Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. Despite an apparent autosomal-dominant pattern of inheritance, the genetic background of SMS and information about its phenotypic heterogeneity remain unknown. Recently, we found a family affected by glaucoma, aortic calcification, and skeletal abnormalities. Unlike subjects with classic SMS, affected individuals showed normal dentition, suggesting atypical SMS. To identify genetic causes of the disease, we performed exome sequencing in this family and identified a variant (c.1118A>C [p.Glu373Ala]) of DDX58, whose protein product is also known as RIG-I. Further analysis of DDX58 in 100 individuals with congenital glaucoma identified another variant (c.803G>T [p.Cys268Phe]) in a family who harbored neither dental anomalies nor aortic calcification but who suffered from glaucoma and skeletal abnormalities. Cys268 and Glu373 residues of DDX58 belong to ATP-binding motifs I and II, respectively, and these residues are predicted to be located closer to the ADP and RNA molecules than other nonpathogenic missense variants by protein structure analysis. Functional assays revealed that DDX58 alterations confer constitutive activation and thus lead to increased interferon (IFN) activity and IFN-stimulated gene expression. In addition, when we transduced primary human trabecular meshwork cells with c.803G>T (p.Cys268Phe) and c.1118A>C (p.Glu373Ala) mutants, cytopathic effects and a significant decrease in cell number were observed. Taken together, our results demonstrate that DDX58 mutations cause atypical SMS manifesting with variable expression of glaucoma, aortic calcification, and skeletal abnormalities without dental anomalies.

Surgical treatment of masseteric venous malformations and outcomes.

Intramuscular venous malformations are often misdiagnosed as other types of tumors with similar presentations. We describe here the typical presentation of a venous malformation within the masseter muscle, including the physical findings and imaging, and present our experience with the surgical excision of these lesions. This is a review of 10 patients with venous malformations localized to the masseter muscle who presented to our institution between 2008 and 2011. The patients included 6 females and 4 males. Of these venous malformations, 80% were noted in childhood, and the remainder manifested later in adolescence. Pain, swelling, and facial asymmetry were the presenting complaints. Magnetic resonance imaging, Doppler ultrasonography, and whole-body blood scintigraphy were used to characterize the lesions. All patients were treated by total resection of the lesion while preserving the marginal mandibular branch of the facial nerve. Magnetic resonance imaging showed the lesions to be isointense with surrounding muscle on T1-weighted images and hyperintense on T2-weighted images. Gross examination of the resected specimens revealed multicolored tissue with dilated vascular channels, frequently containing phleboliths. After the operation, all patients showed improvement in both symptoms and appearance. This improvement was sustained at a mean follow-up of 21 months. Masseteric venous malformations typically present with a pattern of clinical and imaging findings that should allow surgeons to distinguish them from other diseases in the cheek area. Complete surgical excision is a treatment option for these patients and can be performed without facial nerve injury or excessive bleeding. This procedure can result in excellent outcomes for localized intramasseteric venous malformation.

Aesthetic refinement of secondary cranioplasty using methyl methacrylate bone cements.

BACKGROUND: Cranioplasty using alternate alloplastic bone substitutes instead of autologous bone grafting is inevitable in the clinical field. The authors present their experiences with cranial reshaping using methyl methacrylate (MMA) and describe technical tips that are keys to a successful procedure. METHODS: A retrospective chart review of patients who underwent cranioplasty with MMA between April 2007 and July 2010 was performed. For 20 patients, MMA was used for cranioplasty after craniofacial trauma (n = 16), tumor resection (n = 2), and a vascular procedure (n = 2). The patients were divided into two groups. In group 1, MMA was used in full-thickness inlay fashion (n = 3), and in group 2, MMA was applied in partial-thickness onlay fashion (n = 17). The locations of reconstruction included the frontotemporal region (n = 5), the frontoparietotemporal region (n = 5), the frontal region (n = 9), and the vertex region (n = 1). The size of cranioplasty varied from 30 to 144 cm(2). RESULTS: The amount of MMA used ranged from 20 to 70 g. This biomaterial was applied without difficulty, and no intraoperative complications were linked to the applied material. The patients were followed for 6 months to 4 years (mean, 2 years) after MMA implantation. None of the patients showed any evidence of implant infection, exposure, or extrusion. Moreover, the construct appeared to be structurally stable over time in all the patients. CONCLUSIONS: Methyl methacrylate is a useful adjunct for treating deficiencies of the cranial skeleton. It provides rapid and reliable correction of bony defects and contour deformities. Although MMA is alloplastic, appropriate surgical procedures can avoid problems such as infection and extrusion. An acceptable overlying soft tissue envelope should be maintained together with minimal contamination of the operative site. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Heights and spatial relationships of the facial muscles acting on the nasolabial fold by dissection and three-dimensional microcomputed tomography.

