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.

Staged lower lip reconstruction following gangrenous stomatitis in an immunosuppressed patient.

A 70-year-old male with a history of diabetes mellitus, hypertension, and coronary stent insertion visited our hospital 7 days after biting his lower lip. Swelling and inflammation had worsened despite debridement and antibiotic treatment. On the 8th hospital day, fungal infection with Candida albicans and superimposed bacterial infection with Klebsiella pneumoniae were found on tissue culture. Extensive necrosis resulted in a defect of approximately 3/4 of the entire lower lip and a full-layer skin defect from the vermilion to the gingivobuccal sulcus at the right corner of the mouth. To correct drooling, incomplete lip sealing, and trismus, staged reconstruction was performed with consideration of cosmetic and functional features. The treatment process using staged reconstruction and antifungal treatment for an extensive lower lip defect caused by fungal stomatitis is described.

Reconstruction of a Traumatic Cleft Earlobe Using a Combination of the Inverted V-Shaped Excision Technique and Vertical Mattress Suture Method.

Traumatic cleft earlobes are a common problem encountered by plastic and reconstructive surgeons. Various techniques have been reported for the repair of traumatic cleft earlobes. Usually, the techniques of split earlobe repair are divided into two categories, namely straight- and broken-line repairs. Straight-line repair is simple and easy, but scar contracture frequently results in notching of the inferior border of the lobule. It can be avoided by the broken-line repair such as Z-plasty, L-plasty, or a V-shaped flap. Between April 2016 and February 2017, six patients who presented with traumatic cleft earlobe underwent surgical correction using a combination of the inverted V-shaped excision technique and vertical mattress suture method. All the patients were female and had a unilateral complete cleft earlobe. No postoperative notching of the inferior border the lobule occurred during 6-16 months of follow-up. Without the use of a broken-line repair, both the patients and the operators attained aesthetically satisfactory results. Therefore, the combination of the inverted V-shaped excision technique and vertical mattress suture method is considered useful in the treatment of traumatic cleft earlobes.

Use of Triamcinolone Acetonide to Treat Lower Eyelid Malposition after the Subciliary Approach.

BACKGROUND: The subciliary approach is commonly used for reconstruction of orbital wall or zygomaticomaxillary fractures. However, this approach is associated with postoperative complications, especially lower eyelid malposition. We report the experience of managing postoperative lower eyelid malposition with triamcinolone acetonide. METHODS: A retrospective review was performed for all traumatic facial fractures requiring surgery via the subciliary approach at Chosun University Hospital in 2014. For each patient meeting inclusion criteria, the medical chart was reviewed for demographic information and postoperative course, including the presence of postoperative eyelid malposition or scleral show. RESULTS: The review identified 189 cases in which the subciliary approach was used, and postoperative lower eyelid malposition was found in 7 cases (3.7%). For these 7 patients, the mean therapeutic period (interval to correction of the malposition) was 10.5 weeks (range, 8 to 14 weeks). On average, patients received 3 injections of triamcinolone. In all cases, degrees of the malposition were improved, and none of the patients required an operative intervention to correct the malposition. CONCLUSION: Triamcinolone injection is an appropriate treatment modality for lower eyelid malposition after subciliary approach. Treatment duration is relatively short, requiring fewer than 4 outpatient clinic visits, with relatively earlier recovery compared to conservative "wait-and-see" management.

The estimation of postoperative bleeding after reduction of blowout fracture: the effectiveness of negative-pressure drainage system.

BACKGROUND: Retrobulbar hemorrhage is a rare complication of midface injury, blepharoplasty, facial fracture surgery, periorbital surgery, and circumbulbar anesthesia. The incidence of postoperative retrobulbar hemorrhage is 0.3% to 4% after the reduction of facial bone fracture. The purpose of this study was to estimate the postoperative bleeding after the reduction of a blowout fracture and to demonstrate the effectiveness of a negative-pressure drainage system with a scalp vein set tube. METHODS: From January 2006 to July 2013, we handled a total of 1491 cases of blowout fractures. Two of them (0.13%) were diagnosed as retrobulbar hematoma in 2011. After experiencing 2 cases of retrobulbar hematoma, we have been routinely using a scalp vein set tube as a negative-pressure drainage system to check the postoperative blood volume. RESULTS: From January 2012 to July 2013, a total of 131 patients underwent blowout fracture repair and experienced application of a negative-pressure drainage system. Their mean total drained amount was 12.6 mL; maximum amount was 47.5 mL in the 2 days after the surgery. The maximum drained amount was 41.7 mL on the day of the surgery. All the patients had no cardinal signs or symptoms of retrobulbar hematoma and no complications. CONCLUSIONS: Retrobulbar hematoma is a rare but critical surgical complication that leads to permanent visual loss. Considering the limited orbital cavity and postoperative edema, the volume of postoperative bleeding is thought to be enough to compress the optic nerve if the blood is not drained. Thus, we recommended a simple negative-pressure drainage system to prevent retrobulbar hematoma.

