Page 26 - GP Fall 2024

Kabuki Syndrome: A Case Report

Authors: Maria Madonna, DDS, Jessie Winfree, and Hongyi Wang

ABSTRACT Key Words: Kabuki Make-Up Syndrome, Skeletal anomalies can involve the spine
Introduction: Kabuki Syndrome is a rare he- Niikawa-Kuroki Syndrome, dental manage- and fingers. Structural anomalies include
reditary syndrome first described by Japanese ment ophthalmologic findings such as strabismus
researchers Kuroki and Niikawan. Kabuki and ptosis, cleft lip and/or palate, dental
1,2
Syndrome (KS) or Kabuki makeup syndrome Introduction: Kabuki make-up syndrome anomalies, and congenital heart defects. 10,11
(Niikawa-Kuroki Syndrome) is a multiple (KMS) was first described in 1981 by Functional differences can include hearing
congenital anomaly syndrome with intellec- Niikawa et al. and Kuroki et al. in two in- loss, feeding problems, endocrinologic ab-
1
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tual disability as an additional component. dependent studies involving unrelated chil- normalities, increased susceptibility to in-
dren at two Japanese centers in the Kanto
This rare genetic syndrome is thought to be fections, and autoimmune disorders or sei-
present from an autosomal dominant pat- area and Hokkaido. This syndrome is a rare zures. 4,12
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tern of inheritance with varying physical genetic disorder and, although its etiology
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manifestations. Because the first discovery is unclear, an autosomal dominant pattern Clinical Report: 17-year-old male present-
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of Kabuki Syndrome was in Japan, it was of inheritance with variable expression has ed for dental treatment. The patient’s chief
thought to be more common in the Japanese been suggested. In most cases, the patients complaint was, “I don’t like how my teeth
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population. An increasing number of KS do not present a family history of the syn- look.” He wanted to improve the esthetics
patients have been recognized in non-Japa- drome. of his maxillary teeth.
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nese children. However, since 1981, Kabu-
ki Syndrome has been found in a variety of KS is inherited in an autosomal dominant Medical History: The patient was diagnosed
ethnic cultures such as Mexican, Filipino, manner of KMT2D gene. The portion of with Kabuki Syndrome as an infant. He ex-
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Vietnamese, Arab, Chinese, and African. 4,5 KS caused by this gene variant is unknown. hibits the facial and physical appearance of
KDM6A-related KS is X-linked. Therefore, a Kabuki mask. The patient has a history of
Case Presentation: Patient K.S. presented
for an initial dental visit in 2015 and has males that inherit the gene will be affect- asthma but has not experienced an asthmat-
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been treated in the pediatric and orthodon- ed. Detection and analysis of KMT2D and ic episode since 2015. The patient carries a
tic clinics. In 2023, he was being treated in KDM6 genes may be a way of confirming rescue inhaler to his dental visits. The pa-
the undergraduate clinic for periodic routine the clinical diagnosis. 1,5,9 tient had a right eye strabismus, and surgical
care. Past medical history revealed a diag- correction was completed in 2015. He was
nosis of Kabuki Syndrome. After a thorough As a result of the variations in gene expres- also diagnosed with bicuspid aortic valve re-
clinical examination, a diagnosis of gener- sions, this syndrome has many different gurgitation with a mildly dilated aorta with
alized gingivitis was made, and a compre- spectra and severity of congenital anoma- no stenosis and trivial aortic regurgitation
hensive treatment plan was formulated to lies (Barbosa et al Dental Findings in Ka- in 2014. Pediatric cardiologist consultation
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address the esthetic concerns of the patient. buki Syndrome). KS should be suspected reports no limitations to dental treatment,
in patients demonstrating the five cardinal and prophylactic antibiotics for subacute
Conclusion: Kabuki Syndrome is a rare manifestations defined by Niikawa et al.
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genetic syndrome and is thought to present bacterial endocarditis are unnecessary. The
from an autosomal dominant inheritance The five cardinal signs include facial dys- patient is allergic to penicillin and multiple
pattern with varying physical manifesta- morphism, skeletal abnormalities, unusual anesthetic medications used for general an-
tions. Five cardinal manifestations are de- dermatoglyphic patterns, mild or moderate esthesia, including lidocaine, sevoflurane,
fined which affect multiple organs. 1,2,6 The intellectual impairment, and growth de- cephalosporins, and rocuronium. The aller-
most recognizable appearance of Kabuki ficiency. Facial features usually include gic reaction to these drugs is anaphylaxis.
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Syndrome is the patient’s unique facial fea- short columella and depressed nasal tip, Anaphylactic shock was observed when he
tures. The patients have long palpebral fis- large or cupped ears, long palpebral fissure was undergoing general anesthesia for a
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sures with eversions of the lateral one-third of the lateral third of the lower lid, and high- knee surgical procedure. Presently, the pa-
of lower eyelid, arched eyebrows, short col- ly arched eyebrows. 1,2,8 (Figure 1).
umella with depressed nasal tip, and prom- tient is being followed by geneticists at a
inent ears. However, dental abnormalities medical center to determine the relationship
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are seen in over 60% of patients with KS. between the allergic response and various
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The most common findings involve hy- other medications. He demonstrates a mild
podontia of the central and lateral incisors developmental delay and has delayed onset
and premolars. Skeletal and dental man- of puberty.
7,8
ifestations of KS can predispose a patient
to a small dental arch and malocclusion. Dental History: In 2015, the patient’s clini-
5,8
Dental health professionals familiar with cal exam revealed gross caries of the linguals
KS oral and craniofacial manifestations of #8 and #9 and those teeth were diagnosed
have been found in many different ethnic with dens invaginatus. The endodontic de-
groups since its discovery in 1981. Recog- partment was consulted, and indirect pulp
nition of the characteristics of this syndrome therapy was completed on #9. Tooth #8 ex-
can lead to an early dental diagnosis and the
establishment of treatment protocols. hibited deep lingual grooves and was treated
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Figure 1. Arched eyebrows (visible under with silver diamine fluoride (SDF), and then
the glass frame), long palpebral fissures, Fuji IX was placed over the lingual surface.
www.nysagd.org l Fall 2024 l GP 26 short columella, and depressed nasal tip.