Diagnóstico e manejo das exostoses maxilares: relato de caso / Diagnosis and management of maxillary exostoses: case report

As exostoses maxilares são protuberâncias ósseas de caráter benigno, que se originam da cortical óssea e de etiologia controversa. Sua denominação vai depender da localização anatômica em que se encontra. Podem interferir na mastigação, fonação e adaptação de próteses removíveis parciais ou totais, devendo sua remoção ser considerada. O intuito deste trabalho é relatar o manejo de uma paciente com exostoses vestibulares em maxila e realizar uma breve revisão de literatura.

Maxillary exostoses are benign bony protuberances, which originate from the cortical bone and of controversial etiology. Its denomination will depend on its anatomical location. They can interfere with chewing, phonation and adaptation of partial or total removable prostheses, and their removal should be considered. The aim of this work is to report the management of a patient with vestibular exostosis in the maxilla and perform a brief literature review.

Clinical diagnosis of Potocki-Shaffer syndrome and literature review / 中华实用儿科临床杂志

Objective:To summarize the clinical and genetic characteristics of Potocki-Shaffer syndrome (PSS).Methods:A retrospective study was conducted to analyze the clinical data of 1 patient diagnosed with PSS in the Department of Pediatrics of the Sixth Affiliated Hospital, Sun Yat-Sen University at February 2021.The data analyzed included clinical manifestations, biochemical tests and gene tests.Meanwhile, studies were retrieved from the China National Knowledge Internet database, Wanfang database, and PubMed database from the establishment of the database to December 2021 by taking " Potocki-Shaffer syndrome" " EXT2 gene" " AlX4 gene" and " PHF21A gene" as key words.Besides, genes were searched from the Online Frontal Analysis Mendelian Inheritance in Man.The clinical and genetic features of PSS patients were summarized. Results:The patient was 5 months and 21 days old, male, who was admitted to the hospital due to excessive growth in body mass for the past 3 months.The patient showed mental and motor retardation, overgrowth, concealed penis, hearing loss, and hypotonia.Whole exon sequencing of this patient revealed heterozygous deletions in the Chr11: 44069455-48188946 region, including the deletions of 3 autosomal dominant genes: EXT2, ALX4, and PHF21A.The patient was diagnosed with PSS.A total of 14 articles published in English were collected, involving this boy and other 35 patients.In these patients, 14 cases had point mutations, and 22 cases had large deletions. PHF21A gene variation was detected in 23 cases (dysgnosia in 22 cases, dyskinesia in 21 cases, language development delay in 18 cases). EXT2 gene variation was observed in 22 cases (exostoses in 13 cases). ALX4 gene variation was found in 19 cases (bilateral parietal foramina in 15 cases). Of 36 cases, 27 cases had craniofacial anomalies. Conclusions:The main clinical symptoms of PSS are language and motor developmental delay, intellectual disability, exostoses, bilateral parietal foramina, and craniofacial anomalies, which are closely related to 3 autosomal dominant genes ALX4, EXT2 and PHF21A.Genetic testing facilitates the clinical diagnosis of PSS, and the mutation types are dominated by point mutations and large deletions.

Evaluation of oral stereognosis in completely edentulous patients with palatal tori / Evaluación de la estereognosia oral en pacientes completamente edéntulos con toros palatinos

Background: The corollary is not investigated in the completely edentulous patients with palatal tori. Objective: The aim of this study was to assess the oral stereognostic ability in completely edentulous patients with palatal tori. Material and Methods: Thirty-four completely edentulous patients aged 50 to 89 years were allocated to Group 1 (without palatal tori, n=18) and Group 2 (with palatal tori, n=16). The oral stereognostic test was conducted using 6 intraoral test pieces (circle/square/rectangle/triangle/plus/toroid) that were fabricated to standard dimensions using the light cure acrylic resin. Each test piece was placed in the patient's mouth and was asked to manipulate the test piece between the tongue and the palate. The patients identified the shapes by matching them on a shape chart. Each correct identification was assigned a score of 1. The response time taken to identify each shape was recorded. Statistical computation was done using a chi - square test and Mann-Whitney U test. Results: Significant difference was observed in the overall scoring percentages between the 2 groups (p<0.05). Group 2 had lower oral stereognostic scores compared to group 1 (p<0.05). There was no statistically significant difference in the mean response time for identifying the shapes among the groups, however group 2 patients had longer response time. Conclusion: Oral stereognostic ability of the completely edentulous patients with torus palatinus was lower when compared to completely edentulous patients without tori.

