Facial hemihypertrophy in a girl with sturge-weber syndrome: Treatment with oral sirolimus.

In the last few years, the use of oral sirolimus has shown promising results in the treatment of some complex vascular anomalies, and recently, it has been used in patients with Sturge-Weber syndrome (SWS). We present the case of an 11-year-old girl with the diagnosis of SWS and hemifacial overgrowth treated with oral sirolimus. Throughout the eight months of follow-up, improvement of the port-wine birthmark, intraocular pressure, and neurocognitive development was noted. The mTOR inhibitors may be useful in the treatment of some patients with SWS.

Hemifacial hyperplasia: a case series and review of the literature.

Condylar hyperplasia is known to result in facial asymmetries and constitutes a well-recognized group of unilateral mandibular enlargements. Condylar hyperplasia has been sub-classified into hemimandibular hyperplasia and hemimandibular elongation. A much rarer disorder, hemifacial hyperplasia (or hemifacial hypertrophy) is a congenital malformation characterized by prominent unilateral overdevelopment of the hard and soft tissues of the face. The affected side grows at a faster rate than the non-affected side, creating a marked asymmetry that potentially involves the skeleton and teeth, as well as all components of the associated soft tissues. Hemifacial hyperplasia is usually identified at birth and progresses towards puberty, but is not thought to alter throughout the lifetime of affected individuals. A case series of five patients clinically diagnosed with hemifacial hyperplasia is presented, with the aim of reviewing the clinical features, discussing their individual surgical management, and summarizing the more recent identification of possible genetic mutations that may be responsible for hemifacial hyperplasia and related overgrowth disorders. It is speculated that depending on the genetic factors, the disorder may be progressive in specific cases.

Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

Hemifacial hyperplasia (HFH) is characterized by an increase in volume of all affected tissues of half of the face. It is present at birth, subsequently grows proportionally, and stops growing before adulthood. Unilateral condylar hyperplasia (UCH) consists of progressive asymmetric growth of the mandible and develops typically in early adulthood. Both disorders have an unknown aetiology. The overgrowth limited to one body part suggests somatic mosaicism, as this has been found in other similar localized overgrowth disorders. Often this includes a variant in a gene in the (PIK3CA)/PI3K/(PTEN)/AKT1/mTOR pathway. Here we report the case of an HFH patient with asymmetry present at birth, in whom a progressive growth pattern similar to UCH subsequently occurred, causing marked mandibular asymmetry. A condylectomy was successfully performed to stop the progressive growth. Somatic mosaicism for a mutation in PIK3CA was detected in the condylar tissue. This finding might indicate that both HFH and UCH can be caused by variants in genes in the (PIK3CA)/PI3K/(PTEN)/AKT1/mTOR pathway, similar to other disorders that result in asymmetrical bodily overgrowth.

Using an expanded scalp flap without fascial flap harvest or skin grafting for total auricular reconstruction in hemifacial microsomia with low hairline.

BACKGROUND: Total auricular reconstruction for hemifacial microsomia patients with extremely low hairline is a tough challenge in plastic surgery. In this work, a brand new technique using a singer expanded scalp flap without skin graft and combined with intense pulse light treatments (IPLT) for ear reconstruction is described in this special population. METHODS: From January 2015 to April 2019, 41 hemifacial macrosomia (HFM) patients with 70-100% low hairline were enrolled in our study. Operative treatment was performed in 3 stages: 1. Expander insertion and inflation; 2. Expander removal, costal cartilage framework fabrication and auricular reconstruction; 3. Tragus reconstruction and reconstructed auricle refinement. Several IPLTs were performed every 45 days until local area become hairless during the whole course. The first IPLT could be executed either before all the operations or during the expansion period. The flap was treated with M22 system using a filter of 695-1200 nm. Follow up ranged from 10 months to 4 years. RESULTS: During follow-up, 90.2% patients were surveyed as satisfied with the outcome, especially in the aspects of minimal scars, natural matched color and clear contour of the reconstructed ear. No serious complications happened. Patients starting the IPLT during the expansion period required less treatment times of depilation (p < 0.05). CONCLUSION: Auricular reconstruction using a single expanded scalp flap combined with intense pulse light depilation is a safe, effective and less invasive technique for hemifacial microsomia with extremely low hairline, and providing highly satisfying results. Initialing the IPLD during the expansion period is recommended. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Serie de Casos Clínicos: Displasia Osteofibrosa Craneofacial. Resolución Quirúrgica / Case Series: Craniofacial Fibrous Dysplasia. Surgical Treatment

