RESUMO
Relapsing polychondritis is a rare multisystem disease involving cartilaginous and proteoglycan-rich structures. The diagnosis of this disease is mainly suggested by the presence of flares of inflammation of the cartilage, particularly in the ears, nose or respiratory tract, and more rarely, in the presence of other manifestations. The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis to an occasional organ or even life-threatening manifestations such as lower airway collapse. There is a lack of awareness about this disease is mainly due to its rarity. In 2020, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a novel autoinflammatory syndrome, was described. VEXAS syndrome is attributed to somatic mutations in methionine-41 of UBA1, the major E1 enzyme that initiates ubiquitylation. This new disease entity connects seemingly unrelated conditions: systemic inflammatory syndromes (relapsing chondritis, Sweet's syndrome, and neutrophilic dermatosis) and hematologic disorders (myelodysplastic syndrome or multiple myeloma). Therefore, this article reviews the current literature on both disease entities.
Assuntos
Doenças Ósseas , Policondrite Recidivante , Humanos , Policondrite Recidivante/diagnóstico , Policondrite Recidivante/tratamento farmacológico , Policondrite Recidivante/genética , Inflamação/complicações , Doenças Ósseas/complicaçõesRESUMO
The diagnosis of unilateral condylar hyperplasia (UCH) requires a combined assessment consisting of clinical, radiological, and histopathological examination. The etiology of this condition is unknown. The purpose of this study is to report a rare case of UCH in a monozygotic twin. A 15-year-old girl was referred to our department complaining of facial asymmetry and malocclusion. Computed tomography and single-photon emission computed tomography imaging reveal enlargement of the left condyle and condylar neck, and an increased uptake that was diagnosed as active UCH. During the investigation of family and co-twin facial profile, no cases of UCH were identified. From the case reported in this study, the authors raise a hypothesis that can exist some environmental factor that is related in the development of condylar hyperplasia given the occurrence of this disease in one of twins.
Assuntos
Doenças Ósseas/diagnóstico por imagem , Doenças Ósseas/patologia , Doenças em Gêmeos/etiologia , Assimetria Facial/etiologia , Má Oclusão/etiologia , Côndilo Mandibular/patologia , Adolescente , Doenças Ósseas/complicações , Feminino , Humanos , Hiperplasia/complicações , Hiperplasia/diagnóstico por imagem , Hiperplasia/patologia , Masculino , Tomografia Computadorizada de Emissão de Fóton Único , Tomografia Computadorizada por Raios X , Gêmeos MonozigóticosRESUMO
OBJECTIVE: To provide recommendations based on evidence on the management of vitaminD deficiency in the general population. PARTICIPANTS: Members of the Bone Metabolism Working Group of the Spanish Society of Endocrinology. METHODS: Recommendations were formulated using the GRADE system (Grading of Recommendations, Assessment, Development, and Evaluation) to describe both the strength of recommendations and the quality of evidence. A systematic search was made in MEDLINE (Pubmed) using the term VitaminD and the name of each issue. Papers in English and Spanish with publication date before 17 March 2016 were included. Recommendations were jointly discussed by the Working Group. CONCLUSIONS: This document summarizes the data about vitaminD deficiency in terms of prevalence, etiology, screening indications, adequate levels and effects of supplementation on bone and non-skeletal health outcomes.
