Analysis of palatal marginal alveolar exostosis and palatal torus using cone-beam computed tomography.

The aim of the present study was to analyze palatal marginal alveolar exostosis (PMAE) and palatal torus (PT). Cone-beam computed tomography (CBCT) of the maxilla in multiplanar sections and volumetric renderings were used to assess this. PT and PMAE were classified according to location and morphology. Height, width, length, and thickness of the overlying mucosa were determined. The prevalence of PT and PMAE was assessed according to sex and age group. The correlation between the occurrence of PMAE and PT was also evaluated. A total of 385 CBCT scans were examined. PT was found in 38.70% of the sample and located more frequently in the middle third of the maxilla (52.35%) with a flat shape (42.95%). PMAE was found in 54.80% of the sample, bilaterally in 56.40% of the cases, and located more frequently in the molar region (62.42%) in the form of small nodules (36.97%). The mucosa covering PMAE was generally thicker than that over PT. The use of CBCT for the identification of PT and PMAE in vivo showed high frequencies of both conditions. The occurrence of PMAE was independent of the presence of PT.

Metachondromatosis: A Confusing Disease / Metacondromatose: Uma doença confusa

Abstract Metachondromatosis is a rare autosomal dominant genetic disease with incomplete penetrance that involves abnormal function of the PTPN11 gene. Differentiation between chondrogenic tumors is a challenge for orthopedists. We report a case of a 5 year-old girl with metachondromatosis, a disease that shares attributes with osteochondromas and enchondromas. We found multiple osteochondroma-like lesions with the atypical characteristic of guiding its growth toward the neighboring joint (epyphisis) instead of moving away from it. Furthermore, columnar enchondroma-like lesions were clearly visible in the right distal radius, in the proximal femoral cervix and in the iliac crests. The patient reported that some other tumor had disappeared or downsized with time. This case was debated between a multidisciplinary skeletal dysplasia group. The aforementioned clinical and radiographic findings reinforced the hypothetical diagnosis of metachondromatosis. Definitive diagnosis of metachondromatosisrequiresa combination of clinical, radiographical and histopathological findings. Differential diagnosis between enchondromas, osteochondromas and metachondromatosis is vital due to differences in malignization and natural history. When a patient has multiple enchondromas and osteochondromas with regression of some lesions and atypical radiographical characteristic of the osteochondroma-like lesions pointing toward the epiphysis, metachondromatosis, a rare disease, must be considered. Surgical treatment is reserved for painful lesions Risk of malignization is insignificant and genetic advice must be given due it is an autosomal dominant disease.

Resumo Metacondromatose é uma doença genética autossômica rara com penetração incompleta que envolve função anormal do gene PTPN11. A diferenciação entre tumores condrogênicos é um desafio para os ortopedistas. Relatamos um caso de uma menina de 5 anos com metacondromatose, doença que compartilha atributos com osteocondromas e encondromas. Encontramos múltiplas lesões semelhantes a osteocondromas com a característica atípica de guiar seu crescimento em direção à articulação vizinha (epífise) em vez de se afastar dela. Além disso, as lesões semelhantes a encondromas colunares eram claramente visíveis no raio distal direito, no colo uterino femoral proximal e nas cristas ilíacas. A paciente relatou que algum outro tumor tinha desaparecido ou reduzido com o tempo. Este caso foi debatido entre um grupo multidisciplinar de displasia esquelética. Os achados clínicos e radiográficos acima mencionados reforçam o diagnóstico hipotético da metacondromatose. O diagnóstico definitivo da metacondromatose é uma combinação de achados clínicos, radiográficos e histopatológicos. O diagnóstico diferencial entre encondromas, osteocondromas e metacondromatose é vital devido a diferenças na malignização e na história natural. Quando um paciente tem encondromas múltiplos e osteocondromas com regressão de algumas lesões e característica radiográfica atípica das lesões semelhantes ao osteocondroma apontando para a epífise, a metacondromatose, uma doença rara, deve ser considerada. Tratamento cirúrgico é reservado para lesões dolorosas. O risco de malignização é insignificante e conselhos genéticos devem ser dados por se tratar de uma doença autossômica dominante.

Chondrosarcoma secondary to hereditary multiple osteochondromas with spinal cord compression: A case report and systematic review.

Background: Hereditary multiple osteochondromas (HMOs) are a rare genetic disorder characterized by the formation of multiple benign osteochondromas that can undergo malignant transformation into chondrosarcoma. Case Description: A 24-year-old male with a history of HMO and osteochondroma surgery 4 years ago, presented with back pain and paresthesias. The magnetic resonance showed a right paravertebral infiltrating mass at the T12-L1 level causing spinal cord compression. Following en bloc resection of the tumor, the patient's symptoms/ signs resolved. The final pathological diagnosis was consistent with a chondrosarcoma. Conclusion: Chondrosarcomas secondary to HMO with spinal cord compression are rare. These patients often presenting with significant myelopathy/cord compression should undergo gross total resection where feasible to achieve the best outcomes.

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.

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.

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.