INTRODUCCIÓN: La Displasia Fibrosa Ósea Craneofacial es una lesión ósea benigna en la que se da una sustitución de tejido óseo normal por tejido fibro-óseo. Desarrollada a partir de una mutación genética. Subordinada en variantes: monostósica y polistósica. Escasos casos son reportados sobre malignización de la patología. El Diagnóstico se realiza con la sospecha clínica y se confirma mediante exámenes de imagen y anatomopatológicos. CASO CLÍNICO: El presente trabajo presenta una serie de tres casos diagnosticados de Displasia Osteofibrosa Craneofacial en el Hospital José Carrasco Arteaga y Hospital del Río, Cuenca-Ecuador, en los que por el cuadro clínico de los pacientes se decidió tratamiento quirúrgico. EVOLUCIÓN: En todos los casos, la evolución fue favorable. Se logró resultados positivos, reducción de síntomas y mejoría estética general en todos los casos. CONCLUSIÓN: Se obtienen mejores resultados con los tratamientos quirúrgicos actuales (remodelado más congelamiento óseo), entre ellos: buenos resultados estéticos, mejor calidad de vida, menor riesgo de infecciones. En el presente trabajo los tres participantes sometidos a resolución quirúrgica señalaron que el tratamiento reflejó positivamente en el ámbito funcional, estético y emocional. (au)

BACKGROUND: Craniofacial Bone Fibrous Dysplasia is a benign bone lesion where normal bone tissue is replaced with fibrous tissue. Developed from a genetic mutation. Subordinated in variants: monostotic and polyistotic. Few cases are reported on malignancy of the pathology. The diagnosis is determined with clinical suspicion and confirmed by imaging and pathology tests. CASE REPORT: In this paper, we present a series of three cases diagnosed with Craniofacial Fibrous Dysplasia at José Carrasco Arteaga Hospital and Hospital del Río, Cuenca-Ecuador. All of patients were treated with surgery, because of the clinical features. EVOLUTION: In all the cases, the patient evolution was favorable. Reduction of symptoms and general aesthetic improvement were achieved in all cases. CONCLUSION: Better results are obtained with the current surgical treatments (bone remodeling plus bone freezing), among them: good aesthetic results, better quality of life, lower risk of infections. In the present paper, the three patients treated with the surgical procedure indicated that the treatment reflected positively in the functional, aesthetic and emotional aspects.(au)

Congenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia.

OBJECTIVE: To investigate the clinical, imaging and pathological features of congenital infiltrating lipomatosis of the face (CILF) and to discuss whether it is a subtype of hemifacial hyperplasia (HH). METHODS: Sixteen patients diagnosed with CILF were included in this study. All patients had undergone panoramic radiography and spiral CT examinations. Thirteen patients received biopsy, surgery treatment and pathological examination. The clinical documentation and imaging data were retrospectively reviewed. RESULTS: The cheeks (14/16), parotid glands (12/16), tongues (9/16), masticatory muscles (8/16) and the lips (7/16) were the most frequently affected soft tissue organs. The maxilla (14/16), zygoma (13/16), mandible (13/16) were involved among the maxillofacial bones. Dental malformations included macrodontia (8/16), poor formation of the roots (7/16), accelerated tooth germ development or premature eruption of permanent teeth (7/16) and missing of the permanent teeth (4/16). All malformations were restricted to one side of the face and did not trespass the middle line. Pathologically, CILF was featured by the diffuse infiltration of redundant mature adipose tissue into the tissue of the affected organ. CONCLUSION: CILF is a congenital developmental facial malformation characterized by infiltration of nonencapsulated, mature adipose tissue, resulting in facial soft and hard tissue hypertrophy and dental malformations in hemifacial structures. CILF could be considered as a subtype of HH.