The aim of this study was to clarify the heights and spatial relationships of the facial muscles acting on the nasolabial fold (NLF) by dissection and three-dimensional microcomputed tomography for use in aesthetic treatments. This study used 56 specimens from 34 embalmed adult Korean. A reference line (RF) was set to imitate the NLF after removing the skin, from the superior point of the alar facial crease to the lateral point of the orbicularis oris muscle at the level of the corner of the mouth. The heights and spatial relationships of the facial muscles along the RF could be categorized into five main patterns. The dominant pattern was that the levator labii superioris alaeque nasi muscle (LLSAN), levator labii superioris muscle (LLS), zygomaticus minor muscle (Zmi), and zygomaticus major muscle (Zmj) were on the medial third, medial half, middle third, and lateral third of the RF, respectively. In micro-CT imaging, beneath the skin of the medial half of the NLF, the LLSAN and Zmi fibers inserted into the dermis of the NLF and adjacent to the NLF. Beneath the skin of the middle third of the NLF, the Zmi fibers were found before the muscle inserted into the dermis of the NLF and adjacent to the NLF. Beneath the skin of the lateral third of the NLF, the lateral margin of the orbicularis oris muscle and some Zmj fibers were found at the location of the NLF. The present study utilized dissections and micro-CT to reveal the general pattern and variations of heights and spatial relationships of the facial muscles passing beneath the NLF. These findings will be useful for understanding which muscles affect specific parts of NLFs with various contours, for reducing the NLF in aesthetic treatments, and for reconstructing the NLF in cases of facial paralysis.

Piezoelectric osteotomy for intraoral harvesting of bone blocks.

Grafting with intraoral bone blocks is a good way to reconstruct severe horizontal and vertical bone resorption in future implant sites. The Piezosurgery System (Mectron) creates an effective osteotomy with minimal or no trauma to soft tissue, in contrast to conventional surgical burs or saws. In addition, piezoelectric surgery produces less vibration and noise because it uses microvibration, in contrast to the macrovibration and extreme noise that occur with a surgical saw or bur. Microvibration and reduced noise minimize a patient's psychologic stress and fear during osteotomy under local anesthesia. The purpose of this article is to describe the harvesting of intraoral bone blocks using the piezoelectric surgery device.

Experience with specially designed pored polyacetal mold dressing method used in McIndoe-style vaginoplasty.

INTRODUCTION: Appropriate postoperative care and prolonged use of the mold are prerequisites for achieving successful results in McIndoe-style vaginoplasty. OBJECTIVE: We introduce a specially designed pored polyacetal mold to maintain the reconstructed vagina, with favorable long-term results allowing drainage of the serous and bloody discharge without removal of the mold, and reduction of infection rate and the chance of skin graft shearing in McIndoe vaginoplasty. METHODS: We retrospectively reviewed data of 10 consecutive patients with Mayer-Rokitansky-Kuster-Hauser syndrome who underwent McIndoe vaginoplasty between March 2010 and January 2014. We used a specially designed pored polyacetal mold (Figure) in all reconstructed vaginal wounds. The anatomical surgical success was evaluated by physical examination and functional success, which was defined as satisfaction with sex evaluated by patient self-assessed questionnaire. RESULTS: The follow-up period ranged from 1 to 3.5 years. The postoperative mean vaginal length was 9.5 cm in nine patients who used the mold regularly. In all cases in which a pored polyacetal mold was used, skin engraftment was successfully maintained without partial skin graft loss or infection. The subjective patient self-assessed satisfaction evaluation reported a high satisfaction rate. DISCUSSION: The multi-holed polyacetal vaginal mold was designed to perform vaginal irrigation without removal of the mold, allowing drainage of the serous and bloody discharge. This makes it possible to reduce infection rate and maintain successful skin engraftment by reducing the chance of skin graft shearing. The characteristics of polyacetal make it useful as a vaginal mold material as it is lightweight to use, easy to manufacture in accordance with the dimensions of the neovaginal space, and cost-effective. Although a constant follow-up evaluation is required, the pored polyacetal mold is an attractive vaginal mold dressing material to maximize the initial graft uptake, and it can be individually tailored in patients undergoing McIndoe-style vaginoplasty. CONCLUSIONS: The specially designed vaginal mold made up of pored polyacetal is a proper vaginal mold, which could maximize the initial graft uptake, decrease the risk of wound infection, and, therefore, decrease contracture of the neovagina in patients undergoing McIndoe vaginoplasty.

