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.

Central Cemento-Ossifying Fibroma: Clinical Imaging and Histopathological Diagnosis / Fibroma Cemento-Osificante Central: Diagnóstico Clínico, Imagenológico e Histológico

ABSTRACT: Central ossifying fibroma is a lesion in which diagnosis has proved intriguing and unclear for presenting clinical, radiographic, and even histopathological similarities to other types of lesions such as the fibrous dysplasia of bone and cement-bone dysplasia. It is a benign neoplasm of uncertain etiology and slow development in which the mandible is affected more frequently than the maxilla. We described a case of central cemento-ossifying fibroma involving the right mandible of a thirty-five-female patient by presenting its clinical, radiographic, and histological characteristic sand discussing some differential diagnoses.

RESUMEN: El fibroma cemento-osificante central es una lesión que requiere un diagnóstico diferencial ya que muestran similitud clínica, histológica y radiológica con la displasia fibrosa y con la displasia cemento-ósea. Esta lesión es un tumor benigno de etiología incierta, presenta crecimiento lento y afecta principalmente la mandíbula más que el maxilar. Se reporta un caso de un paciente de sexo femenino de 35 años, diagnosticada con fibroma cementoosificante central que le afectó el lado derecho de la mandíbula. Se describen las características clínicas, histológicas y radiológicas de la paciente y se discuten los diversos diagnósticos diferenciales.

Strategies to Evaluate Bilateral Cleft Lip Treatment.

OBJECTIVE: Evaluate treatment of patients with bilateral cleft lip operated during the last 10 years, using the methodology of Mortier and Anastassov. METHODS: A total of 84 patients were evaluated using a preoperative score assessing fissure severity and a postsurgical score assessing of uncorrected or secondary deformities. A pre- and postcorrelation analysis was performed to evaluate the gain and identify the main postoperative alterations, using Spearman's statistical test (P < 0.001). RESULTS: About 89.3% underwent surgery between 4 and 7 months. Surgical techniques used Millard 65.5% and Mulliken 34.5%. Presurgical evaluation classified fissures as mild (0%), moderate (2.4%), severe (19.1%), or very severe (78.6%). Postoperative evaluation classified results as poor (24%), satisfactory (12%), good (15, 6%), very good (34.6%), or excellent (14.3%). The postoperative changes on the lip were the notch in the vermilion and the defect in the edge of the vermilion, and in the bow of the wide cupid; in the nose, the most frequent were deficiency in the upper nasal nostril, insufficient rotation of the alar base, broad tip, and short columella; in the scar and alveolar portion, the most frequent were alveolar cleft, premaxilla protrusion, and poor scar. Spearman correlation of preoperative and postoperative was positive of 0.43. CONCLUSION: The proposed measurement method is technically simple and can be performed without equipment allowing pre- and postoperative evaluation to identify the main alterations to be corrected.

Anatomical Reconstruction in Bilateral Cleft Lip With Mendoza Technique.

: The bilateral cleft lip (BCL) is the most severe manifestation of orofacial clefts. Multiple techniques have been described to reconstruct BCL to obtain good aesthetic and functional results with minimal complications. OBJECTIVE: Description of surgical technique for BCL reconstruction and present the postoperative results obtained. METHODS: Patients with BCL of the cleft lip and palate at ABC Medical Center from June 2013 to June 2017 operated with Mendoza bilateral cheiloplasty were included. The procedure includes an anatomical reconstruction of the lip with minimal resection of tissue, alignment of the orbicularis muscle, vestibule creation, and complete use of the prolabium. The evaluation was carried out by photographs analyzing parameters of quality, symmetry, and alignment of lip and nose structures. RESULTS: The authors included 36 patients, 15 women and 16 men. The average procedure time was 57 minutes. Photographs were evaluated 1 year postoperatively, symmetry in lip was observed in 91.6% of the patients, muscle continuity in 100%, deep gingivolabial sulcus in 94.5% of cases, closed nasal floor in 100% with no presence of nasovestibular fistulas. CONCLUSIONS: This technique allows an anatomical BCL reconstruction with good aesthetic and functional results.

