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La enfermedad de Erdheim-Chester (EEC) es una patología poco frecuente, caracterizada por presentar infiltración xantogranulomatosa sistémica, con afección de diversos sistemas incluido el óseo. La EEC se encuentra descripta dentro de las enfermedades osteocon-densantes (EO), las cuales se reconocen por presentar aumento de la masa ósea y compromiso tanto de huesos largos como planos. La presentación clínica de la EEC es variada: puede presentar desde un curso indolente hasta manifestaciones multisistémicas. Las características radiológicas son de gran importancia para establecer su diagnóstico. Presentamos una paciente con EEC, con esclerosis bilateral de huesos largos, que exhibe algunas características diferenciales con relación a otros casos reportados: a) afectación exclusivamente ósea a 10 años de evolución, b) compromiso bilateral y simétrico de distinta magnitud, c) esclerosis cortical endóstica y perióstica, d) signos radiológicos sugestivos de periostitis, d) ausencia de compromiso metafisario, e) ausencia de actividad metabólica de las lesiones en las imágenes de 18F-FDG PET/CT.Conclusión: la presencia de lesiones osteocondensantes bilaterales exclusivamente en huesos largos deben hacer sospechar EEC. La ausencia de compromiso metafisario y de actividad metabólica en 18F-FDG PET/CT ha sido raramente descripta. (AU)

Erdheim - Chester disease (ECD) is a rare disease, characterized by systemic xanthogranulomatous infiltration, with involvement of various organs including bone. ECD is described within the sclerosing bone disorders, which are recognized for presenting increased bone mass and involvement of both long and flat bones. The clinical presentation of ECD is diverse, ranging from an asymptomatic course to multisystemic manifestations. Radiological features are of great importance to establish the diagnosis. We describe here a patient with ECD, with bilateral sclerosis of long bones that presents some differential characteristics in relation to other reported cases: a) exclusively bone involvement at 10 years of evolution, b) bilateral and symmetric involvement of different magnitude, c) endosteal and periosteal cortical sclerosis d) radiological signs suggestive of periostitis, d) absence of metaphyseal involvement, e) absence of metabolic activity of the lesions in 18F-FDG PET/CT.Conclusion: the presence of bilateral osteosclerosis exclusively in long bones should lead to suspect ECD. The absence of metaphyseal involvement and metabolic activity in 18F-FDG PET/CT have been rarely described. (AU)

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Hepatitis C-associated osteosclerosis (HCAO) remains a rare condition despite the growing prevalence of hepatitis C virus (HCV) infection worldwide. Since the first case reported in 1992, this is the twenty-second case described. Patients with HCAO present with severe bone pain and elevated serum levels of bone markers, especially alkaline phosphatase (ALP), with increased bone density. We report here the case of a 59-year-old man with generalized bone pain and diagnosis of HCV infection. Biochemical tests showed elevated bone turnover markers, specifically, ALP, carboxy-terminal collagen crosslinks and osteocalcin. Imaging studies revealed generalized bone sclerosis. Bone mineral density was elevated in all validated sites. His clinical symptoms and bone-related findings were attributed to HCAO. He was sequentially treated with cholecalciferol, prednisone, sofosbuvir associated with daclatasvir and ibandronate, and progressed with undetectable viral load after HCV treatment, normalization of ALP levels after introduction of ibandronate, and pain improvement 1 year after discontinuation of the bisphosphonate. Bone pain complaints must be investigated in patients with HCV. HCAO is a differential diagnosis of increased bone mass.