Analysis of Facial Asymmetry in Deformational Plagiocephaly Using Three-Dimensional Computed Tomographic Review.

BACKGROUND: Infants with deformational plagiocephaly (DP) usually present with cranial vault deformities as well as facial asymmetry. The purpose of this study was to use three-dimensional anthropometric data to evaluate the influence of cranial deformities on facial asymmetry. METHODS: We analyzed three-dimensional computed tomography data for infants with DP (n=48) and without DP (n=30, control). Using 16 landmarks and 3 reference planes, 22 distance parameters and 2 angular parameters were compared. This cephalometric assessment focused on asymmetry of the orbits, nose, ears, maxilla, and mandible. We then assessed the correlation between 23 of the measurements and cranial vault asymmetry (CVA) for statistical significance using relative differences and correlation analysis. RESULTS: With the exception of few orbital asymmetry variables, most measurements indicated that the facial asymmetry was greater in infants with DP. Mandibular and nasal asymmetry was correlated highly with severity of CVA. Shortening of the ipsilateral mandibular body was particularly significant. There was no significant deformity in the maxilla or ear. CONCLUSION: This study demonstrated that the cranial vault deformity in DP is associated with facial asymmetry. Compared with the control group, the infants with DP were found to have prominent asymmetry of the nose and mandible.

Haematic cyst formation after orthognathic surgery.

A 34-year-old man suffered from discomfort originating from a mass located in his right zygomatic area. He developed orbital symptoms, such as diplopia, which lasted for 5 months. He also suffered from Crouzon's syndrome and had undergone a Lefort III osteotomy 9 years prior for correction of midfacial hypoplasia. The size of the mass slowly increased and his orbital symptoms developed further, eventually leading to surgical exploration. During the operation, a mass was found near titanium plates which had been used to fix bone segments during a previous surgery. The total mass, including the capsule, was excised. The pathologic report was a chronic haematic cyst with a non-neoplastic collection of blood or blood products that exerted a mass effect in the orbit and adjacent tissues. The causes of haematic cysts are diverse, with trauma being the most common. Although haematic cysts resulting from trauma have been widely reported, there have been few reports on haematic cysts associated with orthognathic surgeries, such as Lefort III osteotomies. This case demonstrates that haematic cysts may be delayed complications of major bone surgery and that surgeons and patients should be aware of this possibility.

Radiofrequency volumetric reduction for masseteric hypertrophy.

Masseteric hypertrophy occurs frequently among Asians, including Koreans, because of racial characteristics and dietary habits. It is thought to be an unpleasant feature, especially because of its strong and masculine impression. Recently, the authors developed a method for the volumetric reduction of hypertrophied masseter muscles using radiofrequency energy to correct the squared facial appearance caused by the hypertrophy. This study was performed to investigate the effects of radiofrequency applied to reduce hypertrophied masseter muscles of patients who sought an aesthetic alternative for a slim, smooth, and feminine-looking lower facial contour. A total of 340 patients were treated. The patients usually recognized the volume change 3 to 6 weeks after treatment, and an objective volume reduction was observed within 3 months of the operation. The range of the reduction in the masseter thickness, as measured by ultrasonic examination at a 6-month postoperative follow-up visit, was 10% to 60% (mean, 27%). Most of the patients could eat a nearly normal diet after 4 weeks and were satisfied with the improved aesthetic contour lines of their lower face. Radiofrequency-induced coagulation tissue necrosis of the masseter did not cause any infections or limitations of mouth opening, and the clinical improvement was well maintained after the treatment.