Gorlin-Goltz Syndrome: A Case Report and Literature Review with PTCH1 Gene Sequencing.

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 ( PTCH1 ) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male who was admitted at our department for multiple brown-to-black papules and plaques on the entire body. He was diagnosed with Gorlin-Goltz syndrome with clinical, radiologic, and pathologic findings. While the diagnosis was made based on the clinical findings in general, confirmation of the genetic variants makes an ideal diagnosis and suggests a new treatment method for target therapy. We requested a genetic test of PTCH1 to ideally identify the molecular confirmation in the hedgehog signaling pathway. However, no pathogenic variants were found in the coding region of PTCH1, and no molecular confirmation was achieved.

Nasal airway function after Le Fort I osteotomy with maxillary impaction: A prospective study using the Nasal Obstruction Symptom Evaluation scale.

BACKGROUND: This study evaluated changes in nasal airway function following Le Fort I osteotomy with maxillary impaction according to the Nasal Obstruction Symptom Evaluation (NOSE) scale. METHODS: This cohort study included 13 patients who underwent Le Fort I osteotomy with maxillary impaction. Nasal airway function was evaluated based on the NOSE scale preoperatively and at 3 months postoperatively. The change in the NOSE score was calculated as the preoperative score minus the postoperative score. If the normality assumptions for changes in the NOSE score were not met, a nonparametric test (the Wilcoxon signed-rank test) was used. Differences in NOSE score changes according to patient characteristics and surgical factors were evaluated using the Kruskal-Wallis test and the Mann-Whitney test. RESULTS: Patients ranged in age from 18 to 29 years (mean±standard deviation [SD], 23.00±3.87 years). Three were men and 10 were women. Eleven patients (84%) had an acquired dentofacial deformity with skeletal class III malocclusion. The preoperative NOSE scores ranged from 40 to 90 (mean±SD, 68.92±16.68), and the postoperative NOSE scores ranged from 25 to 80 (53.84±18.83). The cohort as a whole showed significant improvement in nasal airway function following maxillary impaction (P=0.028). Eleven patients (84%) had either improved (n=8) or unchanged (n=3) postoperative NOSE scores. However, nasal airway function deteriorated in two patients. Patient characteristics and surgical factors were not correlated with preoperative or postoperative NOSE scores. CONCLUSIONS: Nasal airway function as evaluated using the NOSE scale improved after maxillary impaction.

Intraoperative blood loss and surgical time according to the direction of maxillary movement.

BACKGROUND: Excessive bleeding is one of the most severe complications of orthognathic surgery (OGS). This study investigated the associations of intraoperative blood loss and surgical time with the direction of maxillary movement. METHODS: This retrospective study involved patients who underwent OGS from October 2017 to February 2020. They were classified based on whether maxillary setback was performed into groups A1 and B1, respectively. Relative blood loss (RBL, %) was used as an indicator to compare intraoperative blood loss between the two groups. The surgical time of the two groups was also measured. Subsequently, the patients were reclassified based on whether posterior impaction of the maxilla was performed into groups A2 and B2, respectively. RBL and surgical time were measured in the two groups. Simple linear and multiple regression analyses were performed. P-values <0.05 were considered to indicate statistical significance. RESULTS: Eighteen patients were included. The RBL and surgical time for the groups were: A1, 13.15%±5.99% and 194.37±42.04 minutes; B1, 12.41%±1.89% and 196.50±46.07 minutes; A2, 13.94%±3.82% and 201.00±39.70 minutes; and B2, 9.61%±3.27% and 188.84±38.63 minutes, respectively. Only RBL showed a statistically significant difference between the two groups (A2 and B2, P=0.04). CONCLUSIONS: Unlike maxillary setback, posterior impaction of the maxilla showed a significant association with RBL during surgery. When performing posterior impaction of the maxilla, clinicians need to pay particular attention to surgery and postoperative care.

Intramuscular Hemangioma of the Pronator Quadratus Muscle of Forearm.

Intramuscular hemangioma is a rare type that has been reported in less than 0.8% of all hemangiomas. In particular, there are few reports of intramuscular hemangioma in the upper extremity. Authors describe the experience of complete excision of the hemangioma of the pronator quadratus muscle of the forearm with good functional recovery.

Orbital Floor Fracture.