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OBJECTIVE: The study aimed to describe the diagnostic imaging features of idiopathic osteosclerosis (IO) to aid in differential diagnosis of similar dentomaxillomandibular conditions. MATERIALS AND METHODS: An archive of 550 dentomaxillofacial radiographic (panoramic radiography (PR) and cone beam computed tomography (CBCT)) images and 33,000 histopathological records were reviewed to identify IO cases. Chi-square, Student's t test, and ANOVA tests, with a significance of p < 0.05, were applied for comparative analysis. In addition, we analyzed various studies to present a short review. RESULTS: After meticulous observation, 36 images of 34 patients revealed 60 IO lesions in 31 PR and 5 CBCT. Sex, age group, anatomical site, shape, regularity, and root relationship showed statistical significance: sex and age group (p = 0.046), sex and IO regularity (p = 0.007), age group and IO regularity (p = 0.014), anatomical site and IO shape (p = 0.010), anatomical site and IO regularity (p = 0.003), and IO shape and IO regularity (p = 0.002). We presented a short review from 26 articles, including retrospective, cross-sectional, and longitudinal studies, documenting 2307 patients with 2435 IO lesions from 51,160 imagiological examinations. CONCLUSIONS: A radiographic diagnostic profile of IO may guide the clinical practitioners in differentiating an incidental radiopacity. PR is a preliminary examination, with CBCT facilitating the IO diagnosis. CLINICAL RELEVANCE: Knowledge of imaging characteristics variability of idiopathic osteosclerosis is crucial for accurate diagnosis process when incidental radiopacities are found in the panoramic radiographs, thus avoiding unnecessary biopsies. CBCT scans facilitate the interpretation of idiopathic osteosclerosis overlapping the mandibular canal.

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INTRODUCCIÓN: Osteopetrosis Infantil Maligna (OIM) es un grave e inusual desorden genético debi do a una actividad osteoclástica anormal. OBJETIVO: Reportar lactante en quien se documentó una Osteopetrosis Infantil Maligna, revisando aspectos diagnósticos y terapéuticos más relevantes. CASO CLÍNICO: Reportamos un lactante de 10 meses de sexo masculino en quien se confirmó OIM tras presentar plaquetopenia y visceromegalias. En su historial destacó ser primer hijo de padres no consanguíneos, y entre sus hallazgos presentó hepatoesplenomegalia, plaquetopenia y anemia graves, compromiso sensorial visual y auditivo e infecciones a repetición. El diagnóstico fue confirmado mediante estudio genético, el cual identificó 2 mutaciones heterocigotas en el gen TCIRG1. Se rea lizó trasplante de precursores hematopoyéticos, sin haber presentado recuperación hematológica, falleciendo por enfermedad veno oclusiva. DISCUSIÓN: La OIM es una enfermedad inusual, grave y de inicio temprano, siendo necesario un elevado índice de sospecha ante hepatoesplenomegalia y falla medular. El diagnóstico temprano y el trasplante de precursores hematopoyéticos son las únicas intervenciones potencialmente curativas de esta entidad letal.

INTRODUCCIÓN: Malignant Infantile Osteopetrosis (MIOP) is a rare and severe genetic disorder due to abnormal osteoclast activity. OBJECTIVE: To report an infant who presented Malignant Infantile Osteopetrosis, reviewing the most relevant diagnostic and therapeutic aspects. CLINICAL CASE: A ten- month-old male infant with diagnosis of MIOP confirmed after presenting thrombocytopenia and visceromegaly. He was the first child of non-consanguineous parents, and among the findings, he presented severe hepatosplenomegaly, thrombocytopenia, and anemia; visual and hearing impairment, and repeated infections. The diagnosis was confirmed by genetic study, which identified two heterozygous mutations in the TCIRG1 gene. Hematopoietic stem cells were transplanted without hematological recovery. The patient died due to occlusive venous disease. DISCUSSION: MIOP is a rare, severe, and early-onset disease, with a high rate of suspicion necessary in the presence of hepatosplenomegaly and bone marrow failure. Early diagnosis and hematopoietic stem cells transplanta tion are the only potentially therapeutic interventions of this lethal entity.

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OBJECTIVES: To test a more complete set of morphometric radiographic parameters to evaluate the idiopathic osteosclerosis (IO) lesions located in the maxillomandibular area and to know their features during routine radiographic evaluation. MATERIALS AND METHODS: Radiographs from patients attending the oral diagnosis clinic of our institution were reviewed. Evaluated parameters were gender and age of the patients, size, side, homogeneity, morphology, radiodensity, mineralization, borders, relation to roots, affected tooth or teeth and location of the analyzed lesions. RESULTS: Of the 6340 assessed patients, 354 (5.6%) harbored 362 lesions. IOs were more common during 2nd to 4th decades (mean age = 39 years). IO frequency rose from 1st to 3rd decades and then decreased. Size varied from 0.1 to 5.8 cm, and its frequency increased from 7 to 30 years age and then decreased too. The mandible and molar region were more commonly affected. Radiopaque image, radicular location, round shape, homogeneous core and well-defined boundaries were the more frequent IO features. CONCLUSIONS: Our method allows to analyze IO lesions with precise parameters. Analysis of the results does not support the previously suggested theories to explain their origin, and these figures suggest that the so-called IOs are developmental alterations of the bone.