Antecedentes: el corolario no se investiga en los pacientes completamente desdentados con toros palatinos. Objetivo:El objetivo de este estudio fue evaluar la capacidad estereognóstica oral en pacientes completamente edéntulos con toros palatinos. Material y Métodos: Treinta y cuatro pacientes completamente edéntulos de 50 a 89 años fueron asignados al Grupo 1 (sin toros palatinos, n = 18) y al Grupo 2 (con toros palatinos, n = 16). La prueba estereognóstica oral se realizó utilizando 6 piezas de prueba intraorales (círculo / cuadrado / rectángulo / triángulo / cruz / aro) que se fabricaron a dimensiones estándar utilizando la resina acrílica fotopolimerizable. Cada pieza de prueba se colocó en la boca del paciente y se le pidió que manipulara la pieza de prueba entre la lengua y el paladar. Los pacientes identificaron las formas haciéndolas coincidir en un gráfico de formas. A cada identificación correcta se le asignó una puntuación de 1. Se registró el tiempo de respuesta necesario para identificar cada forma. El cálculo estadístico se realizó mediante la prueba de chi-cuadrado y la prueba U de Mann-Whitney. Resultados: Se observó una diferencia significativa en los porcentajes de puntuación generales entre los 2 grupos (p<0,05). El grupo 2 tuvo puntuaciones estereognósticas orales más bajas en comparación con el grupo 1 (p<0,05). No hubo diferencia estadísticamente significativa en el tiempo medio de respuesta para identificar las formas entre los grupos, sin embargo, los pacientes del grupo 2 tuvieron un tiempo de respuesta más largo.Conclusión: La capacidad estereognóstica oral de los pacientes completamente edéntulos con torus palatino fue menor en comparación con los pacientes completamente edéntulos sin torus.

Genetic mutation analysis in three pedigrees with hereditary multiple exostosis / 中华检验医学杂志

Objective:To detect the pathogenic gene of the three pedigrees with hereditary multiple exostosis, and to provide evidences for genetic counselling and prenatal diagnosis.Methods:The three families were admitted to the Institute of Medical Genetics of Henan Provincial People′s Hospital due to hereditary multiple exostosis from January 2018 to December 2020. Detail medical history and the blood samples of the family members were collected after they signed the informed consent forms. The pathological mutations were selected from the proband using whole exome sequencing (WES). Sanger sequencing was used to conduct the co-segregation analysis of the family members. The pathogenicity of the mutation was analyzed in combination with ACMG guidelines.Results:The EXT1 gene c.1056+2T>C mutation, c.369dupA (p.G124fs) mutation and the EXT2 gene c.1171C>T (p.Q391*) mutation were detected in the probands through whole exome sequencing. The same mutations were found in the patients from these three families, while the mutation was not detected among the healthy family members. These variations have co-segregated with the disease phenotype. According to ACMG guidelines, all mutations in these three families meet the criteria of pathogenic variations. Conclusion:The EXT1 gene c.1056+2T>C mutation, c.369dupA (p.G124fs) mutation and the EXT2 gene c.1171C>T (p.Q391*) mutation were identified to be responsible for hereditary multiple exostosis in these families.

Uncommon bilateral maxillary exostosis: case report / Exostose maxilar bilateral incomum: relato de caso

ABSTRACT Exostoses or hyperostoses are benign bony outgrowths originating from the cortical bone and depend on their location for a more precise designation. The most common types found in the oral cavity are the torus palatinus and the torus mandibularis. Buccal and palatal exostoses are located along the buccal aspect of the maxilla and/or the mandible (commonly in the premolar and molar areas) and on the palatal aspect of the maxilla (usually in the tuberosity area), respectively. The etiology of exostoses still hasn't been enlightened but an interaction between environmental and genetic factors is accredited. They are usually asymptomatic, unless the mucosa becomes ulcerated. The frequency of exostoses increases with age, having their biggest prevalence from 60 years old, being more common in men and suffering ethnic influences. A thorough evaluation is important for the correct diagnosis since other lesions have similar clinical characteristics to the exostoses such as osteomas. The majority of exostoses are diagnosed clinically along with radiographic interpretations, making the biopsy dispensable and the treatment is usually unnecessary. The aim of this article was to describe a case report of bilateral maxillary exostosis, unusual, in a female patient. If an excessive amount of bone is present the exostoses may exhibit a relative radiopacity on dental radiographs. Initially, periapical and panoramic radiographs were performed to evaluate the alterations. Due to the size of the exostoses a concomitant Cone Beam Computed Tomography was performed to confirm the diagnosis. The patient is in follow-up.

RESUMO Exostoses ou hiperostoses são crescimentos ósseos benignos originados da cortical óssea e dependem de sua localização para uma denominação mais precisa. Os tipos mais comuns encontrados na cavidade oral são o Tórus Palatino e o Tórus Mandibular. Exostoses bucais e palatais acometem a face vestibular do processo alveolar na maxila e/ou na mandíbula (comumente na região de molares e pré-molares) e a superfície do processo alveolar posterior (usualmente na área da tuberosidade maxilar), respectivamente. A etiologia das exostoses ainda não foi esclarecida, mas acredita-se em uma interação entre fatores ambientais e genéticos. São usualmente assintomáticas, a não ser que a mucosa se torne ulcerada. A frequência aumenta com a idade, tendo sua maior prevalência a partir de 60 anos de idade, sendo mais comuns em homens e sofrendo influências étnicas. É importante uma avaliação minuciosa para o correto diagnóstico, visto que outras lesões, como os osteomas, possuem características clínicas semelhantes às das exostoses. A maior parte das exostoses é diagnosticada clinicamente em conjunto com interpretações radiográficas, tornando a biópsia dispensável e o tratamento é usualmente desnecessário. O objetivo deste artigo foi relatar um caso clínico de exostose maxilar bilateral, incomum, em uma paciente do sexo feminino. Se uma quantidade excessiva de osso está presente, as exostoses podem mostrar uma relativa radiopacidade nas radiografias dentárias. Inicialmente foram realizadas radiografias periapicais e radiografia panorâmica para avaliar as alterações. Devido ao tamanho das exostoses, realizou-se uma Tomografia Computadorizada de Feixe Cônico, para confirmação do diagnóstico. A paciente encontra-se em acompanhamento.

Osteocondroma del radio. Presentación de un caso / Osteochondroma of the radio. Presentation of a case

RESUMEN Se presenta un paciente portador de un osteocondroma localizado en la metáfisis del radio izquierdo, diagnosticado por estudios radiográficos y anatomopatológicos, en el Hospital Universitario Celia Sánchez Manduley de Manzanillo, provincia Granma. Se realiza intervención quirúrgica con exéresis del tumor. La evolución clínica del paciente fue satisfactoria. El objetivo del presente trabajo fue realizar una revisión de la entidad y señalar la importancia de su conocimiento para establecer el diagnóstico correcto y la toma de decisiones terapéuticas adecuadas y oportunas.

ABSTRACT We present a patient with an osteochondroma located in the metaphysis of the left radius, diagnosed by radiographic and anatomopathological studies, at the Celia Sánchez Manduley University Hospital of Manzanillo, Granma province. Surgical intervention is performed with excision of the tumor. The clinical evolution of the patient was satisfactory. The objective of the present work was to conduct a review of the entity and indicate the importance of their knowledge to establish the correct diagnosis and the appropriate and timely therapeutic decisions.

Ultrasonic manifestations of subungual exostosis / 中国医学影像技术

Objective: To observe the ultrasonic manifestations of subungual exostosis. Methods Ultrasonic data of 9 cases with pathologically confirmed subungual exostosis after excision were retrospectively analyzed. The location, echo signal, boundary, morphology, posterior echogenicity and relationship with phalanx as well as blood flow of the lesions were observed. And the size of the lesion was detected. Results Solitarly lesion located on toe was detected in 9 patients, 8 at the hallux and 1 at the fourth toe, 5 at the right foot and 4 at the left foot. All lesions appeared as linear hyperechogenic mass with clear boundary and posterior acoustic shadowing located in the hyponychium of toes, with length from 0.50 cm to 1.33 cm and the average length of (0.86±0.29)cm, all connected with the distal phalanx with no interruption of bone continuity. No blood flow was detected in the mass. The hyponychium of the toe was thickened. Two cases with ingrown nail infection and 1 case with paronychia showed increased blood flow in the hyponychium, while other 6 cases showed no abnormal blood flow in the hyponychium. Conclusion: Subungual exostosis has some specific ultrasonic characteristics, which are helpful to the diagnosis of this disease.

Técnica de reconstrução de rebordo alveolar utilizando tórus palatino / Reconstruction of alveolar ridge using palatine torus: technical report / Reconstruction of alveolar ridge using palatine torus: technical report

Os enxertos ósseos autógenos são considerados como padrão-ouro para reabilitações de defeitos ósseos, e a região intrabucal constitui um excelente sítio doador para a resolução de defeitos ósseos pequenos e moderados. Este relato de caso clínico teve como objetivo descrever uma técnica cirúrgica para a obtenção de enxerto ósseo autógeno proveniente do tórus palatino para a reabilitação de altura e de espessura do rebordo ósseo alveolar remanescente referente ao elemento 11. Paciente do gênero feminino, 25 anos, procurou a clínica odontológica tendo como queixa principal a ausência do dente 11, perdido devido ao insucesso de um tratamento endodôntico. Radiograficamente, observou-se defeito ósseo horizontal na região do dente 11, e clinicamente, observou-se deficiência em espessura óssea vestibulolingual que impossibilitaria a instalação imediata de implante. Ao exame físico intrabucal, notou-se a presença de tórus palatino pronunciado, que apresentava 20 mm de comprimento, localizado na região central do palato e que, como sítio doador, mostrou-se de fácil acesso para a remoção do enxerto ósseo autógeno, mostrando-se suficiente em volume para a reconstrução do rebordo envolvendo um elemento unitário. Os blocos obtidos foram fixados com parafusos corticais medindo 1,5 mm. O acompanhamento clínico mostrou que a técnica proposta para reabilitação de rebordo alveolar para posterior inserção do implante unitário mostrou-se previsível e as dimensões de altura e de espessura de osso no sítio receptor, apesar da remodelação óssea sofrida, foi aceitável após sete meses, permitindo, de forma satisfatória, a reabilitação.

Autogenous bone grafts are considered as gold standard for rehabilitation of bone defects and the intrabucal region constitutes an excellent donor site for the resolution of small and moderate bone defects. This clinical case report aimed to describe a surgical technique to obtain an autogenous bone graft from the palatine torus for rehabilitation of height and thickness of the remaining alveolar bone ridge referring to element 11. A 25-year-old female patient sought the dental clinics having as main complaint the absence of tooth 11, lost due to failure of an endodontic treatment. Radiographically, a horizontal bone defect was observed in the region of the tooth 11 and clinically a bucco-lingual bone thickness defi ciency was observed that would make it impossible to insert the implant immediately. The presence of a pronounced palatine torus that was 20 mm long, located in the central region of the palate and which, as a donor site, was easily accessible for removal of the autogenous bone graft. Sufficient volume for rebuilding the collar involving a single element. The obtained blocks were fixed with cortical screws measuring 1.5 mm. Clinical follow-up showed that the proposed technique for alveolar ridge rehabilitation for posterior implant insertion was predictable and the dimensions of height and bone thickness at the recipient site, despite the bone remodeling suffered, were acceptable after 7 months allowing the oral rehabilitation.

Mechanical irritation by protruding bone: A possible cause of breast implant rupture

Although breast implants have been in clinical use for almost 6 decades and have undergone considerable development during this time, implant rupture is still a dreaded long-term complication. Some obvious external factors, such as trauma, can lead to implant rupture, but many studies have reported a high rate of “spontaneous” implant rupture. Herein, we present two cases with the aim of raising awareness of a new possible cause of “spontaneous” implant rupture: mechanical irritation by bony protrusions.

Heterotopic Ossification of the Xiphoid Process after Abdominal Surgery for Traumatic Hemoperitoneum

Heterotopic ossification of the xiphoid process is extremely rare, with only three cases previously reported. However, the surgical pathology for postoperative elongation of the xiphoid process after abdominal surgery has not yet been reported. We report a case of the postoperative elongation of the xiphoid process, 8 years after abdominal surgery for traumatic hemoperitoneum in a 53-year-old man. The patient underwent surgical excision of the elongated mass of the xiphoid process. Histopathology revealed multiple exostoses. Heterotopic ossification can occur after surgical trauma to soft or bone tissue. Surgical excision with primary closure is the treatment of choice for symptomatic heterotopic ossification.

Osteochondroma of the Distal Clavicle: A Rare Cause of Impingement and Biceps Tear of the Shoulder

Hereditary multiple exostosis (HME) is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Although the lesions are benign in nature, exostoses are often associated with characteristic progressive skeletal deformity and displaying clinical symptoms such as mechanical irritation or impingement. We present the successful arthroscopic resection in a 24-year-old HME male with impingement syndrome and long head tendon tear of the biceps caused by osteochondroma arising from the distal clavicle.

Minimally Invasive Total Hip Arthroplasty in a Patient with Hereditary Multiple Exostoses: A Case Report

@#Hip geometry abnormalities found in patients with hereditary multiple exostoses (HME) could promote premature hip joint degeneration which needs treatment. We report the case of a 45-year old male with right hip arthrosis who underwent two-incision minimally invasive (MIS-2) total hip arthroplasty (THA), with satisfactory outcome. This technique could be an alternative approach for performing THA in patients with hereditary multiple exostoses.

Autologous Fat Grafting as a Last Resort for Unsustainable Pain in a Woman with Multiple Osteochondromas

Multiple osteochondromas (MO) is characterized by the formation of osteochondromas throughout the entire body. Although the evidence regarding its pathogenesis is well understood, no curative treatment for the disorder is available. Patients can be treated symptomatically by surgical removal of painful osteochondromas. Unfortunately, some patients still suffer from severe pain, even after surgery. We report on a case concerning a 48-year-old woman with a history of MO who presented with persistent pain after surgical removal of a symptomatic osteochondroma of the left scapula and multiple symptomatic osteochondromas of the left foot and trochanteric region. Several interventions to reduce the pain did not have any lasting effect. Subsequently, she was treated with autologous fat grafting (AFG). After each session she was pain-free for at least one year and reported only partial recurrence of the pain. This is the first case report describing AFG for the treatment of pain after both surgical removal of an osteochondroma and symptomatic osteochondromas in a patient suffering MO with promising results. The treatment is more effective and clearly continues to remain active longer than injection therapy or pain medication. Future studies are necessary to confirm our results.

Síndrome de Langer-Giedion con deleción 8q23. 1-q24. 12, diagnosticado por hibridación genómica comparativa / Langer-Giedion syndrome with 8q23. 1-q24. 12 deletion diagnosed by comparative genomic hybridization

El síndrome de Langer-Giedion, también conocido como síndrome tricorrinofalángico tipo II, es una enfermedad hereditaria multisistémica que pertenece al grupo de síndromes por deleción de genes contiguos. La causa de este síndrome es una deleción heterocigota que compromete, por lo general, la región 8q23.3-q24.11 y afecta, principalmente, los genes TRPS1, RAD21 y EXT1. Este síndrome se caracteriza por osteocondromatosis múltiple en las extremidades, hipertricosis y fenotipo facial, que incluye pelo escaso en el cuero cabelludo, orejas grandes sobresalientes y nariz larga con una punta bulbosa. Se reporta el caso de un paciente colombiano con hallazgo de deleción en la región cromosómica 8q23.1-q24.12 mediante técnicas de hibridación genómica comparativa y hallazgos clínicos clásicos. Este es el primer caso reportado en Colombia.

The Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is a hereditary multisystemic disease part of the group of contiguous gene deletion syndromes. The cause of this syndrome is a heterozygous deletion that involves the chromosomal region 8q23.3-q24.11 and mainly affects genes TRPS1, RAD21, and EXT1. This syndrome is characterized by the presence of multiple osteochondromas in limbs, hypertrichosis, and facial phenotype that includes sparse scalp hair, large laterally protruding ears, a long nose with a bulbous tip. We report the case of a Colombian patient with finding of an 8q23.1-q24.12 deletion by comparative genomic hybridization array technique and classical clinical findings, being the first case reported in Colombia.

Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple.

Exostosis subungueal y su diagnóstico diferencial: A propósito de un caso / Subungual exostosis and its differential diagnosis: A case report

Los tumores y pseudotumores ungueales representan un desafío diagnóstico, principalmente, dada la compleja anatomía de la uña y la apariencia clínica similar de estas lesiones. La exostosis subungueal es una entidad de baja frecuencia que debe considerarse en el diagnóstico de las masas subungueales. No es un tumor verdadero, sino crecimiento anormal de hueso o una calcificación de tejido cartilaginoso. En el siguiente artículo, se comunica el caso de una exostosis subungueal y realizamos una breve discusión, enfatizando los diagnósticos diferenciales, principalmente el melanoma subungueal, que debe sospecharse siempre y derivarse en forma precoz.(AU)

Nail tumors and pseudotumors represent a diagnostic challenge, mainly due to the complex anatomy of the nail and similar clinical appearance of these lesions. Subungual exostosis is an entity of low frequency, which should be considered in the differential diagnoses of subungual masses. It is not a true tumor, but an overgrowth of bone or cartilage tissue calcification. In the following article, we report the case of a subungual exostosis and perform a brief discussion, emphasizing the differential diagnoses, including the subungual melanoma, which should always be suspected and referred in a timely manner.(AU)

Quality of Life in Patients with Osteochondromatosis / 대한정형외과학회잡지

PURPOSE: The purpose of this study is to help predict the prognosis of multiple osteochondromatosis patients with the investigation of social function, pain, physical function and quality of life of patients. MATERIALS AND METHODS: Forty-five cases were diagnosed as multiple osteochondromatosis from March 1993 to June 2014. We performed a survey on pain, daily life, school or work life assessment of research and development-36. Forty-five people who responded to the survey completely were enrolled. Variable factors, including physical functioning, role limitations due to physical health, role limitations due to emotional problems, energy/fatigue, emotional well-being, social functioning, pain, and general health state were considered as elements related to quality of life. In addition, we investigated significant factors for multiple osteochondromatosis patients, and analyzed the survey by scoring. Related factors included age (over 18 years and under 18 years), gender, body mass index, operation, joint deformity, recurrence of disease, family history, the number of involved joints and the location of tumor. Statistical analyses were performed using SAS ver. 9.3 (SAS Inc., Cary, NC, USA). p-values of <0.05 were deemed statistically significant. RESULTS: Patients with a family history of multiple osteochondromatosis showed a significantly decreased result of assessment, physical function, vitality of life, social activities, and health state. In addition, there was a tendency of a poor influence in pain, emotional wellbeing, and general health. CONCLUSION: The results suggest that family history is a significant factor influencing and predicting the quality of life. In other words, the developed patients in the household including patients with severe enough for the rest of the family to know have poor prognosis. Through this study multiple osteochondromatosis is a chronic disease having a profound impact on quality of life.

Research progress in hereditary multiple exostoses / 临床儿科杂志

Hereditary multiple exostoses (HME) is an autosomal dominant genetic disease characterized by multiple benign cartilage-capped tumors primarily at the juxta-epiphyseal region of the long bone or on the lfat bones. Because the tumor can interfere with normal epiphysis, it causes bone deformities. The clinical features include short stature, the mechanical axis deviation, and function impairment. Recent studies showed that EXT gene mutation was associated with HEM. The EXT gene was involved in the biosynthesis of heparin sulfate. The gene mutations resulted in abnormal chondrocyte differentiation. This paper reviews the research progress in clinical manifestation, pathogenesis, biochemistry, the genotype-phenotype correlations, and treatment in HME.

Utilização de exostose óssea associada com biomaterial em cirurgia de levantamento do soalho do seio maxilar / Use of bone exostosis associated with biomaterial in maxillary sinus floor elevation

Exostoses ósseas são crescimentos ósseos benignos do esqueleto craniofacial, que ocorrem ao longo da região vestibular, lingual (tórus mandibular) ou palatina (tórus palatino) dos maxilares. A presença dessas estruturas pode interferir na fonação, mastigação e adaptação de próteses parciais removíveis ou totais, devendo sua remoção ser sempre considerada. Além disso, a remoção e aproveitamento de tais estruturas deve ser considerada, também, nos casos de atrofia do rebordo alveolar, quando o objetivo é a reabilitação por meio de implantes dentários. Sendo assim, o objetivo do presente trabalho é relatar o caso clínico de uma paciente que apresentava um tórus palatino e necessitava de cirurgia para levantamento do soalho do seio maxilar, para posterior colocação de implante; o tórus foi removido e aproveitado em associação com biomaterial heterógeno...

Bone exostosis refers to benign bone growth in the craniofacial skeleton. They occur along the labial, lingual (mandibular torus) or palatal (palatal torus) regions of the jaws. The presence of these structures can affect phonation, chewing and adaptation to partial or completely removable dental prostheses. The removal of these structures should always be considered. In addition, the removal and use of these structures should also be considered in cases of atrophy of the alveolar ridge, when seeking to promote rehabilitation through the use of dental implants. Therefore, the aim of the present study was to report a clinical case in which a patient exhibited a palatal torus and required surgery for maxillary sinus floor lifting and subsequent implant placement. The palatal torus was removed and used in association with heterogeneous biomaterial...

Exostosis múltiple hereditaria: reporte de una familia / Hereditary multiple exostoses: report of a family

FUNDAMENTO: el osteocondroma es el tumor óseo benigno frecuente en la edad pediátrica y la exostosis múltiple hereditaria en sus variedades, con un patrón de herencia autosómica dominante, con distribución simétrica por casi todo el esqueleto, aunque puede existir distribución asimétrica en dos de los tres genotipos de la enfermedad. OBJETIVO: presentar una familia portadora de exostosis múltiple hereditaria, diagnosticada de forma multidisciplinaria, por aspectos clínicos, radiológicos e histopatológicos. CASO CLINICO: se presenta un caso de una familia con malformaciones músculos esqueléticos. Predominó la estatura baja y las lesiones nodulares duras no dolorosas en brazos, antebrazos, muslos, piernas, costillas y escápulas, con deformidades en regiones proximales y distales en ambos brazos, antebrazos; así como en tercio proximal y distal de las piernas. En las radiografías se observaron lesiones en la diáfisis de los huesos afectados de diferentes aspectos, ovaladas, lobuladas y alargadas, las cuales están bien delimitadas. A todos los pacientes se les realizó exámenes de laboratorio, los cuales fueron normales y recibieron tratamiento quirúrgico con resección de las tumoraciones más prominentes y las que presentaron mayor tendencia a la malignización, como son las de las costillas, escápula, pelvis y hombros. CONCLUSIONES: la exostosis múltiple hereditaria se considera una enfermedad poco frecuente en nuestro medio y el tratamiento de elección es el quirúrgico para mejorar las manifestaciones clínicas.

BACKGROUND: osteochondroma is the most common benign osseous tumor in pediatric age and hereditary multiple exostoses is one of its types with a pattern of dominant autosomal heredity and a symmetrical distribution in almost all the skeleton, although an asymmetrical distribution can appear in two of the three genotypes of the disease. OBJECTVE: to present the case of a family that suffers from hereditary multiple exostoses diagnosed in a multidisciplinary way from clinical, radiological, and histopathological aspects. CLINICAL CASE: the case of a family with muscular-skeletal malformations is presented. Short height predominated, as well as non-painful hard nodular lesions in arms, forearms, thighs, legs, ribs, and scapulas with deformities in proximal and distal areas in both arms and forearms and in the proximal and distal third of the legs. From the radiological point of view, lesions of different aspects (oval, lobate, elongated) and of well-defined appearance were observed in the diaphysis of the affected bones. All the patients underwent laboratory exams, the results of which were normal. The patients underwent surgical treatment with removal of the most prominent tumors and mainly those which presented a greater tendency to become malignant, like rib, scapula, pelvis and shoulder. CONCLUSIONS: hereditary multiple exostoses constitute an infrequent illness in our environment and surgical treatment is the best choice to improve the clinical manifestations.