Complex Correction of Complete Cleft Lip with Severe Prominent Premaxilla using Lip Adhesion and Nasoalveolar Molding Device.

Nasoalveolar molding (NAM) device is an effective treatment for protruding maxilla in infants with cleft palate. However, only a few studies have investigated the effect of NAM devices on the treatment of protruding maxilla in infants with cleft lip only. We have designed a combination treatment using NAM devices prior to cheiloplasy for cleft lip-only patients with severe anterior protrusion of the premaxilla. Three cleft lip-only infants with 1-cm or more of premaxilla protrusion were included. Definitive cheiloplasty was performed at 6 months of age without any preoperative correction in infant 1. Cheiloplasty was performed in conjunction with the use of NAM device and lip adhesion in infants 2 and 3. Postoperative columella length and anterior-posterior dimension of the protruding premaxilla were compared amongst the infants. We were able to obtain satisfactory postoperative columella length and general nasal appearance.

Direct Open Venous Drainage: An Alternative Choice for Flap Congestion Salvage.

In this report, we present a scalp defect reconstruction with lateral arm free flap. We highlight the difficulty in obtaining a recipient vein and the venous drainage managed through an open end of the donor vein. A 52-year-old woman presented with a pressure sore on the left scalp. A lateral arm free flap was transferred to cover this 8×6 cm defect. The arterial anastomosis was successful, but no recipient vein could be identified within the wound bed. Instead, we used a donor venous end for the direct open venous drainage. In order to keep this exposed venous end patent, we applied heparin-soaked gauze dressing to the wound. Also, the vein end was mechanically dilated and irrigated with heparin solution at two hour intervals. Along with fluid management and blood transfusion, this management was continued for the five days after the operation. The flap survived well without any complication. Through this case, we were able to demonstrate that venous congestion can be avoided by drainage of the venous blood through an open vessel without the use of leeches.

Clinical Follow-up on Sagittal Fracture at the Temporal Root of the Zygomatic Arch: Does It Need Open Reduction?

BACKGROUND: The zygoma is a major portion of the midfacial contour. When deformity occurs in this area, a reduction should be conducted to correct it. If a sagittal fracture at the temporal root of the zygomatic arch occurs, this also requires reduction, but it is difficult to approach due to its anatomical location, and the possibility of fixation is also limited. Thus, the authors attempted the reduction of sagittal fracture by two- or three-point fixation and the Gillies approach without direct manipulation. The preoperative and postoperative results of the patients were evaluated. Follow-up was performed to establish a treatment guideline. METHODS: A retrospective study was done with 40 patients who had sagittal fractures at the temporal root of the zygomatic arch from March 2009 to June 2012. Only two- or three-point fixation was performed for the accompanying zygomatic-orbital-maxillary fracture. The Gillies approach was used for complex fractures of the zygomatic arch, while the temporal root of the zygomatic arch was only observed without reduction. Preoperative and postoperative computed tomography and X-ray scans were performed to examine the results. RESULTS: The result of the paired t-test on preoperative and postoperative bone gap differences, the depression level, and the degree of temporal protrusion showed a marked decrease in the mean difference at a 95% confidence interval. The results were acceptable. CONCLUSIONS: In the treatment of sagittal fractures at the temporal root of the zygomatic arch, it is acceptable to use indirect reduction and non-fixation methods. This leads to a satisfactory aesthetic and functional outcome.

Retrobulbar hematoma in blow-out fracture after open reduction.

Retrobulbar hemorrhage, especially when associated with visual loss, is a rare but significant complication after facial bone reconstruction. In this article, two cases of retrobulbar hematoma after surgical repair of blow-out fracture are reported. In one patient, permanent loss of vision was involved, but with the other patient, we were able to prevent this by performing immediate decompression after definite diagnosis. We present our clinical experience with regard to the treatment process and method for prevention of retrobulbar hematoma using a scalp vein set tube and a negative pressure drainage system.