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Hyperdense zones are considered a generic term to define an area of increased density regardless of its cause. Idiopathic hyperdense zones are referred in literature as enostosis, focal osteosclerosis, periapical osteopetrosis or bone scar and are found as imaging finding during a rutine radiograph. They have greater predilection for long bones, but can also appear in the maxillary bones in certain occasions, often located in the jaw, especially in the molar region, with an informed incidence rate that varies from 2,3 to 9,7% depending on the population in which the study is being applied. In 40% of the cases, in spite of being of idiopathic origin, they seem to be associated with patients with occlusal trauma or can be a result of a predominant development of isolated bone during bone growth. The case of a 36-year-old female patient is described, who presents hyperdensity that differs in form, location and imaging features from the commonly documented in this type of anatomical variations. It was diagnosed as idiopathic osteosclerosis, periodic imaging controls were established. The purpose of this case report is to emphasize the importance of performing an appropriate differential diagnosis among hyperdense lesions at maxillofacial level.

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BACKGROUND: Osteopetrosis is a heterogeneous group of diseases that are characterized by increased bone density due to abnormalities in osteoclast differentiation or function, which result in a lack of bone resorption. CASE REPORTS: Two patients with osteopetrosis onset since the first months of life, with facial dysmorphia, blindness, deafness, hepatosplenomegaly, hypotonia, neurodevelopmental retardation and bicytopenia. Bone radiographs showed osteosclerosis. They were assessed by different specialists prior to definitive diagnosis. Genetic analysis determined mutations in the TCIRG1 gene. Patient 1 had a homozygous mutation for p.Ile720Alafs*14 identified, which hasn't been previously reported. Patient 2 had a compound heterozygous mutation: the first one, p.Phe459Leufs*79, and the second one, p.Gly159Argfs*68, none of which has been previously reported as far as we know. CONCLUSION: The only therapeutic option for patients with osteopetrosis is hematopoietic stem cell transplantation (HSCT), which should be carried out in the course of the first 3 months of life, before neurological damage occurs. Although osteopetrosis diagnosis is relatively simple, it is delayed owing to the lack of clinical suspicion.

Antecedentes: La osteopetrosis es un grupo heterogéneo de enfermedades que se caracterizan por aumento de la densidad ósea debido a anomalías en la diferenciación o función de los osteoclastos, lo que se traduce en falta de reabsorción ósea. Reporte de casos: Dos pacientes con osteopetrosis quienes iniciaron su padecimiento desde los primeros meses de vida, con dismorfia facial, ceguera, sordera, hepatoesplenomegalia, hipotonía, retraso del neurodesarrollo y bicitopenia. Las radiografías óseas mostraron osteoesclerosis. Fueron valorados por diversos especialistas antes del diagnóstico definitivo. El análisis genético determinó mutaciones en el gen TCIRG1. En el paciente 1 se identificó una mutación homocigota para p.Ile720Alafs*14, la cual no ha sido reportada. En el paciente 2 se registró una mutación heterocigota compuesta: la primera p.Phe459Leufs*79 y la segunda p.Gly159Argfs*68, ninguna de las cuales han sido descritas hasta donde tenemos conocimiento. Conclusión: La única opción terapéutica de los pacientes con osteopetrosis es el trasplante de células progenitoras hematopoyéticas (TCPH), que se debe realizar en el transcurso de los primeros tres meses de vida, antes de que se origine daño neurológico. Si bien el diagnóstico de osteopetrosis es relativamente sencillo, se retrasa debido a la falta de sospecha clínica.