Assuntos
Vitamina D , Acidentes por Quedas/prevenção & controle , Idoso , Doenças Ósseas/complicações , Suplementos Nutricionais , Medicina Baseada em Evidências , Feminino , Fraturas Ósseas/prevenção & controle , Humanos , Nefropatias/complicações , Hepatopatias/complicações , Síndromes de Malabsorção/complicações , Masculino , Metanálise como Assunto , Pessoa de Meia-Idade , Debilidade Muscular/etiologia , Debilidade Muscular/prevenção & controle , Necessidades Nutricionais , Obesidade/complicações , Osteoporose/prevenção & controle , Fatores de Risco , Vitamina D/análogos & derivados , Vitamina D/sangue , Deficiência de Vitamina D/etiologia , Deficiência de Vitamina D/prevenção & controle , Deficiência de Vitamina D/terapiaRESUMO
Nodular sclerosis-subtype classic Hodgkin lymphoma in general manifests as bulky mediastinal lymphadenopathy but very rarely involves bones. We report FDG PET/CT findings of a 19-year-old man with pathology-proven, nodular sclerosis-type classic Hodgkin lymphoma. His initial FDG PET/CT scan at the diagnosis showed only hypermetabolic lymphadenopathy in the mediastinum. However, the FDG PET/CT acquired when the disease recurred 20 months later showed predominant osseous disease without additional nodal lesions outside the mediastinum.
Assuntos
Doenças Ósseas/complicações , Fluordesoxiglucose F18 , Doença de Hodgkin/complicações , Doença de Hodgkin/diagnóstico por imagem , Mediastino/patologia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Esclerose/complicações , Doenças Ósseas/diagnóstico por imagem , Doença Crônica , Doença de Hodgkin/patologia , Humanos , Linfonodos/patologia , Masculino , Mediastino/diagnóstico por imagem , Recidiva , Adulto JovemRESUMO
BACKGROUND: About 1,000 endangered Patagonian huemul deer (Hippocamelus bisulcus) remain in Chile and 350-500 in Argentina. Most groups (>100) are not recovering, and prevalence of osteopathology in Argentina was at least 57%. Here I describe relevant cases of osteopathology from a Chilean population which, however, recently also provided data on trace mineral status, supporting the initial hypothesis that nutrition may be a primary etiologic factor. Additionally, recent data on bone chemical composition of Argentine cases and soil analyses are discussed. RESULTS: Fluoride levels in Argentine cases with osteopathology were low and fluorosis was discarded as an etiological factor. Selenium deficiency occurred in 73% of huemul from the Chilean population which exhibited several cases with osteopathology. The pathophysiognomy included extensive erosion; tooth loss; porosification; perforations of palate, maxillar and mandibular bone with frequent exposure of tooth roots; and fractured mandibula. Areas currently used by remaining huemul have mainly acidic volcanic soils, which reduces selenium bioavailability: mean soil selenium levels from areas typically used by extant huemul were very deficient (0.19 ppm), corroborating documented overt selenium deficiency in local livestock and plants. The area of extant huemul is known to result in primary iodine deficiency in livestock which is aggravated by selenium deficiency. CONCLUSIONS: Currently the most parsimonious explanation for frequent osteopathology and lack of numerical recovery are the combined effects of selenium and iodine deficiencies based on: osteopathology in a population of selenium deficient huemul; selenium deficient livestock, plants and soils; acidic soils; and regional primary iodine deficiency. The nexus between mineral nutrition and population dynamics of huemul may be due to constraints on their movements to fertile lowlands, including the elimination of historic migratory traditions, and concomitant elimination of source populations.
Assuntos
Osso e Ossos/patologia , Cervos/fisiologia , Selênio/deficiência , Animais , Argentina , Doenças Ósseas/complicações , Doenças Ósseas/patologia , Osso e Ossos/efeitos dos fármacos , Chile , Conservação dos Recursos Naturais , Feminino , Fluoretos/análise , Geografia , Iodo/deficiência , Masculino , Solo , Dente/patologiaRESUMO
Bone disease in severe primary hyperparathyroidism (PHPT) is described classically as osteitis fibrosa cystica (OFC). Bone pain, skeletal deformities and pathological fractures are features of OFC. Bone mineral density is usually extremely low in OFC, but it is reversible after surgical cure. The signs and symptoms of severe bone disease include bone pain, pathologic fractures, proximal muscle weakness with hyperreflexia. Bone involvement is typically characterized as salt-and-pepper appearance in the skull, bone erosions and bone resorption of the phalanges, brown tumors and cysts. In the radiography, diffuse demineralization is observed, along with pathological fractures, particularly in the long bones of the extremities. In severe, symptomatic PHPT, marked elevation of the serum calcium and PTH concentrations are seen and renal involvement is manifested by nephrolithiasis and nephrocalcinosis. A new technology, recently approved for clinical use in the United States and Europe, is likely to become more widely available because it is an adaptation of the lumbar spine DXA image. Trabecular bone score (TBS) is a gray-level textural analysis that provides an indirect index of trabecular microarchitecture. Newer technologies, such as high-resolution peripheral quantitative computed tomography (HR-pQCT), have provided further understanding of the microstructural skeletal features in PHPT.