Principales aspectos neurofisiológicos, clínicos, y genéticos, en una recién nacida con Síndrome de Cayler / Clinical, genetic, and neurophysiological main features in a newborn girl with Cayler Syndrome

En los neonatos, la hipoplasia o agenesia congénita del músculo depresor del ángulo de la boca (depresor anguli oris), es la causa de la asimetría facial durante el llanto. Los pacientes con esta anomalía, presentan caída de la comisura labial del lado intacto a diferencia de la parálisis facial de origen traumático o congénito, y su diagnóstico se obtiene fácilmente, mediante el examen físico. Esta anomalía está asociada con otras de origen congénito, sobre todo los defectos cardíacos, por lo que se nombra síndrome cardiofacial de Cayler. Se presenta una niña, recién nacida de 56 horas, atendida en el servicio de Neonatología del Hospital Pediátrico “Octavio de la Concepción de la Pedraja” de Holguín, Cuba. La paciente egresa con diagnóstico de síndrome de Cayler, al presentar asimetría facial durante el llanto, y tetralogía de Fallot. Se realizan estudios neurofisiológicos como: electroneurografía del nervio facial y electromiograma de los músculos depresores del labio.(AU)

Asymmetrical Crying Facies Syndrome, is caused by congenital hypolapsia or anguli oris agenesis. Patients usually present drop of the intact corner of their mouths while crying. Though it is easily diagnosed, it must be differentiated from traumatic or congenital facial palsies. This condition has been associated with several other anomalies, especially with heart issues. That´s why it is called Cayler Cardiofacial Syndrome. We have reported a case of a 56 hours newborn girl. She shows facial asymmetry as a valuable sign for suspecting other congenital anomalies. Clinical evaluation, including facial nerve electroneurography and electromyography, were performed.(AU)

Condylar Hyperplasia in a Monozygotic Twin Girl: An Argument About Etiology.

The diagnosis of unilateral condylar hyperplasia (UCH) requires a combined assessment consisting of clinical, radiological, and histopathological examination. The etiology of this condition is unknown. The purpose of this study is to report a rare case of UCH in a monozygotic twin. A 15-year-old girl was referred to our department complaining of facial asymmetry and malocclusion. Computed tomography and single-photon emission computed tomography imaging reveal enlargement of the left condyle and condylar neck, and an increased uptake that was diagnosed as active UCH. During the investigation of family and co-twin facial profile, no cases of UCH were identified. From the case reported in this study, the authors raise a hypothesis that can exist some environmental factor that is related in the development of condylar hyperplasia given the occurrence of this disease in one of twins.

Nonsurgical treatment for a severe anterior and lateral open bite and multiple congenitally missing teeth: a case report with 4-year follow-up

ABSTRACT This case report describes the treatment of a severe anterior and lateral open bite combined with multiple congenitally missing teeth. A 10-year-old girl presented with an open gonial angle, absence of lip sealing, and soft tissue pogonion retrusion. She had an open bite of 8.5 mm, agenesis of the upper right and left lateral incisors and the upper left first premolar, and transverse maxillary deficiency. Nonsurgical treatment was planned aiming at controlling the vertical pattern, establishing the correct overbite, and closing the spaces on the upper arch, to provide satisfactory occlusion and facial and dental esthetics.

RESUMO O presente caso clínico descreve o tratamento de uma mordida aberta anterior e lateral associada à ausência congênita de dentes permanentes. Paciente com 10 anos de idade, apresentava ângulo goníaco aberto, ausência de selamento labial passivo e retrusão do pogônio mole. Além disso, foi diagnosticada uma mordida aberta de 8,5 mm, agenesia de incisivos laterais superiores direito e esquerdo e de primeiro pré-molar superior esquerdo, além de deficiência transversa da maxila. O planejamento do caso envolveu um tratamento não cirúrgico, com controle vertical do crescimento, obtenção de correta sobremordida e fechamento dos espaços superiores. O caso foi finalizado com uma boa intercuspidação, contemplando a estética facial e dentária.

Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1.

We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was treated conservatively by a multidisciplinary team. So far, no changes have been observed in the patient's clinical status. We observed no recurrence of peripheral giant cell granuloma. To the best of our knowledge, the present case is the first report of a patient with neurofibromatosis Type 1 associated with a giant cell lesion and florid cemento-osseous dysplasia.

Surgical Resolution of Bilateral Hypertrophy of Masseter Muscle Through Intraoral Approach.

Masseter muscle hypertrophy is an untypical anomaly with no definite cause and its diagnosis is easily completed through physical examination and imaging examinations. In some cases, patient may report signs and symptoms of well-localizated pain. However, it is generally asymptomatic and patient's chief complaint is about esthetic because of facial asymmetry. In this case, surgery is carefully indicated. The aim of this article is to report a case of a male patient with no painful and functional complaints but an important unease over his facial asymmetry. Patient underwent surgery involving bilateral resection of mandibular angles and unilateral resection of masseter muscle through intraoral approach. Surgical approaches and techniques rely heavily on surgeon. There are few reports in the literature about this anomaly, but those available present several techniques. The surgeon's dexterity and knowledge become extremely important, whereas this procedure is essentiallyesthetic.

