Osteopoiquilose: comparação entre a radiografia e a ressonância magnética / Osteopoiquilosis: comparison between radiography and magnetic resonance

A osteopoiquilose é uma displasia osteosclerótica rara que mostra uma transmissão autossômica dominante e tem características radiológicas específicas que não apresenta clínica específica; o diagnóstico é feito por achados radiológicos incidentais típicos em pacientes que procuram tratamento para outros problemas médicos. A osteopoiquilose pode ser confundida com metástases osteoblásticas, esclerose tuberosa e mastocitose óssea. Relatamos uma mulher de 37 anos queixando-se de dor e edema no punho há 20 dias. A paciente foi submetida a avaliação com ressonância magnética, apresentando ossos do carpo e regiões epifisárias do rádio e ulna, além de metacarpos e algumas falanges, com diversos focos escleróticos dispersos. Em seguida, para nova avaliação, a paciente realizou radiografias de joelhos, ombros e punhos, confirmando os focos escleróticos encontrados na ressonância magnética, confirmando o diagnóstico de osteopoiquilose

Osteopoikilosis is a rare osteosclerotic dysplasia that shows an autosomal dominant transmission and has characteristic radiological features, there are no specific clinical features; diagnosis is made by incidental typical radiological findings in patients seeking treatment for other medical problems. Osteopoikilosis can be confused with osteoblastic metastases, tuberous sclerosis, and bone mastocytosis. We report a 37-years-old woman, complaining of pain and swelling in the wrist 20 days ago. The patient submitted to MRI for evaluation, showing carpal bones and epiphyseal regions of radius and ulna, as well as metacarpal and some phalanges, presenting several scattered sclerotic foci. After that for further evaluation, the patient was referred for radiographs of the knees, shoulders, and wrists, confirming the sclerotic foci found in MRI, confirming the diagnosis of osteopoikilosis

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)

Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis

Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-β pathways. We report the case of a 19-year-old man presenting with lower back pain and sciatica. His radiograph revealed bilateral and symmetrical multiple osteosclerotic bone lesions in both scapular areas. Sanger sequencing of LEMD3 revealed a four-base-pair deletion in intron 2 (c.1560+3_1560+6del), which was inherited from his father. We found that this four-base-pair deletion in intron 2 causes aberrant splicing and consequent deletion of exon 2. To the best of our knowledge, this is the first report of genetically confirmed osteopoikilosis in Korea.

Elastoma: clinical and histopathological aspects of a rare disease

Abstract Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease.

Imaging diagnosis of osteopoiknosis: a report of 6 cases in four generations of one family and 3 sporadic cases / 中国骨伤

<p><b>OBJECTIVE</b>To analyze the imaging features of osteopoikilosis and its diagnosis knowledge.</p><p><b>METHODS</b>The imaging data of 9 patients with osteopoikilosis were analyzed retrospectively, including 6 familial cases and 3 sporadic cases. In 6 familial cases,there were 4 males and 2 females with an average age of 28 years old ranging from 10 to 63 years. Clinical manifestations of 1 familial case were left knee pain and limitation of activity for 3 years, and other 5 cases without clinical manifestation. In 3 sporadic cases, there were 2 males and 1 female with an average age of 33.7 years old ranging from 25 to 44 years. Three sporadic cases had obvious injury history with following up from 6 to 12 months. All imaging results of 9 cases were observed.</p><p><b>RESULTS</b>The imaging data of 6 familial osteopoikilosis showed the multiple round or oval nodes within bone with clear margins, uniform density, different size. The occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and carpus and tarus. X-ray features of 3 sporadic osteopoikilosis were similar to that of 6 familial cases and for 6 to 12 months follow-up X-ray features were unchanged.</p><p><b>CONCLUSION</b>The imaging features of osteopoikilosis are relatively specific such as the multiple mottling dense focal within bone with clear border and bilateral symmetry, and the focus located on cancellous bone and the diaphyses usually is unaffected. The imaging is a valuable examination for the accurate diagnosis of osteopoikilosis.</p>

A comparative assessment of avoidable blindness and visual impairment in seven Latin American countries: prevalence, coverage, and inequality / Una evaluación comparativa de la ceguera y la deficiencia visual evitables en siete países latinoamericanos: prevalencia, cobertura y desigualdades

Objective. To conduct a comparative analysis of social inequalities in eye health and eye health care and generate baseline evidence for seven Latin American countries as a benchmarking exercise for monitoring progress toward three goals of the regional Plan of Action for the Prevention of Blindness and Visual Impairment: increasing eye health service coverage, minimizing barriers, and reducing eye health-related disease burden. Methods. Results from cross-sectional eye health surveys conducted in six Latin American countries (Argentina, El Salvador, Honduras, Panama, Peru, and Uruguay) from 2011 to 2013 and recently published national surveys in Paraguay were analyzed. The magnitude of absolute and relative inequalities between countries in five dimensions of eye health across the population gradient defined by three equity stratifiers (educational attainment, literacy, and wealth) were explored using standard exploratory data analysis techniques. Results. Overall prevalence of blindness in people 50 years old and older varied from 0.7% (95% CI: 0.4-1.0) in Argentina to 3.0% (95% CI: 2.3-3.6) in Panama. Overall prevalence of visual impairment (severe plus moderate) varied from 8.0% (95% CI: 6.5-11.0) in Uruguay to 14.3% (95% CI: 13.9-14.7) in El Salvador. The main reported cause of blindness was unoperated cataract and most cases of visual impairment were caused by uncorrected refractive error. Three countries had cataract surgical coverage of more than 90% for blind persons, and two-thirds of cataract-operated patients had good visual acuity. Conclusions. Blindness and moderate visual impairment prevalence were concentrated among the most socially disadvantaged, and cataract surgical coverage and cataract surgery optimal outcome were concentrated among the wealthiest. There is a need for policy action to increase services coverage and quality to achieve universality.

Objetivo. Realizar un análisis comparativo de las desigualdades sociales en materia de salud ocular y atención oftálmica, y generar datos probatorios de referencia de siete países latinoamericanos como un ejercicio de evaluación comparativa para vigilar el progreso hacia tres metas del Plan de Acción para la Prevención de la Ceguera y la Deficiencia Visual Evitables: el aumento de la cobertura de los servicios de salud ocular, la reducción al mínimo de las barreras y la disminución de la carga de morbilidad relacionada con la salud ocular. Métodos. Se analizaron los resultados de las encuestas transversales de salud ocular realizadas en seis países latinoamericanos (Argentina, El Salvador, Honduras, Panamá, Perú y Uruguay) desde el 2011 al 2013, y las encuestas nacionales del Paraguay recientemente publicadas. Mediante el empleo de técnicas ordinarias de análisis exploratorio de datos, se investigó la magnitud de las desigualdades absolutas y relativas entre países en cinco dimensiones de la salud ocular a través del gradiente poblacional definido por tres variables de estratificación de equidad (logro educativo, alfabetización y riqueza). Resultados. La prevalencia general de la ceguera en personas de 50 años de edad o mayores varió de 0,7% (intervalo de confianza (IC) de 95%: 0,4-1,0) en Argentina a 3,0% (IC95%: 2,3-3,6) en Panamá. La prevalencia general de la deficiencia visual (grave y moderada) varió de 8,0% (IC95%: 6,5-11,0) en Uruguay a 14,3% (IC95%: 13,9-14,7) en El Salvador. La principal causa notificada de ceguera fue la catarata no operada, mientras que la mayor parte de los casos de deficiencia visual fueron causados por un error de refracción no corregido. Tres países tenían una cobertura quirúrgica de la catarata de más de 90% para las personas ciegas, mientras que dos terceras partes de los pacientes operados de cataratas mostraban una buena agudeza visual. Conclusiones. Las prevalencias de la ceguera y la deficiencia visual moderada se concentraban en las personas más desfavorecidas socialmente, mientras que la cobertura quirúrgica de la catarata así como los resultados óptimos de esta intervención se concentraban en los más adinerados. Son necesarias acciones políticas para aumentar la cobertura y la calidad de los servicios con objeto de alcanzar la universalidad.

Síndrome de Buschke-Ollendorf: reporte de un caso y revisión de la literatura / Buschke-Ollendorf syndrome: a case report and literature review

El Síndrome de Buschke-Ollendorf es una rara entidad, descrita por primera vez en 1928. Se caracteriza por la asociación de nevos del tejido conjuntivo y osteopoiquilia. Es una patología de origen multifactorial. Causas genéticas han sido descritas. Dado que es una enfermedad benigna y que no se ha demostrado asociación con otras patologías, no requiere tratamiento y tiene buen pronóstico. Su importancia radica en el diagnóstico diferencial respecto de otras patologías complejas y severas. Se presenta el caso de una niña de 8 años de edad, que presenta desde los 2 años lesiones papulares en región glútea y zona lumbar izquierda, cuyo estudio histológico evidencia nevos de tejido conectivo. Presenta estudio radiológico que muestra la presencia de imágenes sugerentes de osteopoiquilia en fémur y cadera. La asociación de ambas entidades clínicas configura el diagnóstico de Síndrome de Buschke-Ollendorf. Se presenta el caso clínico y revisión de la literatura.

The Buschke-Ollendorf syndrome is a rare entity, first described in 1928 and is characterized by the association of connective tissue nevi and osteopoikilosis. It´s a disease of multifactorial origin. Genetic causes have been described. Since it is a benign disease and no association with other diseases have been proved, it doesn´t require treatment and has a good prognosis. It´s importance lies in the differential diagnosis with other complex and severe pathologies. We present the case of an 8-year-old girl with long lasting papular lesions in left buttock and lower back, which histological study showed connective tissue nevi. The radiological study showed suggestive images of osteopoikilosis in femur and hip. The association of both clinical entities suggest the diagnose of Buschke-Ollendorf syndrome. Clinical case and review of the literature is presented.

