Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2.

Introduction: Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disease caused by mutations in genes responsible for the formation and development of adipocytes. Bone abnormalities are described. However, there is a scarcity of data. Objective: To describe bone characteristics in a large CGL1 and 2 case series. Methods: Cross-sectional study that assessed bone radiological features of CGL patients of a reference hospital in Fortaleza (CE), Brazil. Patients underwent clinical and bone mineral metabolism evaluation, radiographs of the axial and appendicular skeleton and bone mineral density (BMD) assessment by DEXA (dual energy X-ray absorptiometry). Results: Nineteen patients were included, fourteen were CGL1 and 5, CGL2. Median age was 20 years (8-42) and 58% were women. Median BMI and percentage of body fat were, respectively, 21 Kg/m² (16-24), and 10.5% (7.6-15). The median leptin concentration was 1 ng/mL (0.1-3.3). Diabetes mellitus and dyslipidemia were present in 79% and 63% of patients, respectively. Median calcium and phosphate were normal in almost all patients (95%). Median parathyroid hormone and 25-OH-vitamin D were 23 pg/mL (7-75) and 28 ng/mL (18-43). Osteolytic lesions, osteosclerosis and pseudo-osteopoikylosis, were present in 74%, 42% and 32% of patients, respectively. Lytic lesions were found predominantly in the extremities of long bones, bilaterally and symmetrically, spine was spared. Osteosclerosis was present in axial and appendicular skeleton. Pseudo-osteopoikilosis was found symmetrically in epiphyses of femur and humerus, in addition to the pelvis. BMD Z-score greater than +2.5 SD was observed in 13 patients (68.4%). BMD was higher in CGL1 compared to CGL2 in lumbar spine and total body in adults. No associations were found between high BMD and HOMA-IR (p=0.686), DM (p=0.750), osteosclerosis (p=0.127) or pseudo-osteopoikilosis (p=0.342), and, between pain and bone lesions. Fractures were found in 3 patients. Conclusion: Bone manifestations are prevalent, heterogeneous, and silent in CGL1 and CGL2. Osteolytic lesions are the most common, followed by osteosclerosis and pseudo-osteopoikilosis. Bone mass is high in most cases. There was no pain complaint related to bone lesions. Thus, systematic assessment of bone manifestations in CGL is essential. Studies are needed to better understand its pathogenesis and clinical consequences.

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

Osteopoiquilia. A propósito de un caso / Osteopoikilosis. A case report

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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)

Una radiografía con sorpresa: osteopoiquilosis / An X-ray with a suprise: osteopoikilosis

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Osteopoiquilia / Osteopoikilosis

La osteopoiquilia es una displasia osteoesclerótica poco común. Es un trastorno genético raro pero benigno con transmisión genética autosómica dominante, caracterizado por múltiples áreas hiperostóticas, simétricas, pero con desigual distribución en diferentes partes del esqueleto. Generalmente es una enfermedad ósea asintomática que se desarrolla durante la infancia y persiste a lo largo de la vida. No hay evidencias exactas de su etiología y patogénesis. El diagnóstico suele ser incidental al realizar radiografías las cuales muestran múltiples y pequeñas áreas escleróticas, bien definidas, de forma variable y ampliamente distribuidas por el esqueleto. Se pueden confundir con otras entidades como metástasis osteoblásticas, así que la osteopoiquilia debe estar en el diagnóstico diferencial cuando identificamos lesiones óseas en la radiografía simple para evitar alarmar al paciente con un error diagnóstico o enfermedades más serias (AU)

Osteopoikilosis is an uncommon osteosclerotic dysplasia. It is a rare and benign autosomal dominant genetic disorder, characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. It is usually an asymptomatic bone disease that develops during childhood and persists throughout life. There is no exact evidence of its etiology and pathogenesis. Diagnosis is made incidentally from radiographs, which show multiple small, well defined, variably shaped and widely distributed sclerotic areas over the skeleton. It may be confused with other conditions, such as osteoblastic metastases. So, osteopoikilosis must be present in differential diagnosis when bone lesions are identified on plain radiographs to avoid alarming the patient with more serious diseases and misdiagnosis (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-Ollendorff / Buschke-Ollendorff syndrome

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Osteopoiquilia con afectación de la columna vertebral, una presentación atípica / Osteopoikilosis with involvement of the spine, an atypical presentation

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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: un importante problema diagnóstico solucionado con una gammagrafía ósea / Osteopoikilosis: a major diagnostic problem solved by bone scintigraphy

La osteopoiquilia es una enfermedad rara aunque benigna de etiología desconocida que puede causar problemas diagnósticos cuando se hace diagnosis por imágenes del sistema esquelético por diferentes motivos como la malignidad. Presentamos dos casos clínicos con osteopoiquilia en las cuales las dificultades para el diagnóstico final de los casos se solucionaron con la contribución de la gammagrafía ósea y el seguimiento clínico(AU)

Osteopoikilosis (OPK) is a rare disease with an unknown etiology. Although a benign condition, it may lead to diagnostic problems when the patient undergoes diagnostic imaging of the skeletal system due to various reasons like malignancy. Herein, we report 2 cases with OPK causing difficulties in the final diagnosis of the cases which was resolved with the contribution of bone scintigraphy and clinical follow-up(AU)