Florid cemento-osseous dysplasia and peripheral giant cell granuloma in a patient with neurofibromatosis 1

Abstract: We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was treated conservatively by a multidisciplinary team. So far, no changes have been observed in the patient's clinical status. We observed no recurrence of peripheral giant cell granuloma. To the best of our knowledge, the present case is the first report of a patient with neurofibromatosis Type 1 associated with a giant cell lesion and florid cemento-osseous dysplasia.

Infiltrating lipomatosis of the face: case series and literature review.

Infiltrating lipomatosis of the face is a rare disorder in which mature adipocytes infiltrate tissues, leading to facial asymmetry. We present three cases, emphasizing their clinical and imaging features. In two of our cases, typical clinical features of infiltrating lipomatosis of the face were observed, including enlargement of cheek and bones, as well as early tooth eruption. The other case stood out because of its uncommon clinical presentation: presenting with hemimacroglossia, ipsilateral submandibular gland enlargement, and papillomatosis on the dorsum of the tongue. The presence of infiltrating adipose tissue is essential to confirm the diagnosis.

Nonsurgical treatment for a severe anterior and lateral open bite and multiple congenitally missing teeth: a case report with 4-year follow-up.

This case report describes the treatment of a severe anterior and lateral open bite combined with multiple congenitally missing teeth. A 10-year-old girl presented with an open gonial angle, absence of lip sealing, and soft tissue pogonion retrusion. She had an open bite of 8.5 mm, agenesis of the upper right and left lateral incisors and the upper left first premolar, and transverse maxillary deficiency. Nonsurgical treatment was planned aiming at controlling the vertical pattern, establishing the correct overbite, and closing the spaces on the upper arch, to provide satisfactory occlusion and facial and dental esthetics.

Alteraciones estéticas faciales en el síndrome de seno silente / Facial aesthetic alterations in silent sinus syndrome / Alterações estéticas faciais na síndrome do seio silencioso

Introducción: el Síndrome de Seno Silente (SSS) es una entidad rara, siendo poco frecuente el hundimiento del maxilar superior como motivo de consulta. El trabajo pretende realizar una revisión de la bibliografía del SSS con el hundimiento del maxilar superior como principal manifestación. Material y método: Se realizó una revisión bibliográfica de artículos publicados desde el año 2008 a la actualidad. Se revisaron las historias clínicas de los pacientes diagnosticados con SSS, intervenidos quirúrgicamente. Como criterios diagnósticos se tuvieron en cuenta: asimetría facial, ausencia de síntomas rinosinusales, tomografía de macizo cráneo facial (TC MCF) con velamiento del seno maxilar y disminución de su volumen, y aumento del volumen orbitario. Se evaluó el seguimiento postoperatorio y sus resultados. Resultados: El SSS se debe a un proceso inflamatorio en el seno maxilar que genera aumento de las presiones negativas. Clínicamente se caracteriza por asimetría facial. El diagnóstico se confirma por tomografía, siendo lo más característico la presencia, en el plano coronal, de un seno maxilar ocupado y atelectásico y el descenso del piso orbitario con disminución del volumen del mismo y aumento del volumen de la órbita. El tratamiento quirúrgico se basa en mejorar las presiones dentro del seno maxilar, reservando el tratamiento del piso de la órbita a aquellos pacientes en los que persisten las alteraciones estéticas. Conclusiones: La asimetría facial es el principal motivo de consulta del paciente. Sin embargo el hundimiento del seno maxilar no es la causa más frecuente de asimetría.

