal of the cyst and excisional biopsies of the tumors under general anesthesia. Histopathological examination revealed a diagnosis of radicular cyst and calcified epitheliomas. A genetic test was performed to help determine the treatment plan, and a mutation in the KMT2D gene was found. It has now been two years since the surgery, and no enlargement of the residual lesions or recurrence has been observed.
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