Assuntos
Fraturas Ósseas/etiologia , Hiperparatireoidismo Primário/complicações , Osteíte Fibrosa Cística/complicações , Biomarcadores/análise , Densidade Óssea , Doenças Ósseas/complicações , Cálcio/sangue , Feminino , Humanos , Hiperparatireoidismo Primário/patologia , Rim/diagnóstico por imagem , Masculino , Osteíte Fibrosa Cística/diagnóstico por imagem , Osteíte Fibrosa Cística/cirurgia , Hormônio Paratireóideo/sangue , Paratireoidectomia , Radiografia , Crânio/diagnóstico por imagem , Ultrassonografia , Vitamina D/análogos & derivados , Vitamina D/sangueRESUMO
Bone disease in severe primary hyperparathyroidism (PHPT) is described classically as osteitis fibrosa cystica (OFC). Bone pain, skeletal deformities and pathological fractures are features of OFC. Bone mineral density is usually extremely low in OFC, but it is reversible after surgical cure. The signs and symptoms of severe bone disease include bone pain, pathologic fractures, proximal muscle weakness with hyperreflexia. Bone involvement is typically characterized as salt-and-pepper appearance in the skull, bone erosions and bone resorption of the phalanges, brown tumors and cysts. In the radiography, diffuse demineralization is observed, along with pathological fractures, particularly in the long bones of the extremities. In severe, symptomatic PHPT, marked elevation of the serum calcium and PTH concentrations are seen and renal involvement is manifested by nephrolithiasis and nephrocalcinosis. A new technology, recently approved for clinical use in the United States and Europe, is likely to become more widely available because it is an adaptation of the lumbar spine DXA image. Trabecular bone score (TBS) is a gray-level textural analysis that provides an indirect index of trabecular microarchitecture. Newer technologies, such as high-resolution peripheral quantitative computed tomography (HR-pQCT), have provided further understanding of the microstructural skeletal features in PHPT.
A doença óssea no hiperparatiroidismo primário grave é representada pela osteíte fibrosa cística (OFC). Dor óssea, deformidades esqueléticas e fraturas patológicas são achados comuns na OFC. A densidade mineral óssea está, usualmente, extremamente diminuída na OFC, mas é reversível após a cura cirúrgica. Os sinais e sintomas da doença óssea grave incluem dor óssea, fraturas patológicas e fraqueza muscular proximal com hiper-reflexia. O comprometimento ósseo é tipicamente caracterizado pela aparência em “sal-e-pimenta” nos ossos do crânio, erosões ósseas e reabsorção das falanges, tumores marrons e cistos. Na radiografia, observam-se desmineralização difusa e fraturas patológicas especialmente nos ossos longos das extremidades. No hiperparatiroidismo primário (HPTP) sintomático grave, as concentrações séricas de cálcio e PTH estão usualmente bem elevadas e o comprometimento renal se caracteriza pela presença de urolitíase e nefrocalcinose. Uma nova tecnologia, recentemente aprovada para uso clínico nos Estados Unidos e na Europa, torna-se provável se difundir rapidamente, pois utiliza as imagens geradas pela densitometria DXA. O escore trabecular ósseo (TBS), obtido por meio da análise do nível da textura cinza das imagens dos corpos vertebrais, fornece informações indiretas sobre a microarquitetura trabecular. Novos métodos, como a tomografia de alta resolução quantitativa periférica computadorizada (HRpqCT), têm proporcionado conhecimentos adicionais sobre os achados da microarquitetura esquelética no HPTP.
