Kensuke Matsune

Craniofacial and dental characteristics of Kabuki syndrome

We describe oral manifestations in six patients (three females and three males aged 6 to 24 years) with Kabuki syndrome (KS), based on their physical, orthopantomographic, and cephalometric findings. All six patients had a high-arched palate, malocclusion, most commonly unilateral posterior cross-bite (5/6), severe maxillary recession and mid-facial hypoplasia. Other frequently observed oral manifestations included small dental arch and hypodontia. Three patients lacked permanent teeth, mostly the central/lateral incisors. Both tooth size (in primary and permanent teeth) and dental arch (in length and width) tended to be small. We would like to stress that oral care and management is a must for the well-being of KS patients.

Craniofacial and oral features of Sotos syndrome: Differences in patients with submicroscopic deletion and mutation of NSD1 gene

Sotos syndrome is a well‐known overgrowth syndrome caused by haploinsufficiency of NSD1 gene located at 5q35. There are two types of mutations that cause NSD1 haploinsufficiency: mutations within the NSD1 gene (mutation type) and a 5q35 submicroscopic deletion encompassing the entire NSD1 gene (deletion type). We investigated detailed craniofacial, dental, and oral findings in five patients with deletion type, and three patients with mutation type Sotos syndrome. All eight patients had a high palate, excessive tooth wear, crowding, and all but one patient had hypodontia and deep bite. Hypodontia was exclusively observed in the second premolars, and there were no differences between the deletion and mutation types in the number of missing teeth. Another feature frequently seen in common with both types was maxillary recession. Findings seen more frequently and more pronounced in deletion‐type than in mutation‐type included mandibular recession, scissors or posterior cross bite, and small dental arch with labioclination of the maxillary central incisors. It is noteworthy that although either scissors bite or cross bite was present in all of the deletion‐type patients, neither of these was observed in mutation‐type patients. Other features seen in a few patients include enamel hypoplasia (two deletion patients), and ectopic tooth eruption (one deletion and one mutation patients). Our study suggests that Sotos syndrome patients should be observed closely for possible dental and oral complications especially for malocculusion in the deletion‐type patients.

Fused teeth, macrodontia and increased caries are characteristic features of neurofibromatosis type 1 patients with NF1 gene microdeletion.

Neurofibromatosis type 1 (NF1) is the most common genetic condition caused by NF1 gene alteration. A 1.5 Mb submicroscopic deletion encompassing the entire NF1 gene, is known to be responsible for approximately 5% of NF1 cases. Patients with NF1 deletion, compared to those with NF1 mutation tend to exhibit more severe phenotypes. To know the possible differences in oral/dental features between NF1 deletion and NF1 mutation patients, we examined four patients with NF1 deletion and three with NF1 mutation to compare their oral manifestations. Fused teeth in the mandibular anterior region were found only in the patients with deletion (2/4). Macrodontia was noted in all four patients with an NF1 deletion. Although macrodontia was also found in one patient with a mutation, it was relatively mild compared to the deletion patients. Dental caries were observed in both NF1 deletion (4/4) and mutation (2/3) patients. However, patients with NF1 deletions showed more apparently severe caries (average number of dental caries 12.8) than those with NF1 mutation (average number 5.5). Other features also noted in patients with both deletions and mutations were high-arched palate, hypodontia and malocclusion. Our study might suggest that fused teeth, macrodontia and increased dental caries are distinctive manifestations of NF1 deletion. Providing comprehensive dental care from early infancy would be very important to prevent dental caries especially in patients with NF1 deletion.

The relationship between Kuchofuku® and body temperature in X-linked anhidrotic ectodermal dysplasia

Abstract X-linked anhidrotic (hidrotic) ectodermal dysplasia (EDA) is characterized by absence or the deficient functions of hair, teeth and sweat glands. The temperature adjustment of EDA is difficult in the state of the high temperature. We investigated whether this air-conditioning clothing (Kuchofuku ® ) was effective to the patient with EDA. It was revealed that the patients body surface and deep body temperatures rose in spite of gentle exercise without air-conditioning clothing, and that when they used it, although their deep body temperature slightly rose during exercise, their body surface temperature did not rise. It also suggested that, not only patients with EDA, but also the people who have trouble in perspiration can widen their sphere of daily activities by using it.

Effects of sintered apatite on bone regeneration in rabbits

Abstract Apatite is considered to be effective for bone regeneration when it contains calcium carbonate and β -TCP. In the present study, we made 3 different apatite preparations, hydroxyapatite, hydroxyapatite containing calcium carbonate, and hydroxyapatite containing β -TCP, using spark plasma sintering and compared their abilities for osteoinduction. For elucidation of bone regeneration, evaluations are generally made after euthanasia of experimental animals. However, the present R_mCT ® procedure allowed such evaluations while the animals were alive. Our results showed that sintered HAP containing β -TCP was more effective for guided bone regeneration than the other test materials.