Introduction: silent Sinus Syndrome (SSS) is a rare entity, and the subsidence of the upper jaw is rare. The paper aims to review the SSS literature with the upper jaw collapse as the main manifestation. Material and method: A bibliographic review of articles published from the year 2008 to the present time was carried out. Were viewed the medical records of patients diagnosed with SSS, whounder went surgery. As diagnostic criteria were taken into account: facial asymmetry, absence of rhinosinusal symptoms, massive facial cranial tomography with maxillary sinus veil and diminished volume, and increased orbital volume. Postoperative follow-up and results were evaluated. Results: The SSS is due to an inflammatory process in the maxillary sinus that generates an increase of the negative pressures. Clinically it is characterized by facial asymmetry. The diagnosis is confirmed by tomography being the most characteristic the presence, in the coronal plane, of a occupied maxillary sinus and atelectatic and the descent of the orbital floor with decrease of the volume of the same and increase of the volume of the orbit. The surgical treatment is based on improving the pressure inside the maxillary sinus, reserving the treatment of the floor of the orbit to those patients who persist the aesthetic alterations. Conclusions: Facial asymmetry is the main reason for patient consultation. However, sagging of the maxillary sinus is not the most frequent cause of asymmetry.

Introdução: síndrome do Sinus Silencioso (SSS) é uma entidade rara, e o maxilar inferior não é freqüente como motivo de consulta. O artigo pretende rever a literatura SSS com o colapso do maxilar superior como principal manifestação. Material e método: Foi realizada uma revisão bibliográfica de artigos publicados de 2008 para o presente. Revisamos os registros médicos de pacientes diagnosticados com SSS, que foram submetidos a cirurgia. Como critérios de diagnóstico foram tidos em conta: assimetria facial, ausência de sintomas rinossinusais, tomografia craniana facial maciça com velamento maxilar superior e volume diminuído e aumento do volume orbital. O acompanhamento pós-operatório e os resultados foram avaliados. Resultados: SSS é devido a um processo inflamató- rio no seio maxilar que gera um aumento nas pressões negativas. Clinicamente, é caracterizada por assimetria facial. O diagnóstico é confirmado pela tomografia sendo a mais característica a presença, no plano coronal, de um seio maxilar ocupado e atelectásico e a descida do piso orbital com diminuição do volume do mesmo e aumento do volume da órbita. O tratamento cirúrgico baseia-se na melhoria da pressão dentro do seio maxilar, reservando o tratamento do piso da órbita aos pacientes que persistem as alterações estéticas. Conclusões: A assimetria facial é o principal motivo para a consulta do paciente. No entanto, a flacidez do seio maxilar não é a causa mais frequente de assimetria.

Surgical Treatment of Condylar Hyperplasia Associated with Dentofacial Deformity: Low Condylectomy, Articular Disc Repositioning, and Orthognathic Surgery / Tratamiento Quirúrgico de Hiperplasia Condilar Asociado a la Deformidad Dentofacial: Condilectomía Baja, Reposicionamiento del Disco Articular y Cirugía Ortognática

Due to the complexity of the treatment of condylar hyperplasia associated with dentofacial deformities and its complications, if left untreated, the surgeon should be alert to these factors at the time of surgical planning to tailor the optimal therapy for an individual patient. This case report describes a patient with right condylar hyperplasia associated with dentofacial deformity who was treated surgically with low condylectomy, articular disc repositioning and anchoring, and orthognathic surgery, concomitantly, with stable results, satisfactory occlusion and facial harmony.

Debido a la complejidad del tratamiento de la hiperplasia condilar asociada con deformidades dentofaciales y sus complicaciones, si no se trata, el cirujano debe estar alerta ante estos factores en el momento de la planificación quirúrgica para adaptar la terapia óptima para cada paciente. Este caso describe un paciente con hiperplasia condilar derecha asociada con la deformidad dentofacial que fue tratado quirúrgicamente con condilectomía baja, reposicionamiento y anclaje del disco articular, y la cirugía ortognática, concomitantemente, con resultados estables, oclusión satisfactoria y armonía facial.

La artritis reumatoidea juvenil y su influencia en la alteración de desarrollo de la mandíbula / Juvenile rheumatoid arthritis and its influence on the alteration of jaw development

La artritis reumatoidea juvenil (ARJ) es una enfermedad inflamatoria autoinmune que se presenta en niños menores de 16 años. Es de curso crónico, etiología desconocida, y afecta sobre todo las articulaciones, como la temporomandibular (ATM). El daño de la ATM puede ocasionar: alteraciones en el crecimiento facial (micrognatia), maloclusión clase II, mordida abierta anterior, desviaciones laterales, erosiones óseas, destrucción del cón-dilo, oclusión disfuncional y alteración de la estética facial, entre otras consecuencias. La posición oclusal neurofisiológica lograda por medio de elementos electrónicos, como el Transcutaneus Electrical Neural Stimulation (TENS), y mantenida por el Dispositivo Intaroral (DIO) podría posibilitar la remodelación de la cabeza del cóndilo, en pacientes en crecimiento, en los que la enfermedad se halla controlada, regulando así también la sintomatología dolorosa...

Facial asymmetry: a current review.

The term "asymmetry" is used to make reference to dissimilarity between homologous elements, altering the balance between structures. Facial asymmetry is common in the overall population and is often presented subclinically. Nevertheless, on occasion, significant facial asymmetry results not only in functional, but also esthetic issues. Under these conditions, its etiology should be carefully investigated in order to achieve an adequate treatment plan. Facial asymmetry assessment comprises patient's first interview, extra- as well as intraoral clinical examination, and supplementary imaging examination. Subsequent asymmetry treatment depends on patient's age, the etiology of the condition and on the degree of disharmony, and might include from asymmetrical orthodontic mechanics to orthognathic surgery. Thus, the present study aims at addressing important aspects to be considered by the orthodontist reaching an accurate diagnosis and treatment plan of facial asymmetry, in addition to reporting treatment of some patients carriers of such challenging disharmony.

Facial asymmetry: a current review

Abstract The term "asymmetry" is used to make reference to dissimilarity between homologous elements, altering the balance between structures. Facial asymmetry is common in the overall population and is often presented subclinically. Nevertheless, on occasion, significant facial asymmetry results not only in functional, but also esthetic issues. Under these conditions, its etiology should be carefully investigated in order to achieve an adequate treatment plan. Facial asymmetry assessment comprises patient's first interview, extra- as well as intraoral clinical examination, and supplementary imaging examination. Subsequent asymmetry treatment depends on patient's age, the etiology of the condition and on the degree of disharmony, and might include from asymmetrical orthodontic mechanics to orthognathic surgery. Thus, the present study aims at addressing important aspects to be considered by the orthodontist reaching an accurate diagnosis and treatment plan of facial asymmetry, in addition to reporting treatment of some patients carriers of such challenging disharmony.

Resumo O termo assimetria é utilizado quando existe uma desigualdade entre as partes homólogas, afetando, assim, o equilíbrio entre as estruturas. A assimetria facial é comum na população, e muitas vezes se apresenta de forma subclínica. Entretanto, em alguns casos existe uma assimetria facial significativa que resulta tanto em problemas funcionais quanto estéticos. Nessas circunstâncias, a etiologia deve ser cuidadosamente investigada, para que seja possível elaborar um plano de tratamento adequado. A avaliação da assimetria facial é constituída por uma anamnese do paciente, exame clínico extra e intrabucal, além de exames complementares de imagem. O tratamento subsequente dessa assimetria depende da idade do paciente, etiologia e da magnitude da desarmonia, podendo envolver desde mecânicas ortodônticas assimétricas até a realização de cirurgia ortognática. Assim, o presente artigo busca abordar aspectos importantes para que o ortodontista possa realizar um adequado diagnóstico e plano de tratamento da assimetria facial, além de relatar o tratamento de alguns pacientes portadores dessa desafiadora desarmonia.

[Facioscapulohumeral muscular dystrophy: Report of seven patients]. / Distrofia muscular facioescapulohumeral en Chile: presentación de serie en hospital de referencia terciario.

BACKGROUND: Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy with an estimated prevalence of 1 per 20.000 and a normal life expectancy in the majority of patients. However, approximately 15% of patients become wheelchair bound in the course of their life. It is a hereditary autosomal dominant disease with high (95%) penetrance by the age of 20, but with variable degree of phenotypic expression even in the same family group. Symptoms frequently start in the second decade of life, with facial and scapular weakness. AIM: To report the clinical features of seven patients with the disease, seen at a public hospital. MATERIAL AND METHODS: Analysis of seven patients with genetic study seen in a public Hospital in Santiago. RESULTS: The age of patients fluctuated from 18 to 61 years and four were females. The mean age at onset of symptoms was 29 years and four had a family history of the disease. The usual presenting complaint was arm or shoulder asymmetric weakness. Four patients had bone pain. Facial involvement was present in four. A genetic study was done in five patients, the other two patients were relatives, confirming the contraction or lower number of repetitions in D4Z4 region. After 12 years of follow up only 2 patients older than 60 years cannot work and one female patients is in a semi dependent state at the age of 30. CONCLUSIONS: The clinical workup in the diagnosis and the timely indication of genetic studies are highlighted, to avoid unnecessary and invasive procedures. The variability in the phenotypic expression in a similar genetic defect is discussed and the genetic or epigenetic mechanisms of this muscular dystrophy are described.