Craniofacial Microsomia.

Clinicians use different diagnostic terms for patients with underdevelopment of facial features arising from the embryonic first and second pharyngeal arches, including first and second branchial arch syndrome, otomandibular dysostosis, oculoauriculovertebral syndrome, and hemifacial microsomia. Craniofacial microsomia has become the preferred term. Although no diagnostic criteria for craniofacial microsomia exist, most patients have a degree of underdevelopment of the mandible, maxilla, ear, orbit, facial soft tissue, and/or facial nerve. These anomalies can affect feeding, compromise the airway, alter facial movement, disrupt hearing, and alter facial appearance.

Postoperative Changes in Orbital Dysmorphology in Patients With Unicoronal Synostosis.

Orbital asymmetry in unicoronal synostosis impacts craniofacial appearance and can potentiate functional visual disturbances, such as strabismus. Surgical treatment aims to normalize overall cranial morphology, including that of the orbits. The purpose of this study was to compare postoperative changes in orbital asymmetry following 2 common procedures.Preoperative and 1-year postoperative computed tomography scans for patients with isolated, nonsyndromic unicoronal synostosis treated from 2007 to 2012, at 2 academic institutions were analyzed. Only patients treated by endoscopic suturectomy and postoperative helmeting or bilateral fronto-orbital advancement were included. Orbital index, depth, and volume asymmetry were determined for each patient both pre- and 1-year postoperatively. Student's t-tests were used to compare pre- and postoperative asymmetries within each treatment group. Regression analyses were used to examine postoperative change in asymmetry between treatment groups.Scans from 12 patients treated by fronto-orbital advancement and 23 treated by endoscopic suturectomy were analyzed. Differences between synostotic and nonsynostotic orbital index, depth, and volume were statistically significant both pre- and postoperatively. Statistically significant postoperative improvements in asymmetry were observed for orbital index, depth, and volume following suturectomy. Regression analysis indicated that the amount of pre- to postoperative change in all measures of asymmetry did not depend on surgical technique. Residual asymmetry following both procedures was apparent at 1 year postoperatively.Orbital asymmetry is improved, but not resolved following both fronto-orbital advancement and endoscopic suturectomy. Degree of improvement in symmetry is independent of surgical technique used.

Is There a Difference in Orbital Volume Between Affected and Unaffected Sides in Patients With Unilateral Craniofacial Microsomia?

PURPOSE: Craniofacial microsomia (CFM) is characterized by malformations of structures derived from the first and second pharyngeal arches. The orbit is variably affected. The purpose of this study was to determine whether there is a difference in orbital volume between affected and unaffected sides in patients with unilateral CFM. The specific aims were to 1) measure orbital volume, 2) compare affected and unaffected sides, 3) evaluate the correlation between clinical evaluation of orbital size and volumetric measurement, and 4) determine whether there is a correlation between orbital volume and severity of mandibular deformity. MATERIALS AND METHODS: This study is a retrospective case series of patients with unilateral CFM from Boston Children's Hospital (Boston, MA) who had a computed tomographic (CT) scan. Manual segmentation of the orbit using Mimics software (Materialise, Leuven, Belgium) was performed on CT images of the 2 orbits. The predictor variable was laterality (affected vs unaffected side) and the primary outcome variable was orbital volume. Wilcoxon signed rank test was used to compare these measurements and determine whether the affected side differed from the unaffected side. The correlation between orbital volume and Pruzansky-Kaban type of mandibular deformity, as documented in the medical record, was determined using the Spearman rank correlation coefficient. RESULTS: Thirty-nine patients were included. Orbital volume was 10% smaller on the affected side (P = .001) in 80% of patients. There was no correlation between orbital size and severity of mandibular involvement. CONCLUSION: The results of this study showed a marked difference in orbital volume between affected and unaffected sides in patients with unilateral CFM. These differences were small and might not be clinically relevant. Orbital volume did not correlate with severity of mandibular deformity.

Application of Local Injection of Botulinum Toxin A in Cosmetic Patients with Congenital Drooping Mouth Corner.

OBJECTIVE: This study aimed to investigate the clinical application and efficacy of local injection of botulinum toxin A (BTX-A) at the depressor anguli oris in patients with congenital drooping mouth corner. METHODS: From September 2013 to March 2015, 36 cosmetic patients received local injections of botulinum toxin A at the depressor anguli oris, with 1-3 injection sites in the moving region of the depressor anguli oris on each side. At each injection site, 2-4 U of BTX-A was injected, and the total dose for any unilateral treatment did not exceed 8 U. The change in the degree of drooping of the mouth corner before and after the injection was analyzed using statistical methods. The clinical efficacy, preservation time, and adverse reactions were observed. RESULTS: The degree of drooping of the mouth corners of the cosmetic patients before the treatment was compared with that at 1 month after using a paired t test, and the difference was statistically significant, with P < 0.01. The treatment results were satisfactory, and the effect was preserved for 6-9 months. None of the 36 cosmetic patients had any complications of bruising, infection, dysfunction in opening and closing the mouth, smile asymmetry, drooling, or dysarthria after the injection. CONCLUSIONS: The local injection of BTX-A at the depressor anguli oris can effectively lift a drooping mouth corner, thereby improving the depressed, stern, and aged appearance of the face. The performance of this treatment is simple, safe, and easy to perform in clinical applications. 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 .

Isolated Autologous Free Fat Grafting for Management of Facial Contour Asymmetry in a Subset of Growing Patients With Craniofacial Microsomia.

BACKGROUND: To report autologous free fat grafting as an isolated procedure to manage facial contour asymmetry of a subset of growing patients with craniofacial microsomia (CFM). METHODS: A retrospective analysis of CFM patients (n = 11) with low socioeconomic and intellectual status, poor oral hygiene, living far from our center, Pruzansky-Kaban I/II mandibles, without functional concerns, and with no craniofacial skeletal surgery who underwent isolated free fat grafting between 2012 and 2013 was conducted. Surgeon and parent/patient satisfaction were elicited. Computerized photogrammetric quantitative and qualitative facial symmetry analyses were performed. RESULTS: All patients underwent isolated autologous free fat grafting to restore the facial contour symmetry. Surgeon and patient/parent were mostly satisfied. There were significant (all P < 0.05) postoperative quantitative facial symmetry enhancement and an overall qualitative facial symmetry enhancement. CONCLUSIONS: A significant improvement of facial symmetry was obtained in this subset of growing CFM patients using only isolated free fat grafting.

Factors contributing to facial asymmetry in identical twins.

BACKGROUND: This study examines the potential contributions of environmental factors to variations in facial symmetry between identical twins. METHODS: Identical male and female twins were recruited from the Twins Days Festival in 2009 and 2010. Subjects independently completed a comprehensive questionnaire on their medical and personal history, and then posed for digital facial photography from several different angles. Eight facial features from these photographs were measured using Adobe Photoshop, and these facial features were then analyzed against survey responses between twins through multivariate regressions. RESULTS: A total of 147 pairs of identical twins were included. Twins who slept primarily prone had greater nasal midline deviation (p = 0.047) and oral commissure asymmetry (p = 0.027). Tooth extractions were significantly associated with canting of the plane of occlusion (p = 0.043), and use of dentures was associated with nasal midline deviation (p = 0.032) and oral commissure asymmetry (p = 0.007). Smoking was associated with canting of the plane of occlusion (p = 0.049) and upper eyelid ptosis (p = 0.023). Lastly, headaches were also associated with nasal midline deviation (p = 0.024). CONCLUSION: Exogenous factors such as prone sleep position, tooth extractions, dentures, and smoking are significant risk factors for facial asymmetry. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Surgical correction for unilateral lambdoid synostosis: a systematic review.