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BACKGROUND: The aim of this study was to analyse the prevalence and morpho-metric parameters of idiopathic osteosclerosis (IO) in a Chilean population. IO is an intraosseous growth of compact, benign, unilocular, non-expandable bone that is referred to as an anatomical variation. MATERIALS AND METHODS: A cross-sectional study was performed using 1000 digital panoramic radiographs of adults in which data on the location (maxillary/ mandibular, right/left hemiarcades), shape, position to the dental apex, and the prevalence of IOs were observed in relation to gender and age. The morphometric parameters evaluated were area, height, width, and the linear distances of the IO up to the midline and at the base of the mandible. RESULTS: The overall prevalence was 2.8% (27 individuals), with the majority of cases in women (66.7%) in the second, third, and fifth decades of life, but without significant differences. All cases were present in the mandible (100%), usually in the left hemiarcade (59.3%), molar (48.2%) and premolar (44.4%) regions; at the height of the dental apices (65.5%), with an irregular shape (40.7%) and round (37%). The area of the IOs was 33.9 ± 20.1 mm2, with a height of 7.7 ± ± 3.1 mm, width of 6.6 ± 3.1 mm, and the distance from the IO to the mandible median line was 26.6 ± 10.7 mm and 9.7 ± 3.7 mm to the mandibular base. CONCLUSIONS: All the data observed corroborate with previous studies; the IO does not present a large difference in the Chilean population evaluated compared to pre-vious studies carried out in other populations. (Folia Morphol 2018; 77, 2: 272-278).

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Abstract Giant Osteosclerotic Lesions (GOLs) are a group of rarely reported intraosseous lesions. Their precise diagnosis is important since they can be confused with malignant neoplasms. Objective This retrospective study aimed to record and analyze the clinical and radiographic Giant Osteosclerotic Lesions (GOLs) detected in the maxillomandibular area of patients attending to our institution. Materials and Methods: Informed consent from the patients was obtained and those cases of 2.5 cm or larger lesions with radiopaque or mixed (radiolucid-radiopaque) appearance located in the maxillofacial bones were selected. Assessed parameters were: age, gender, radiographic aspect, shape, borders, size, location and relations to roots. Lesions were classified as radicular, apical, interradicular, interradicular-apical, radicular-apical or located in a previous teeth extraction area. Additionally, several osseous and dental developmental alterations (DDAs) were assessed. Results Seventeen radiopacities in 14 patients were found and were located almost exclusively in mandible and were two types: idiopathic osteosclerosis and condensing osteitis. GOLs were more frequent in females, and in the anterior and premolar zones. 94.2% of GOLs were qualified as idiopathic osteosclerosis and one case was condensing osteitis. All studied cases showed different osseous and dental developmental alterations (DDAs). The most common were: Microdontia, hypodontia, pulp stones, macrodontia and variations in the mental foramina. Conclusions GOLs must be differentiated from other radiopaque benign and malignant tumors. Condensing osteitis, was considered an anomalous osseous response induced by a chronic low-grade inflammatory stimulus. For development of idiopathic osteosclerosis, two possible mechanisms could be related. The first is modification of the normal turnover with excessive osseous deposition. The second mechanism will prevent the normal bone resorption, arresting the osseous breakdown process.

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En la actualidad, la principal causa por la que acuden los pacientes al odontólogo es el dolor dental, endonde la mayoría presenta un padecimiento pulpar o periapical irreversibles, que pueden estar asociados a factores traumáticos e irritativos. Sin embargo, pocosde ellos son asintomáticos, como la osteítis condensante que es escasamente mencionada en elámbito de la Endodoncia; por lo tanto, el objetivo de este caso clínico es el de proporcionar información acerca de la osteítis condensante siguiendo los lineamientos internacionales de Case Report (CARE). La osteítis condensante tiene una incidencia muy baja en pacientes y se debe diagnosticar correctamente al momento de tratar este tipo de lesiones con las diferentes herramientas de diagnóstico que se conocen. En este caso, se presenta un paciente del sexo femenino de 58 años de edad con un estado prediabético, que refiere un fractura del segundo molar inferior derecho, al cual radiográficamente se le encontróuna lesión periapical radiopaca en la raíz distal. Se muestra la secuencia del tratamiento, el manejo clínico y la rehabilitación.

At present, the main reason for patients to visit adentist is dental pain, where most of them presenta pulp or periapical irreversible condition, whichmay be associated with traumatic and irritative factors. However, few of them are asymptomatic as osteitiscondensing that is barely mentioned in thefield of endodontics. The aim of this case report isto provide information about the condensing osteitisfollowing international Case Report (CARE)guidelines. Condensing osteitis has a very low incidence in patients and should be correctly diagnosed with the different available diagnostic tools. In thiscase a 58-years-old female patient, with prediabeticstate, referred of a right lower second molar fracturewhich radiographically showed a radiopaque periapicallesion in the distal root of the molar. The sequence of treatment, clinical management and rehabilitation is presented.

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