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2.
Neurol Sci ; 44(4): 1207-1210, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36456879

RESUMO

BACKGROUND: Facial asymmetry when crying at birth (then called asymmetric crying facies or ACF) or when smiling or speaking loudly in adulthood is the consequence of the agenesis or hypoplasia of the muscle of one of the labial commissures. This developmental disorder of complex mechanism is well known by pediatricians to be a warning sign for underlying developmental disorders of variable severity. CASE REPORT: An 80-year-old man with medical history of renal agenesis was hospitalized for a transient motor deficit of the right face and arm revealing a lacunar stroke. Clinical examination showed an isolated left facial asymmetry upon smiling or talking out loud which had been known since childhood and was not related to the stroke, leading to the diagnosis of ACF. Cardiac ultrasound revealed a patent foramen. Chromosomal investigations could not be performed. DISCUSSION AND CONCLUSION: ACF is a rare disorder that may conceal associated congenital disorders such as heart, skeletal, or renal malformations. Its causing mechanisms are to this day still poorly understood but may include a genetic component as shown by familial cases and the identification of 22q11.2 deletions or trisomy 18 in some patients. Knowledge of this disorder seems highly relevant for adult neurologists, first because of the differential diagnosis with facial palsy, but mostly because it will allow them to screen patients for other congenital disorders such as heart malformations. Conversely, cardiologists and cardiac surgeon may search for an ACF when faced with a patient with a congruent heart defect.


Assuntos
Paralisia Facial , Cardiopatias Congênitas , Recém-Nascido , Masculino , Adulto , Humanos , Idoso , Criança , Idoso de 80 Anos ou mais , Assimetria Facial/complicações , Assimetria Facial/congênito , Assimetria Facial/genética , Paralisia Facial/diagnóstico , Paralisia Facial/etiologia , Coração , Músculos Faciais
3.
Pediatr Dermatol ; 38(2): 469-471, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33511637

RESUMO

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.


Assuntos
Mancha Vinho do Porto , Sirolimo , Síndrome de Sturge-Weber , Criança , Face/anormalidades , Assimetria Facial/congênito , Feminino , Humanos , Hiperplasia , Sirolimo/uso terapêutico , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Sturge-Weber/tratamento farmacológico
4.
Int J Oral Maxillofac Surg ; 50(3): 341-348, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32622511

RESUMO

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.


Assuntos
Face , Assimetria Facial , Face/anormalidades , Assimetria Facial/congênito , Assimetria Facial/patologia , Humanos , Hiperplasia/patologia , Mandíbula , Côndilo Mandibular/patologia
6.
Int J Oral Maxillofac Surg ; 49(11): 1464-1469, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32249036

RESUMO

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.


Assuntos
Assimetria Facial , Côndilo Mandibular , Adulto , Face/anormalidades , Assimetria Facial/congênito , Assimetria Facial/genética , Assimetria Facial/patologia , Humanos , Hiperplasia/genética , Hiperplasia/patologia , Côndilo Mandibular/diagnóstico por imagem , Côndilo Mandibular/patologia
7.
Int J Pediatr Otorhinolaryngol ; 128: 109726, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31639620

RESUMO

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.


Assuntos
Orelha Externa/anormalidades , Orelha Externa/cirurgia , Assimetria Facial/cirurgia , Adolescente , Criança , Assimetria Facial/congênito , Feminino , Humanos , Terapia de Luz Pulsada Intensa , Masculino , Procedimentos de Cirurgia Plástica/métodos , Couro Cabeludo , Expansão de Tecido
8.
Rev. méd. Hosp. José Carrasco Arteaga ; 11(3): 229-234, 30/11/2019. Ilustraciones
Artigo em Espanhol | LILACS | ID: biblio-1103737

RESUMO

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)


Assuntos
Humanos , Masculino , Feminino , Osso e Ossos , Procedimentos de Cirurgia Plástica , Assimetria Facial/congênito , Displasia Fibrosa Monostótica/cirurgia , Displasia Fibrosa Craniofacial/cirurgia , Mutação , Patologia , Ferimentos e Lesões , Diagnóstico , Estética , Genética
10.
Int J Pediatr Otorhinolaryngol ; 125: 107-112, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31280031

RESUMO

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.