BACKGROUND: Unilateral lambdoid synostosis is considered to be the rarest form of craniosynostosis. Since the introduction of the Sudden Infant Death Syndrome "back to sleep" campaign, the incidence of unilateral lambdoid synostosis was reportedly increasing. This was proven to be false and a consequence of non-specific diagnostic criteria in excluding suture fusion from deformational changes. This, in turn, led to ambiguity in the literature in terms of features and surgical correction in the 1980s to 1990s. OBJECTIVE OF REVIEW: We aimed to navigate the literature for true studies of unilateral lambdoid synostosis and examine the results of their surgical corrections. TYPE OF REVIEW: A systematic review with a defined search strategy. SEARCH STRATEGY: A search on MEDLINE and Google Scholar using strategy: (Unilateral AND ((lambdoid* AND Synostosis) OR (lambdoid* AND Craniosynostosis) OR (Posterior AND Plagiocephaly)) AND (Surgery). EVALUATION METHOD: Articles were reviewed, and data were compiled into tables for analysis. RESULTS: Seventeen studies were included in this review. A total of 188 patients with unilateral lambdoid synostosis were identified. No patients had major complications (venous sinus tear, neurologic injury, or cerebrospinal fluid leakage). Facial asymmetry was widely noted, and only limited improvement was achieved postoperatively. Auricular displacement was variable and often persisted despite surgery. Neurodevelopment did not deteriorate postoperatively and even improved in several patients. Endoscopic techniques revealed shorter periods of hospitalization, reduced mean estimated blood loss, and no blood transfusion requirements. The timing of surgery at 6 to 12 months was found to be the optimal balance in preventing deterioration in neurodevelopment and allowing favorable cranial growth and morphology. CONCLUSIONS: The current evidence is difficult to navigate because of deformational plagiocephaly being misdiagnosed as unilateral lambdoid synostosis. Despite this, we present the only systematic review of all truly identifiable cases of unilateral lambdoid synostosis. Long-term quantitative studies are required to assess the benefits of the various surgical procedures.

Facial asymmetry with enlarged frontal sinus and hyperplasia of the cranial, nasal, and mandible bones.

The conditions of facial asymmetry are caused by congenital or acquired diseases, and several unclassifiable syndromes with unknown etiologies exist. In this report, a case of facial asymmetry with enlarged frontal sinus and hyperplasia of the frontal cranial bone and nasal bone is presented. Although the etiology of the facial malformation was clear, it was thought that the cause of the enlarged frontal sinus was related to the unidentified bony hyperplasia and facial asymmetry related to hemimandibular hyperplasia.

Correction of a severe facial asymmetry with computerized planning and with the use of a rapid prototyped surgical template: a case report/technique article.

Management of significant facial asymmetry presents a challenge due to the geometric complexity of the bony and other facial structures. Manual model surgery is an essential part of treatment planning but it can be complicated, time-consuming and may contain potential errors. Computer-aided surgery has revolutionized the correction of maxillofacial deformities. The aim of this study was to report a case of facial asymmetry when computerised simulation surgery was performed instead of manual model surgery and a virtually planned wafer splint was fabricated. A 26-year-old male was presented with a severe right-sided hemimandibular elongation. Following presurgical orthodontics high-resolution computer tomography scan was performed. The stack images were reformatted into a three-dimensional structure. Virtual Le Fort-I osteotomy was performed and the symmetry of the maxilla was corrected with the help of a three-dimensional planning software. A virtual intermediate surgical wafer was designed and produced with three-dimensional rapid prototyping technology. The mandible was rotated into the correct position following virtual bilateral sagittal split osteotomy to visualize the movements of the osteotomised mandibular segments. The two-jaw procedure was performed according to the virtual plan. The facial symmetry was improved significantly and stable occlusion was achieved. This complex case shows the advantages of computer-aided surgical planning and three-dimensional rapid prototyping for the correction of facial asymmetries.