Aspectos clínicos e tomográficos de exostose mandibular extensa e o seu manejo para melhora na qualidade de vida: relato de um caso incomum na literatura / Clinical and tomographic aspects of extensive mandibular exostoses and their management to improve quality of life: report of an unusual case in the literature / Aspectos clínicos y tomográficos de excisis mandibular extensa y su manejo para mejora en la calidad de vida: relato de un caso inusual en la literatura

O tórus mandibular é considerado uma protuberância óssea (exostose) de etiologia desconhecida classificada como não-patológica, comumente vista em região lingual dos incisivos até pré-molares inferiores. Sua característica histopatológica é semelhante ao osso normal descrevendo-se osso cortical lamelar com a presença de canais de Havers, osteócitos normais e áreas dispersas de tecido conjuntivo. Normalmente se apresentam bilateralmente e indolores. Sem causar prejuízo na vida da pessoa que apresenta esta condição, devido estes aspectos, na maioria dos casos, não há intervenção cirúrgica, sendo o caso apenas acompanhado clinicamente. Neste caso apresentado, o objetivo é expor uma condição extrema desta exostose mandibular, tendo como finalidade a melhora na qualidade de vida do paciente(AU)

The mandibular torus is considered a bone protuberance (exostosis) of unknown etiology classified as non-pathological, commonly seen in the lingual region from the mandibular incisors to premolars. Its histopathological characteristic is similar to normal bone constituting lamellar cortical bone with the presence of Haversian channels, normal osteocytes and scattered areas of tissue containing connective tissue. They usually present bilaterally and painless. Without causing damage to the life of the person who shows this condition, due to these aspects, in most cases, there is no surgical intervention, being the case only followed clinically. In this case, the aim is to expose an extreme condition of this mandibular exostosis, with the purpose of improving the quality of life of the patient(AU)

El tórus mandibular se considera una protuberancia ósea (exostosis) de etiología desconocida clasificada como no patológica, comúnmente vista en región lingual de los incisivos hasta pre-molares inferiores. Su característica histopatológica es similar al hueso normal constituyéndose por hueso cortical lamelar con la presencia de canales de Havers, osteocitos normales y áreas dispersas de tejido que contiene tejido conectivo. Normalmente se presentan bilateralmente e indolores. Sin causar daño en la vida de la persona que presenta esta condición, debido a estos aspectos, en la mayoría de los casos, no hay intervención quirúrgica, siendo el caso sólo acompañado clínicamente. En este caso presentado, el objetivo es exponer una condición extrema de esta excisose mandibular, teniendo como finalidad la mejora en la calidad de vida del paciente(AU)

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.

Total knee arthroplasty in patients with multiple hereditary exostoses.

We present a case report of a patient with severe valgus deformity of the right knee due to multiple hereditary exostoses (MHEs) treated with total knee arthroplasty (TKA). The surgical management of MHE affecting the knee encompasses exostoses resection, joint deformity rectification, and limb-length discrepancy alignment. On rare occasions, distraction osteogenesis and TKA have been used to correct valgus deformities of the knee. TKA in MHE patients with knee involvement has only been described in 6 cases. Several considerations, such as extensive knowledge of frequently occurring skeletal aberrations, are required to successfully correct the deformities associated with MHE via TKA. This report describes a case of severe valgus knee deformity with a rotational component in MHE managed with TKA, the surgical technique, and future recommendations.

Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family.

Multiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE. In this family, a pathogenic variant c.544C > T (p. Arg182Ter) was identified in the EXT2 gene. This variant has been previously described in the literature, and here we are reporting the relationship with clinical findings. MHE is suspected according to the clinical manifestations; molecular research should be performed to establish the most frequent mutations. A support, diagnosis, and follow-up group should be created, and genetic counseling should be available for patients and families.

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.

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.

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

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.

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.

Imaging Aspects of Palatal Torus in Cone Beam Computed Tomography and Magnetic Resonance: Case Report.

The torus palatinus is a unilocular or multilocular exostosis that occurs in the midline of the hard palate. It is considered a common clinical finding. Magnetic resonance imaging (MRI) is not commonly used in dentistry and descriptions of the torus by this imaging method are therefore rare in the literature. This case study reports on a female patient referred to the dentist to elucidate a bone enlargement detected by MRI, which was requested by the physician who accompanied the patient for migraine treatment. Additional routine dental imaging exams were performed for the planning of different treatments. Here is a description of the torus palatinus along with MRI in order to provide a complete representation of the clinical finding.

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)

Multiple Skeletal Deformities in a Middle-Aged Man.

A 54-year-old man was seen in our endocrinology clinic with evidence of a limited range of motion in his left foot. He had a history of diabetes mellitus type 2 and atrial fibrillation. His family history included evidence of skeletal deformities in some of his relatives. This could imply the potential existence of a hereditary condition. It is worth noting that spontaneous mutations have been reported in some cases. A pertinent physical examination revealed a surgical scar on the patient's left knee, a hallux valgus deformity on his left foot with compromised joint function, and painless bony prominences on that same foot. The skeletal survey findings were consistent with multiple hereditary exostoses. Multiple osteochondromatosis (MO) is a rare genetic disorder associated with serious complications that may significantly affect the health related quality of life of anyone having the disorder. To prevent further complications, these patients require long-term follow-up with regular clinical and radiological examinations.

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...

Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditaria / Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses

Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1 / EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de cartílago, localizadas en yuxtaposición a epífisis de huesos largos, aunque, en los casos graves, pueden presentar una amplia distribución. El inicio es variable desde los 2-3 años hasta los 13-15 y presenta una incidencia estimada que va de 1/18 000 a 1/50 000 casos en los países europeos. Se presenta el caso de un doble alelo mutante en el gen EXT1 no informado previamente en una adolescente y su familia con exostosis múltiple hereditaria.(AU)

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.

Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditaria / Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses

Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1 / EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de cartílago, localizadas en yuxtaposición a epífisis de huesos largos, aunque, en los casos graves, pueden presentar una amplia distribución. El inicio es variable desde los 2-3 años hasta los 13-15 y presenta una incidencia estimada que va de 1/18 000 a 1/50 000 casos en los países europeos. Se presenta el caso de un doble alelo mutante en el gen EXT1 no informado previamente en una adolescente y su familia con exostosis múltiple hereditaria.

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditariaDouble mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostosesdisease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18 000 to 1/50 000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses