Distrofia ósea esclerosante mixta / Mixed-sclerosing-bone-dystrophy

El término "distrofia ósea esclerosante mixta" describe la combinación de las características radiológicas correspondientes a melorreostosis, osteopoiquilosis y osteopatía estriada, como entidades individuales, que ocurren en un mismo paciente. El objetivo de esta comunicación es presentar el caso clínico de una paciente con diagnóstico de distrofia ósea esclerosante mixta y, a partir de este caso, realizar una revisión sobre el tema. (AU)

The term "mixed-sclerosing-bone-dystrophy" describes the combination of the radiological characteristics corresponding to melorheostosis, osteopoikilosis and osteopathia striata, as individual conditions, ocurring in the same patient. The aim of this communication is to present the clinical case of a patient diagnosed with mixed-sclerosing-bone-dystrophy and, based on this case, to undertake a review of this condition. (AU)

Diagnosis and management of Paget?s disease of bone / Diagnóstico e tratamento da doença de Paget óssea

Objective: To conduct a literature review on the diagnosis and management of Paget’s disease of bone. Materials and methods: This scientific statement was generated by a request from the Brazilian Medical Association (AMB) to the Brazilian Society of Endocrinology and Metabolism (SBEM) as part of its Clinical Practice Guidelines program. Articles were identified by searching in PubMed and Cochrane databases as well as abstracts presented at the Endocrine Society, Brazilian Society for Endocrinology Annual Meetings and the American Society for Bone and Mineral Research Annual Meeting during the last 5 years. Grading quality of evidence and strength of recommendation were adapted from the first report of the Oxford Centre for Evidence-based Medicine. All grades of recommendation, including “D”, are based on scientific evidence. The differences between A, B, C and D, are due exclusively to the methods employed in generating evidence. Conclusion: We present a scientific statement on Paget’s disease of bone providing the level of evidence and the degree of recommendation regarding causes, clinical presentation as well as surgical and medical treatment. Arq Bras Endocrinol Metab. 2014;58(6):587-99 .

Objetivo: Conduzir uma atualização das últimas evidências científicas a respeito da apresentação, diagnóstico e manejo clínico da doença de Paget óssea. Materiais e métodos: Este documento foi concebido pelo Departamento de Metabolismo Ósseo da Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) a partir daquele oriundo do Programa de Diretrizes da Associação Médica Brasileira (AMB). Realizamos uma revisão dos artigos mais relevantes obtidos nos bancos de dados PubMed e Cochrane, além de abstracts apresentados nos encontros anuais da Endocrine Society, Sociedade Brasileira de Endocrinologia e da American Society for Bone and Mineral Research dos últimos cinco anos e classificamos as evidências em níveis de recomendações de acordo com a força científica por tipo de estudo, adaptando o primeiro relato do “Oxford Centre for Evidence-based Medicine”. Todos os graus de recomendação, incluindo-se o “D”, foram baseados em evidência científica, sendo as diferenças entre o A, B, C e D devidas exclusivamente ao desenho empregado na geração da evidência. Conclusão: Apresentamos uma atualização científica a respeito da doença de Paget óssea, classificando e graduando em níveis de recomendações as principais evidências científicas sobre as suas causas, as variadas formas de apresentação, seu diagnóstico e tratamento. .

Paget disease of the bone: Does it exist in Saudi Arabia?

Paget disease of the bone is a chronic disease characterized by accelerated bone turnover with abnormal repair leading to expansion, pain and deformities. The disease is common in the West, but little if any information is available on its existence in the Arab world, including Saudi Arabia. We present four cases of Saudi patients with Paget disease with variable presentations. The first case, a 63-year-old woman with a history of papillary thyroid cancer, presented with bone, shoulder and chest wall pain and foci of uptake in the ribs and skull that were thought to be metastases, indicating the possibility of diagnostic difficulty in a patient with history of malignancy. Bone biopsy confirmed the diagnosis of Paget disease. The second case was a 47-year-old asymptomatic woman with an elevated alkaline phosphatase of 427 U/L, a common presentation but at an unusual age. Plain x-rays and bone scan confirmed the diagnosis. The third case was a 43-year-old man who presented with hearing impairment and right knee osteoarthritis, unusual presentations at a young age leading to a delay in diagnosis. The fourth case was a 45-year-old man who presented with sacroiliac pain and normal biochemical values, including a normal alkaline phosphatase. Bone biopsy unexpectedly revealed features of Paget disease, which evolved over time into a classical form. A common feature in all except the first case was the relatively young age. Paget disease does exist in Saudi Arabia, and it should be considered in the differential diagnosis of similar cases

Doença de Paget com acometimento sacral: relato de caso / Paget's disease with sacral involvement: a case report

Os autores relatam o caso de um paciente do sexo masculino, 71 anos de idade, com diagnóstico de doença de Paget óssea sacral. Foi realizado estudo com radiografia, cintilografia, tomografia computadorizada e ressonância magnética, e o diagnóstico foi confirmado por análise histopatológica. O paciente evoluiu com boa resposta ao uso de ibandronato 150 mg, mensalmente, com redução significativa dos marcadores bioquímicos da doença.

The authors report a case of a 71-year-old male patient diagnosed with Paget's disease of sacrum. Imaging study was performed with radiography, scintigraphy, computed tomography and magnetic resonance imaging, and the diagnosis was confirmed by biopsy. The patient progressed with a good response to monthly treatment with ibandronate 150 mg, presenting a significant reduction in biochemical markers of disease.

Juvenile paget?s disease.

Juvenile Pagets disease (JPD), a rare genetic disorder characterized by markedly accelerated bone turnover, presents in early childhood. We report a child with typical features of JPD who remained undiagnosed till 15 years of age. Rarity of this disease in Indian literature and need for early diagnosis to prevent progression of disease prompted us to report this case.

Desarrollo de hiperparatiroidismo primario en el seguimiento de un paciente con enfermedad de Paget / Development of primary hyperparathyroidism in the follow-up of a patient with Paget´s disease

La asociación de hiperparatiroidismo primario y enfermedad de Paget varía entre 2.2 y 6%. Hasta el año 2006 se habían descripto 73 casos con simultaneidad de ambos diagnósticos. Se presenta el caso de un paciente varón de 68 años con un Paget poliostótico activo medicado durante 10 años con bisfosfonatos, con buena evolución. A los 10 años de seguimiento se observan elevados niveles de calcemia, calcio iónico, la fosfatasa alcalina (FAL), su isoenzima ósea (FAIO), e intactos los valores de parathormona (PTHi). Se establece el diagnóstico de hiperparatiroidismo primario. Dado el inestable estado general se decide postergar la cirugía y tratarlo con zoledronato IV con buena respuesta.

According to the medical literature, the association of primary hyperparathyroidism and Paget's disease varies from 2.2 to 6%. Up to the year 2006, a total of 73 cases had been described, where both diagnoses occurred simultaneously. However, no manifestation of primary hyperparathyroidism during the follow- up of Paget's disease has been reported in the revised literature. We report the case of a well-controlled patient, who developed primary hyperparathyroidism during the 10-year follow-up of Paget's disease. A 68-yearold male patient with active polyostotic Paget's disease was successfully treated with bisphosphonates for ten years. During follow-up, increased levels of calcemia, ionic calcium, alkaline phosphatase, bone alkaline phosphatase and intact parathyroid hormone values were registered. The patient was diagnosed with primary hyperparathyroidism. As a result of his unstable general health condition, surgery was postponed and intravenous zoledronic acid was prescribed, with a favorable outcome.

Paget's disease scintgraphy and hormonal treatment

Pagetr's Disease is an intense osteoclastic resorption of bone followed by intense osteoblastic activity accompanied by intense vascularity replacement of normal lamellar bone with connective tissue with a significant in mature collagen content and subperiosteal new bone formation resulting in the characteristic cortical thickening. Pagefs disease can cause pain in the bones or joints, headaches and hearing loss, pressure on nerves, increased head size, bowing of limb, or curvature of spine. Tests used to diagnose Paget's disease include X-ray, blood and urine tests and bone scanning. The recommended treatment, in addition to receiving 1000-1500 mg of calcium, adequate sunshine, ca400 units of vitamin D daily, are the bisphosphonates and calcitouin which need to be monitored by hormonal analysis within the treatment period, also serum alkaline phosphatase [SAP] level in the blood is important in monitoring the progress of treatment

Doença de Paget - enfoque atualizado com ênfase na elaboração de um correto diagnóstico / Paget's disese - updated focus emphasizing the development of a correct dignosis

Objetivo: a Doença de Paget, uma desordem focal da remodelação óssea. é caracterizada por uma excessiva reabsorção seguida de intensa neoformação do osso afetado, apresentando um importante componente genético com evidências de heterogeneidade. De achado geralmente ocasional, típica da idade adulta e de tratamento variável. a doença é capaz de afetar vários ossos, simultaneamente. e provocar profundas deformidades, necessitando, portanto, de novos estudos com o intuito de esclarecer o seu diagnóstico, uma vez que os sintomas nem sempre são elucidativos. Assim, o presente trabalhC? objetivou realizar um estudo de atualização da etiologia e dos aspectos clínicos da doença. com afinalidade defomecerdados que subsidiem a escolha dos métodos adequados para a realização de um correto diagnóstico. Método: procedeu-se a uma extensa busca na Intemet e na base de dados intemacionais Medline e LlLACS, abrangendo os periódicos científicos publicados no período 2000 a 2008. dos quais foram selecionados, para revisão bibliográfica, aqueles mais importantes e de maior rigor científico acerca desta doença. Livros publicados no mesmo período também foram consultados. Conclusões: o diagnóstico, geralmente, encontra-se alicerçado nos aspectos clínicos, radiográficos, bioquímicos, genéticos e histológicos, sendo os métodos por imagem os de mais fácil obtenção, com ênfase para a radiografia convencional, em razão do baixo custo e de sua especificidade, e para a cintilografia de corpo inteiro como método de escolha para rastreamento de lesões suspeitas. devido a sI/a alta sensibilidade.

Objective: The Paget's disease, a disorder of focal bone remodeling is characterized by an excessive absorption followed by intense neoformation of the affected bone, presenting an important genetic component wifh evidence of heterogeneity. Usually found occasionally, typical of adulthood and variable treatment, the disease is able to affect several bones, simultaneously, causing deep deformities, requiring, therefore, further studies in order to clarify the diagnosis, since the symptoms are not always clear Therefore, this study aimed to update the etiology and clinical aspects of the disease, in order to provide data that subsidize the choice of methods for the establishment of a correct diagnosis. Method: There was research on the World Wide Web and the online data bases Medline and LILACS, coverillg journi published from 2000 to 2008, of which were selected for review the ones of most importance arigorous about this disease. Books published in the same period were also consulted. Conclusions: The diagnosis, generally, is based on clinical, radiographic, biochemical, genetic and histological aspects and the methods of image are easier to obtain, with emphasis on conventional radiography because low cost and its specificity, and the whole body scintigraphy as a method of choice for tracking suspicious lesions, due to its high sensitivity.

Doença de Paget do osso / Paget’s bone disease

A doença de Paget óssea é uma doença osteometabólica focal comforte componente genético caracterizada por aumento da remodelaçãoóssea que afeta um ou mais sítios do esqueleto. A doença de Pagetóssea pode ser assintomática, porém, freqüentemente, se associa ador óssea, deformidades, fratura patológica, osteoartrite secundária esurdez. A prevalência parece estar diminuindo em algumas regiões domundo. O diagnóstico é realizado habitualmente por meio de achadosradiológicos e laboratoriais. No tratamento medicamentoso, é feitauma terapia padrão utilizando bifosfonatos de última geração, como,por exemplo, o ácido zoledrônico; porém, na avaliação rotineira destespacientes, freqüentemente, não são contemplados itens de qualidadede vida e, além disso, não há reversão de complicações.

Paget's disease of bone / Doença de Paget óssea

Paget's disease of bone is a focal disorder of bone remodeling accompanied initially by an increase in bone resorption, followed by a disorganized and excessive formation of bone, leading to pain, fractures and deformities. It exhibits a marked geographical variation in its prevalence. In Brazil it predominantly affects persons of European descent. The majority of the reported cases of the disease in Brazil are from Recife, owing to its peculiar mixed European colonization over approximately four centuries. The etiology is complex and involves both genetic and environmental factors. The disease is often asymptomatic and diagnosis is usually based on biochemical markers of bone turnover, radionuclide bone scan and radiological examination. Bisphosphonates, in particular zoledronic acid, are regarded as the treatment of choice for Paget's disease of bone.

Doença de Paget óssea é uma desordem focal da remodelação óssea, inicialmente acompanhada de um aumento da reabsorção óssea, seguida de desorganizada e excessiva formação óssea, levando a dor, deformidades e fraturas. Exibe uma variável distribuição geográfica em sua prevalência. No Brasil acomete predominantemente pacientes de descendência européia. Recife, devido à sua peculiar colonização mista européia por cerca de 4 séculos, tem a maioria dos casos relatados no Brasil. A etiologia é complexa e envolve fatores ambientais e genéticos. A doença é freqüentemente assintomática e o diagnóstico é feito usualmente através dos marcadores bioquímicos do turnover ósseo associado a cintilografia óssea e dos sinais típicos do exame radiológico. Os bisfosfonatos representam o tratamento de escolha na doença de Paget óssea, particularmente o ácido zolidrônico.

Paget's disease of the bone: a report of three cases.

Paget's disease is uncommon in Asians. We present 3 patients with varying manifestations. A 50 years old lady was detected to have raised alkaline phosphatase at a routine health check-up. Isoenzyme studies confirmed its bony origin. Bone scan revealed polyostotic disease. A 65 years old male patient with known Paget's disease of 6 years duration presented with pelvic girdle pain, progressive increase in alkaline phosphatase levels and worsening bone scan. A 45 years old male was admitted with chest pain. Cardiac evaluation was normal. Bone scan picked up a cough fracture in the left 7th rib and an incidental Paget's disease of the skull. All three had elevated markers of bone metabolism in the serum and urine. With monthly intravenous pamidronate there was significant improvement in the bone markers and follow-up bone scans.

Does Paget's disease exist in India?: A series of 21 patients.

OBJECTIVE: Paget's disease of bone has been described as a few case reports from India. The aim of the present study is to document the existence of Paget's disease (PD) in India. MATERIAL AND METHODS: We describe demography, clinical manifestations, biochemical and radiological profile and the treatment outcome of 21 patients of PD. RESULTS: Mean (+/-SD) age of these patients at presentation was 49.2 +/- 17.6 years and the male to female ratio was 2.5:1. Common clinical manifestations included backache, headache and bone pains. Others were fracture, joint pain, deafness, gait ataxia, visual impairment and difficulty in biting. Two patients presented with hydrocephalus and one had recurrent paraparesis. Fifteen (71.4%) patients had polyostotic and six (28.6%) had monoostotic Paget's disease. More commonly involved bones were skull and spine (61.9%) followed by pelvis (38.1%), femur (33.3%), tibia (9%) and ulna (9%). Mean (+/-SD) serum alkaline phosphatase at diagnosis was 1514 +/- 1168 IU/L and nine months after treatment with bisphosphonates decreased to 454 +/- 406 IU/ L(P<0.03). CONCLUSION: This illustrates that Paget's disease does exist in India and a high index of suspicion is required to clinch the diagnosis.

Paget's disease of bone: experience from a centre in southern India.

BACKGROUND: Paget's disease is a localized disorder of the skeleton characterized by increased osteoclastic activity. While the prevalence in the Western Population is 1-2%, the prevalence in India is not known. We studied the clinical profile, biochemical parameters, bone scans, therapeutic details and follow up data of patients with Paget's disease, attending the Endocrinology outpatient clinic in our institution. METHODS: A retrospective review was done of the medical records of 51 patients seen in a tertiary referral centre in Southern India from 1995 to 2003.The data was analyzed using SPSS 9.0 software package. RESULTS: There were a total of 51 patients (41 male and 10 female). The mean age at presentation was 56 years and the mean duration of symptoms was 43 months. At least 6 months of follow-up was available in 31 patients and longer term (>2 years) follow-up in 22 patients. The symptoms at presentation were bone pain in 65%, low backache in 37%, skeletal deformities in 33%, pathological fractures in 20%, neurogenic claudication in 4%, deafness and head enlargement in 7% and renal stones in 4% of subjects. Five patients (9.8%) were asymptomatic and were incidentally diagnosed during evaluation of an elevated alkaline phosphatase. The mean serum alkaline phosphatase (range and SD) at the time of presentation was 690 IU/L (91-3873 U/L, 698 U/L). There was no statistically significant difference in the serum alkaline phosphatase values between female and male patients (576 U/L versus 718 U/L). Polyostotic involvement was seen in 90.2% of the patients. The pattern of skeletal involvement was very similar to that described in the Western literature. Twenty patients were started on Calcitonin and of these, 13 patients were later changed over to bisphosphonates to induce remission. In all, thirty six subjects received Alendronate and of them, 31 received lower doses (10-20mg/day). All the treated patients showed a good clinical and biochemical improvement. Two patients with severe Pagetic involvement of the bone who also had neurologic symptoms (root pains in one and cauda equina lesion in the other) needed intravenous Pamidronate to obtain a rapid response in the initial phase of treatment. CONCLUSIONS: In our series, Paget's disease had a male predominance. The clinical presentation and the pattern of skeletal involvement was similar to the Western series. Serum alkaline phosphatase declined by 40% at 6 months of therapy and by 64% by one year of treatment in patients who were on lower doses of Alendronate (10-20 mg/day) in our series, which is similar to what has been described with conventional doses (40 mg per day) in the Western series.

Quão acurado é o diagnóstico em Doença de Paget? / How sensitive is our diagnosis in Paget's Disease?

Este estudo visaa estabelecer quão acurado está o diagnóstico clínico na Doença de Paget (DP), através da análise comparativa retrospectiva dos dados de todos os pacientes atendidos de janeiro de 1981 a janeiro de 2004, com este diagnóstico inicial, no Serviço de Reumatologia do Hospital de Clínicas da Universidade Federal do Paraná - HC/UFPR. De cada paciente obteve-se: idade, sexo, duração das manifestações clínicas, sinais laboratoriais e radiológicos, complicações, incidência familiar e tratamento. Os pacientes foram, então, divididos em portadores ou não de DP. Um total de 15 pacientes foram avaliados: cinco com DP e 10 com outras doenças osteomusculares, como Displasia Fibrosa, Osteomielite Crônica, Artrose e Carcinossarcoma. A idade dos pacientes com DP foi maior (59 anos versus 34.1 anos daqueles do outro grupo). Dor e doença em coluna lombar foram, respectivamente, a principal manifestação clínica e alteração óssea em ambos os grupos. Apenas um paciente possuía história familiar de DP. Artrose e fraturas patológicas foram complicações na DP. Todos os pacientes foram inicialmente tratados com AINEs e, após o diagnóstico correto, os pacientes com DP receberam bisfosfonatos e calcitonina. Muitos pacientes referidos ao serviço não preenchiam as características clínicas, laboratoriais e radiológicas de DP. Estratégias para disseminar o conhecimento médico desta importante doença reduzirá manejo terapêutico errôneo e o próprio stress gerado ao paciente

Doença de Paget: relato de casos em relação ao diagnóstico diferencial / Paget's disease: a report of two cases in relation to differential diagnosis

A doença de Paget ou osteíte deformante é uma condição patológica não inflamatória caracterizada por defeitos no remodelamento ósseo. Sua etiologia ainda está desconhecida, embora alterações auto-imunes e/ ou infecções virais sejam sugeridas como causas. Uma vez que são relatadas altas taxas de envolvimento dos maxilares, é fundamental para o cirurgião-dentista conhecer a existência dessas lesões, sabendo como proceder para diagnosticá-las corretamente. Este estudo objetiva discutir acerca do diagnóstico diferencial desta enfermidade, comparando dois casos, além de abordar formas de tratamento e prevenção de complicações.

Quão acurado é o diagnóstico em doença de PAGET? / How sensitive is our diagnosis in Paget's disease?