Osteopoiquilosis: reporte de un caso y revisión bibliográfica / Osteopoikilosis: report of a case and review of the current literature

Paciente masculino de diecinueve años de edad, proveniente de Guápiles, con antecedente de tortículis congénita y urolitiasis obstructiva a repetición, con un cuadro clínico de varios meses de evolución de dolor en miembros inferiores, fue referido por lesiones enostóticas simétricas en ambas caderas y articulaciones sacroiliacas, como hallazgos incidentales de un estudio de pielograma intravenoso. Radiografías de cadera y rodilla mostraron lesiones escleróticas simétricas, características de osteopoiquilosis. El estudio de gamagrafía óseo descarta hallazgos óseos patológicos. Se descarta también cualquier otra condición asociada que pueda requerir tratamiento médico. Además, su condición ósea no requiere ningún tipo de intervención.

Osteopoiquilia: comunicación de un caso clínico / Osteopoikilosis: report of one case

Osteopoikilosis is an infrequent sclerotic bone dysplasia with discrete spherical areas of increased bone density. It has an autosomal, dominant inheritance with variable penetrance. It a diagnosed by the observation of characteristic images on x-ray films. Despite its lack of pathological importance, it must be distinguished from osteoblastic bone metastases, tuberose sclerosis, mastocytosis or sarcoidosis. We report a 23 years old male who presented a right ankle sprain. X-ray films showed important lesions in the trabecular bone of the tarsus, metatarsus and phalanges, as numerous small foci of osteosclerosis. The study was complemented with a pelvis, femur and a hand radiological study with similar findings. These findings led to the diagnosis of osteopoikilosis. Among his family members, x-ray films showed that the mother also carried the disease.

Non-Familial Osteopoikilosis around the both Hip Joints: a Case Report

Osteopoikilosis is an osteosclerotic dysplasia of an unknown origin, and this malady is both extremely rare and hereditary and sporadic in nature. It is sometimes asymptomatic and incidentally diagnosed with radiologic images. A familial history and concomitant disease might also be present. In this study, we report on a 31-year-old woman who suffers from pelvic pain and she was diagnosed as having osteopoikilosis around both hip joints by the radiological images. We also review the relevant medical literature.

Innumerable Small Bony Nodular Sclerotic Lesions with Negative Findings on Both Bone Scintigraphy and F-18 FDG PET : Osteopoikilosis in a Patient of Breast Cancer / 핵의학분자영상

Osteopoikilosis is a rare, benign hereditary disease, which presents multiple osteosclerotic, and small round nodules in the bone. It is usually detected incidentally by radiological examination. A radionuclide bone scintigraphy is essential in distinguishing osteopoikilosis from osteoblastic metastases, because scintigraphic findings are usually normal in patients with osteopoikilosis. However, there have been no reports about F-18 fluorodeoxyglucose (FDG) PET findings in osteopoikilosis. Herein, we wish to report a case of osteopoikilosis with breast cancer, which could not be seen in either bone scintigraphy or F-18 FDG PET/CT.

Osificación heterotópica coincidiendo con osteopoiquilia / Heterotopic ossification in coincidence with osteopoikilosis

La osificación heterotópica es la neoformación de hueso que ocurre en los tejidos que normalmente no sufren tal proceso y debe diferenciarse de la calcificación patológica de las partes blandas. Por otro lado, la osteopoiquilia forma parte de las displasias esclerosantes del hueso, grupo de anomalías del desarrollo que reflejan disturbios en la formación y modelaje, más comúnmente resultan de errores congénitos en el metabolismo. Presentamos con este caso, la casual concurrencia de osteopoiquilosis con la osificación heterotópica del soleus derecho.

The heterotopic ossification is the formation of bone in tissues that usually don't suffer this process, and should be differentiated of pathologic calcification of the soft tissues. On the other hand, osteopoikilosis is one of the sclerosing dysplasias of bone, a poorly understood group of developmental anomalies that reflect disturbances in bone formation and modeling, most commonly resulting from inborn errors in metabolism. We present the coincidence of osteopoikilosis and the right soleus heterotopic ossification.

Osteopoiquilose: apresentação de um caso e revisão da literatura / Osteopoikilosis: a case report and review of the literature

Os autores relatam o caso de uma paciente portadora do HIV e tuberculose pulmonar, na qual foram observadas alterações ósseas compatíveis com osteopoiquilose. A osteopoiquilose foi diagnosticada por acaso. São mostradas imagens do estudo por radiologia convencional e tomografia computadorizada, e breve revisão da literatura. Que seja do nosso conhecimento, trata-se do primeiro relato desta associação de doenças.

Osteopoiquilose: relato de caso e revisäo da literatura / Osteopoikilosis: a case report and literature review

Os autores apresentam um caso de osteopoiquilose, doença óssea rara, benignas e geralmente diagnosticada pelas imagens características de exame radiológico realizado ao acaso. A importância do diagnóstico dessa patologia é diferenciá-la de doenças ósseas mais graves, o que os autores fazem através de uma revisao bibliográfica e relato do caso.