Surgical correction of whistle deformity using cross-muscle flap in secondary cleft lip.

BACKGROUND: The whistle deformity is one of the common sequelae of secondary cleft lip deformities. Santos reported using a crossed-denuded flap for primary cleft lip repair to prevent a vermilion notching. The authors modified this technique to correct the whistle deformity, calling their version the cross-muscle flap. METHODS: From May 2005 to January 2011, 14 secondary unilateral cleft lip patients were treated. All suffered from a whistle deformity, which is characterized by the deficiency of the central tubercle, notching in the upper lip, and bulging on the lateral segment. The mean age of the patients was 13.8 years and the mean follow-up period was 21.8 weeks. After elevation from the lateral vermilion and medial tubercle, two muscle flaps were crossed and turned over. The authors measured the three vertical heights and compared the two height ratios before and after surgery for evaluation of the postoperative results. RESULTS: None of the patients had any notable complications and the whistle deformity was corrected in all cases. The vertical height ratios at the midline on the upper lip and the affected Cupid's bow point were increased (P<0.05). The motion of the upper lip was acceptable. CONCLUSIONS: A cross muscle flap is simple and it leaves a minimal scar on the lip. We were able to reconstruct the whistle deformity in secondary unilateral cleft lip patients with a single state procedure using a cross-muscle flap.

Effects of roxithromycin on the pharmacokinetics of loratadine after oral and intravenous administration of loratadine in rats.

The present study aimed to investigate the effect of roxithromycin on the oral and intravenous pharmacokinetics of loratadine in rats. The pharmacokinetic parameters ofloratadine were measured after an orally (4 mg/kg) and intravenously (1 mg/kg) administration of loratadine in the presence or absence of roxithromycin (2.0 or 5.0 mg/kg). Compared with the control (given loratadine alone), the area under the plasma concentration-time curve (AUC) was significantly (2.0 mg/kg, P < 0.05; 5.0 mg/kg, P < 0.01) increased by (76.8-119.2)% in the presence of roxithromycin after oral administration of loratadine. The peak plasma concentration (Cmax) was significantly (2.0 mg/kg, P < 0.05; 5.0 mg/kg, P < 0.01) increased by (45.1-97.6)% in the presence of roxithromycin after oral administration of loratadine. Consequently, the relative bioavailability (R.B.) of loratadine was increased by 1.77- to 2.19-fold. In contrast, roxithromycin had no effect on any pharmacokinetic parameters of loratadine given intravenously. It suggested that roxithromycin may improve the oral bioavailability of loratadine by reducing first-pass metabolism of loratadine most likely mediated by P-glycoprotein (P-gp) and/or cytochrome P450 (CYP) 3A4 in the intestine and/or liver. In conclusion, the presence of roxithromycin significantly enhanced the bioavailability of loratadine in rats, it may be due to inhibition of both CYP 3A4-mediated metabolism and P-gp in the intestine and/or liver by the presence of roxithromycin.

Endoscopic transnasal approach for the treatment of medial orbital blow-out fracture: a technique for controlling the fractured wall with a balloon catheter and Merocel.

The authors repaired a medial blow-out fracture by using an endoscopic transnasal technique with a balloon catheter and Merocel packing in 17 subjects. The follow-up periods were from 6 weeks to 2 years, and averaged 6 months. The length of the operation was 50 minutes on average. The enophthalmos was corrected in seven of the eight patients. Supporting material for the fractured medial orbital wall was kept in place for 1 to 3 weeks. The mean volume of balloon inflation was 2 cc. The result was satisfactory. No complications resulted from the transnasal endoscopic technique. This endoscopic transnasal approach allows for a better aesthetic result because it eliminates external scarring and permits a direct approach to the medial orbital wall and has a superior visualization. A balloon catheter was used to support the fractured medial orbital fracture, which was adapted, ballooned, and then visualized using a radiopaque dye (Visipaque) in 11 cases. A postoperative computed tomographic scan revealed that this is a very useful method for controlling the status of the reduced orbital wall and eliminates the possibility of complications resulting from infection. A resected uncinate process was used as a bone graft material to repair the large defect in five cases. This method provides several advantages including a mucoperiosteal attached bone graft, working in the same operative field, and cost-effective surgical time. A transnasal endoscopic technique for medial orbital fracture is also very useful for releasing entrapment of the medial rectus muscle, because it directly pushes against the fractured wall and gives good exposure of the medial orbital wall.