Assuntos
Feminino , Humanos , Masculino , Fraturas Ósseas/etiologia , Hiperparatireoidismo Primário/complicações , Osteíte Fibrosa Cística/complicações , Densidade Óssea , Biomarcadores/análise , Doenças Ósseas/complicações , Cálcio/sangue , Hiperparatireoidismo Primário/patologia , Rim , Osteíte Fibrosa Cística , Osteíte Fibrosa Cística/cirurgia , Paratireoidectomia , Hormônio Paratireóideo/sangue , Crânio , Vitamina D/análogos & derivados , Vitamina D/sangueAssuntos
Doenças Ósseas/complicações , Fraturas Espontâneas/complicações , Fraturas Espontâneas/diagnóstico por imagem , Fraturas do Rádio/complicações , Fraturas do Rádio/diagnóstico por imagem , Fraturas da Ulna/complicações , Fraturas da Ulna/diagnóstico por imagem , Criança , Humanos , Masculino , RadiografiaRESUMO
Se realizó un estudio descriptivo y transversal de 77 pacientes de ambos sexos y edades entre 20-45 años con alguna afección del sistema osteomioarticular, atendidos en la consulta estomatológica de la parroquia Leoncio Martínez de Caracas, Venezuela, desde enero hasta Junio de 2009, a fin de relacionar la gingivitis crónica con algunas afecciones de este sistema según holograma del microsistema de dientes alemán. En la casuística, el meridiano más afectado fue pulmón-intestino grueso; predominaron las dolencias del sistema osteomioarticular en el lado izquierdo y la mayoría de campos de interferencia con la gingivitis crónica estuvieron en la parte derecha de la cavidad bucal. Asimismo, se hallaron alteraciones en la columna vertebral de los afectados con gingivitis leve, moderada y avanzada
A descriptive and cross-sectional study was conducted in 77 patients of both sexes and ages between 20-45 years with some condition of the osteomyoarticular system, attended in the dental department of the parish Leoncio Martínez from Caracas, Venezuela, from January to June 2009, in order to relate chronic gingivitis to some conditions of this system according to hologram of the German dental microsystem. In the case material the most affected meridian was lung-large intestine; osteomyoarticular system conditions prevailed on the left and most of the interference fields with chronic gingivitis were on the right side of the oral cavity. Also, abnormalities in the spine of those patients with mild, moderate and severe gingivitis were found
Assuntos
Humanos , Masculino , Adulto , Feminino , Adulto Jovem , Doenças Ósseas/complicações , Gengivite/complicações , Estudos Transversais , Epidemiologia DescritivaRESUMO
BACKGROUND: Brown tumor, a non-neoplastic process resulting from excess osteoclast activity, is found in primary hyperparathyroidism (HPTP) and secondary hyperparathyroidism (HPTS). We report a rare case of multiple spinal cord compression by brown tumors. CASE REPORT: A 47-year-old male with end-stage renal disease caused by hypertensive nephrosclerosis, on hemodialysis for 10 years and diagnosed with severe HPTS, developed back pain and sudden onset of gait difficulties progressing to paraplegia. A previous computed tomography (CT) of the lumbosacral spine demonstrated a solid lesion, located in the body of the sacrum, at S1-S2 level, with fine bone edge sclerosis, suggestive of brown tumor. A magnetic resonance imaging without gadolinium injection was performed. The examination revealed an insufflating bone lesion at thoracic level (T5/T6). Posterior laminectomy was followed by tumor excision. Histopathological analysis showed osteoid tissue streaked by fibroplasia with hemosiderin granulation. CONCLUSION: Differential diagnosis of sudden neurologic deficits and paraplegia in renal patients with secondary HPPT must consider the possibility of brown tumor.