Assuntos
Face/anormalidades , Face/cirurgia , Assimetria Facial/congênito , Hiperplasia/etiologia , Lipomatose/congênito , Lipomatose/diagnóstico por imagem , Adolescente , Adulto , Criança , Pré-Escolar , Face/diagnóstico por imagem , Assimetria Facial/diagnóstico por imagem , Assimetria Facial/etiologia , Assimetria Facial/cirurgia , Feminino , Humanos , Hiperplasia/diagnóstico por imagem , Hiperplasia/cirurgia , Lipomatose/cirurgia , Masculino , Radiografia Panorâmica , Estudos Retrospectivos , Tomografia Computadorizada Espiral , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Adulto Jovem
11.
Clin Plast Surg ; 46(2): 207-221, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30851752

RESUMO

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.


Assuntos
Síndrome de Goldenhar/cirurgia , Procedimentos Cirúrgicos Ortognáticos/métodos , Osteogênese por Distração/métodos , Pesquisa Biomédica , Diagnóstico Diferencial , Assimetria Facial/congênito , Feminino , Síndrome de Goldenhar/classificação , Síndrome de Goldenhar/diagnóstico , Humanos , Masculino
12.
J Craniofac Surg ; 30(2): 483-488, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30688816

RESUMO

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.


Assuntos
Craniossinostoses/cirurgia , Assimetria Facial/cirurgia , Órbita/anormalidades , Procedimentos Ortopédicos/métodos , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Endoscopia , Assimetria Facial/congênito , Assimetria Facial/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Órbita/diagnóstico por imagem , Órbita/cirurgia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do Tratamento
14.
J Oral Maxillofac Surg ; 76(12): 2625-2629, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-29859949

RESUMO

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.


Assuntos
Tamanho Corporal , Assimetria Facial/congênito , Síndrome de Goldenhar/patologia , Órbita/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Assimetria Facial/diagnóstico por imagem , Assimetria Facial/patologia , Feminino , Síndrome de Goldenhar/diagnóstico por imagem , Humanos , Lactente , Masculino , Variações Dependentes do Observador , Órbita/diagnóstico por imagem , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto Jovem
17.
Am J Hum Biol ; 29(5)2017 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-28398004

RESUMO

OBJECTIVES: Fluctuating asymmetries in the craniofacial skeleton have been shown to be predictive for mortality from degenerative diseases. We investigate whether lower face asymmetries are a potential marker for the developmental origins of health and disease. METHODS: The lower face of a representative sample of 6654 12- to 17-year old United States (US) adolescents (1966-1970, National Health Examination Survey III) was classified as asymmetric when the mandibular teeth occluded prognathically (forward) or retrognathically (backward) on one side of the face only. It was investigated whether these lower face asymmetries were directional (preferentially to the left or the right) or fluctuating (random left-right distribution) in the US population. RESULTS: Lower face asymmetries affected 1 in 4 of the US adolescents. Unilateral retrognathic dental occlusions were fluctuating asymmetries, had a US prevalence of 17.0% (95% confidence interval: 15.5-18.4) and were associated with race/ethnicity (P < .0001), not with handedness (P < .7607). Unilateral prognathic dental occlusions were directional asymmetries (P < .0001), had a US prevalence of 7.6% (95% confidence interval: 6.4-8.7) and were associated with large household size (P < .001) and handedness (P < .0223). Lower face asymmetries were not associated with distinct heritable traits such as color blindness. CONCLUSIONS: The findings suggest that lower face asymmetries are a marker for environmental stress and cerebral lateralization during early development.


Assuntos
Assimetria Facial/epidemiologia , Fatores Socioeconômicos , Estresse Fisiológico , Adolescente , Assimetria Facial/congênito , Humanos , Prevalência , Estados Unidos/epidemiologia
19.
Aesthetic Plast Surg ; 40(6): 926-930, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27734116

RESUMO

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 .


Assuntos
Toxinas Botulínicas Tipo A/administração & dosagem , Assimetria Facial/congênito , Assimetria Facial/tratamento farmacológico , Músculos Faciais/efeitos dos fármacos , Adulto , Estudos de Coortes , Estética , Expressão Facial , Músculos Faciais/fisiopatologia , Feminino , Humanos , Injeções Intramusculares , Lábio/efeitos dos fármacos , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
20.
Ann Plast Surg ; 76(3): 288-94, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25954839

RESUMO

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.


Assuntos
Assimetria Facial/cirurgia , Síndrome de Goldenhar/complicações , Procedimentos de Cirurgia Plástica/métodos , Gordura Subcutânea Abdominal/transplante , Criança , Pré-Escolar , Assimetria Facial/congênito , Feminino , Seguimentos , Humanos , Masculino , Satisfação do Paciente , Estudos Retrospectivos , Transplante Autólogo , Resultado do Tratamento
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