A rare presentation of Kabuki syndrome in a dental setting

Abstract

Introduction

Kabuki syndrome is a rare genetic disorder characterized by distinct facial features including long palpebral fissures, arched eyebrows, and other facial abnormalities. This syndrome causes developmental delay and intellectual disabilities along with growth retardation. Immune incompetence may be present with various clinical presentations. Often blood transfusion and/or immunoglobulin infusions are required. Management typically involves a multidisciplinary approach.

Case Summary

A 12-year-old male patient sought attention at Penn Oral Medicine for a lip lesion accompanied by swelling on the left side of the lower lip and pain at the tongue's tip. Originating around March 2021, the lesion exhibited self-limiting characteristics, albeit with intermittent recurrences unrelated to identifiable triggers. Mild sharp pain was noted, particularly accentuated during the consumption of crunchy foods. A review of systems and COVID-19 screening yielded negative results. During the initial examination, enlarged, tender, and mobile bilateral submandibular and submental lymph nodes were observed. Initially attributed to a traumatic origin, intraoral ulcers prompted a closer examination, revealing a previously undisclosed medical history. The patient, born with Kabuki syndrome associated with dextrocardia and rectal atresia, had undergone previous treatment in his home country. Under the care of pediatric specialists in the United States, a connection was established with the patient's medical provider to gather crucial information about his medical status, symptom history, and treatment. With evaluation of the patient's historical bloodwork, a pattern emerged, linking the ulcers appearance to his leukopenia, thrombocytopenia, neutropenia, and high eosinophilic count. The pediatric team, initially unaware of the ulceration incidents, validated the discovery. Subsequently, the patient was directed to pediatric care for a comprehensive blood workup to monitor his condition.

Conclusion

This case highlights the intricate interplay between oral manifestations and systemic health in Kabuki syndrome. Initially perceived as trauma-related, the ulcers' connection to the patient's leukopenia, thrombocytopenia, neutropenia, and high eosinophilic count emphasizes the importance of integrating oral findings with systemic considerations. Collaborative interdisciplinary efforts become paramount, underscoring the necessity for nuanced approaches tailored to the complexities of Kabuki syndrome and associated hematological patterns within the realm of Rare Genetic Diseases.