Este estudo visa estabelecer quão acurado está o diagnóstico clínico na Doença de Paget (DP), através da análise comparativa retrospectiva dos dados de todos os pacientes atendidos de janeiro de 1981 a janeiro de 2004, com este diagnóstico inicial, no Serviço de Reumatologia do Hospital de Clínicas da Universidade Federal do Paraná-HC/UFPR. De cada paciente obteve-se: idade, sexo, duração das manifestações clínicas, sinais laboratoriais e radiológicos, complicações, incidência familiar e tratamento. Os pacientes foram, então, divididos em portadores ou não de DP. Um total de 15 pacientes foram avaliados: cinco com DP e 10 com outras doenças osteomusculares, como Displasia Fibrosa, Ostemielite crônica, Artrose e Carcinossarcoma. A idade dos apcientes com DP foi maior (59 anos versus 34.1 anos daqueles do outro grupo). Dor e doença em coluna lombar foram, respectivamente, a principal manifestação clínica e alteração óssea em ambos os grupos. Apenas um paciente possuía história familiar de DP. Artrose e fraturas patológicas foram complicações na DP. Todos os pacientes foram inicialmente tratados com AINES e, após o diagnóstico correto, os pacientes com DP receberam bifosfonatos e calcitonina. Muitos pacientes referidos ao serviço não preenchiam as características clínicas, laboratoriais e radiológicas de DP. Estratégias para disseminar o conhecimento médico desta importante doença reduzirá manejo terapêutico errôneo e o próprio stress gerado ao paciente

Extirpación de una lesión del cráneo radioguiada por cintigrafía y detección intraoperatoria / Localization and extirpation of a skull lesion aided by intraoperative radioguidance

La localización de una lesión de la calota craneana puede ser difícil en especial cuando es pequeña y poco evidente a nivel de la superficie externa del cráneo. En este artículo se describe la localización y extirpación guiada por cintigrafía intraoperatoria, de una lesión de 2 cm que comprometía la cara interna del hueso temporal. La expresión radiológica de la lesión en la radiología simple y en la tomografía computada era pobre. Esto hizo difícil la radiología intraoperatoria y la neuronavegación guiada por tomografía computada. En el presente caso se logró extirpar la lesión en bloque. La biopsia fue informada como "Enfermedad de Paget". No hubo complicaciones quirúrgicas.

Displasia fibrosa: reporte de 6 casos de variedad monostótica / Fibrous dysplasia: report of 6 cases of the monostotic variety

Los autores presentamos un enfoque clínico descriptivo de la displasia fibrosa, incluyendo nuestra experiencia en seis casos clínicos de diferente sexo y localización, detallando estudios y técnicas quirúrgicas realizadas

Enfermedad de Paget en Chile: una serie de 15 pacientes / Paget disease of bone in Chile: report of 15 cases

BACKGROUND: Paget disease of bone (PD) is a localized disorder of bone remodeling, which leads to bone fragility and deformity. In Chile PD is uncommon. AIM: To study clinical and demographic characteristics of patients with PD seen in the Clinical Hospital of the Catholic University. PATIENTS AND METHODS: Patients with typical radiological and clinical features of PD referred to our institution during the last decade were included in this review. RESULTS: We obtained data from 15 patients with PD (ten males, eight Chilean, six European and one Asian), eleven of them were diagnosed during the last 3 years. The mean age at diagnosis was 68.7 +/- 11.1 years old. No one had first degree relatives with PD. Bone pain was the main complaint in 13 patients and elevated total alkaline phosphatases in the other two. The average duration of the symptoms prior to diagnosis was 38.8 months. Eight patients had monostotic lesions; the most commonly involved sites were the pelvis, spine and femur. Radiological evaluation disclosed sclerotic changes in all patients as well as bone deformity and osteoarthritis in eight patients. Total alkaline phosphatases were elevated in 14 cases (mean: 4 times over the upper normal limit). CONCLUSIONS: When compared to series of the Northern hemisphere, PD in Chile is characterized by an older age at diagnosis, a higher frequency of symptomatic presentation, advanced radiological involvement and greater proportion of complications. PD should be suspected in every patient, Chilean or foreigner, with bone pain or elevated alkaline phosphatases.