The medial wall and floor of the bony orbit are frequently fractured because of the delicate anatomy. To optimize functional and aesthetic results, reconstructive surgeons should understand the anatomy and pathophysiology of orbital fractures. Appropriate treatment involves optimal timing of intervention, proper indications for operative repair, incision and dissection, release of herniated tissue, implant material and placement, and wound closure. The following review will discuss the management of orbital floor fractures, with the operative method preferred by the author. Special considerations in operation technique and the complication are also present in this article.

Analysis of the development of the nasal septum and measurement of the harvestable septal cartilage in koreans using three-dimensional facial bone computed tomography scanning.

BACKGROUND: The septal cartilage is the most useful donor site for autologous cartilage graft material in rhinoplasty. For successful nasal surgery, it is necessary to understand the developmental process of the nasal septum and to predict the amount of harvestable septal cartilage before surgery. METHODS: One hundred twenty-three Korean patients who underwent three-dimensional (3D) facial bone computed tomography (CT) were selected for evaluation of the midsagittal view of the nasal septum. Multiple parameters such as the area of each component of the nasal septum and the amount of harvestable septal cartilage were measured using Digimizer software. RESULTS: The area of the total nasal septum showed rapid growth until the teenage years, but thereafter no significant change throughout the lifetime. However, the development of the septal cartilage showed a gradual decline due to ossification changes with aging after puberty in spite of a lack of change in the total septal area. The area of harvestable septal cartilage in young adults was 549.84±151.26 mm(2) and decreased thereafter with age. CONCLUSIONS: A 3D facial bone CT scan can provide valuable information on the septal cartilage graft before rhinoplasty. Considering the developmental process of the septal cartilage identified in this study, septal surgery should not be performed until puberty due to the risk of nasal growth impairment. Furthermore, in elderly patients who show a decreased cartilage area due to ossification changes, septal cartilage harvesting should be performed carefully due to the risk of saddle nose deformity.

The usefulness of the endonasal incisional approach for the treatment of nasal bone fracture.

BACKGROUND: Among all facial fractures, nasal bone fractures are the most common, and they have been reduced by closed reduction (CR) for a long time. But several authors have reported suboptimal results when using CR, and the best method of nasal bone reduction is still being debated. We have found that indirect open reduction (IOR) through an endonasal incisional approach is a useful method for more accurate reduction of the nasal bone. METHODS: A retrospective chart review was performed of 356 patients who underwent reduction of a nasal bone fracture in our department from January, 2006, to July, 2011. We treated 263 patients with IOR. We assessed patients' and doctors' satisfaction with surgical outcomes after IOR or CR. We evaluated the frequency of nasal bleeding owing to mucosal injury, and followed the surgical outcomes of patients who had simultaneous dorsal augmentation rhinoplasty. RESULTS: According to the analysis of the satisfaction scores, both patients and doctors were significantly more satisfied in the IOR group than the CR group (P<0.05). Mucosal injury with nasal bleeding occurred much less in the IOR group (5.3%) than the CR group (12.9%). Dorsal augmentation rhinoplasty with IOR was performed simultaneously in 34 cases. Most of them (31/34) showed satisfaction with the outcomes. CONCLUSIONS: IOR enables surgeons to manipulate the bony fragment directly through the endonasal incisional approach. However, we propose that CR is the proper technique for patients under 16 and for those with comminuted nasal bone fractures because submucosal dissection in IOR can damage the growth or circulation of nasal bone.

A volumetric study of the corpus callosum in 20s and 40s Korean people.

The purpose of this study was to measure the average corpus callosum volume of normal Koreans (aged in their 20s or 40s) and to analyze the effects of gender, age, and body parameters, such as height and weight on corpus callosum size. Magnetic resonance brain images were recorded for 68 people in their 20s (29 men, 39 women) and 91 in their 40s (36 men, 55 women). Intracranial volume was calculated using cerebral size and corpus callosum volume was normalized by covariance method. To investigate the effect of gender and age on corpus callosum volume, two-way analysis of variance, which used gender (two levels) and age (two levels) as independent variables, was employed. Multiple regression analysis was carried out to investigate the effect of body parameters, such as height and weight, according to the age and gender on the changes in corpus callosum volume. The average corpus callosum volume of Korean men (11.09 cm(3)) was larger than that of Korean women (9.61 cm(3)). There was no significant difference in corpus callosum volume between 20s (10.43 cm(3)) and 40s (10.12 cm(3)). There was a positive relationship between body weight and corpus callosum volume for 20s, but not for 40s.