Study the change of serum osteosclerotin and Dickkopf-3 expression in elderly patients with intertrochanteric fracture / 中国医师进修杂志

Objective:To investigate the changes of perioperative serum osteosclerosis protein (SOST) and Dickkopf-3 (Dkk-3) in elderly patients with femoral intertrochanteric fracture.Methods:Thirty elderly patients who underwent reduction and fixation of femoral intertrochanteric fracture in Baoding Second Hospital from May 2017 to December 2017 were prospectively selected as the observation group; 30 healthy subjects in the same period were selected as the healthy control group. Enzyme linked immunosorbent assay (ELISA) was used to detect the expression of serum SOST and Dkk-3 at 1 d before operation and at 1, 3, 5 d after operation and compared with the same period of healthy physical examination(normal control group). Spearman rank correlation analysis was used to analyze the correlation between SOST and Dkk-3 and disease activity score (ASDAS) and spinal imaging evaluation score (mSASSS).Results:There was a positive correlation between Dkk-3 level and ASDAS score in the observation group ( r = 0.331, P = 0.012); the level of SOST was negatively correlated with the scores of ASDAS ( r = - 0.162, P = 0.017). The levels of serum SOST and Dkk-3 in the observation group were lower than those in the healthy control group: 1.29(1.00, 2.40) μg/L vs. 1.96(1.63, 2.65) μg/L, (6.11 ± 1.15) μg/L vs. (9.81 ± 1.76) μg/L, P<0.05. The levels of serum SOST and Dkk-3 in the observation group increased first and then decreased on the 1st, 3rd and 5th day after operation. The level of serum Dkk-3 increased to the highest level on the 3rd day after operation, and then decreased gradually, but it was still slightly higher than that before operation. The level of serum SOST in the observation group increased to the highest level 1st day after operation, and decreased at 3rd and 5th day after operation. The perioperative serum levels of SOST and Dkk-3 in the observation group were positively correlated, the correlation coefficient was the largest at 1 day after operation ( r = 0.571) and the lowest before operation ( r = 0.119). Conclusions:The perioperative serum levels of SOST and Dkk-3 in elderly patients with femoral intertrochanteric fracture increased first and then decreased. The change of serum SOST level is more sensitive and can be used as a sensitive index to reflect the change of osteogenic ability.

Two cases with pycnodysostosis in a family: a case report

Pycnodysostosis (Greek, pycnos - density, dys - defect, ostosis - bone) is a rare inherited disorder of the bone, first described by Maroteaux and Lamy. Pycnodysostosis is an autosomal recessive disorder, with incidence estimated to be 1.7 per 1 million births. Clinical presentation of this disorder include short stature, dolichocephalic skull, frontal bossing, obtuse mandibular angle, dysplastic clavicles, and short hands and feet, diffuse osteosclerosis, acro-osteolysis along with the finger and nail abnormalities. The main oral aspects are midfacial hypoplasia, a grooved palate, and dental abnormalities include double row of teeth, delayed eruption of permanent dentition, multiple caries. Pathological fractures of the bones occur due to sclerosis. Radiologically, skull bones appear thickened with open fontanels which look like 'lakes of bones', hypoplasia of facial bones, generalized osteosclerosis, open fontanels and cranial sutures, non pneumotization of paranasal sinuses, and fractures commonly in lower limbs.

One family with osteosclerosis caused by D111Y mutation in the low-density lipoprotein receptor-related protein 5 gene / 中华内分泌代谢杂志

Objective@#To investigate the clinical features and pathogenic genes of a family with osteosclerosis.@*Methods@#Six patients and six family members from a family in Jiangsu were tested for biochemical parameters, bone metabolic markers, bone mineral density, thoracolumbar anterior lateral slices, skull positive lateral radiographs, and pelvic plain films. Meanwhile, Sanger sequencing was performed to detect gene mutations of the proband and five other family members with high bone mass. The conformation of the mutational low-density lipoprotein receptor-related protein 5 (LRP5) protein was predicted by SWISS-MODEL.@*Results@#Four adult patients (one male and three females) were tall, with mandibular enlargement and kyphosis in the center of the lower jaw, and none of the four had fractures. Their X ray examination revealed that the skull and long bone cortex was thickened, while the sella and mandible was enlarged. In addition, the absolute values of bone mineral density at each site of all patients were significantly higher as compared with the standard age- and sex-matched adults or adolescent mean reference values, with Z scores of L2-4, femoral neck and total hip being (6.31±4.03) SD, (6.56±2.36) SD, and (7.19±2.03) SD, respectively. The results of genetic sequencing revealed that all six patients carried a heterozygous mutation (c.331G>T; D111Y) in exon 2 of LRP5 gene, while other family members showed wild type (c.331G>G; D111D). Functional prediction indicated that this mutation was located at the amino acid terminal of exon 2 of LRP5 gene, which encodes the first β-helix-generating region of LRP5 protein.@*Conclusion@#The D111Y mutation in LRP5 gene leads to a clinical phenotype characterized by benign increased bone mineral density without increasing the risk of fracture. This mutation may further affect the downstream Wnt signaling pathway by altering the spatial structure of LRP5 protein, thereby promoting maturation and differentiation of osteoblasts and resulting in osteosclerosis.

Osteopetrosis infantil maligna / Malignant Infantile osteopetrosis

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.

Extensive hyperdense zone in the mandible: a case report

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.

Maxillomandibular giant osteosclerotic lesions

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.

Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis

BACKGROUND: Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenic mutation in a Korean patient with ADO II using whole exome sequencing. METHODS: We evaluated the clinical, biochemical, and radiographic analysis of a 68-year-old woman with ADO II. We also performed whole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphism phenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutation on protein function. RESULTS: Whole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in the CLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogenic effect by PolyPhen-2 software. CONCLUSION: We detect a heterozygous mutation in CLCN7 gene of a patient with ADO II, which is the first report in Korea. Our present findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a very late age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.

Tratamiento de la osteítis condensante en molar: informe de caso / Molar condensing osteitis treatment: Case report

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.

Prevalence of idiopathic osteosclerosis in an Iranian population.

Aim: Idiopathic osteosclerosis (IO) is a localized radiopacity with no associated pain, bony expansion, symptom, or known etiology. The aim of this study was to assess its frequency and distribution according to its location and patient's age and gender and internal structure using panoramic radiography. Subjects and Methods: In this retrospective study, 3975 panoramic radiographs (PRs) were used. Radiopaque regions which had no certain relationship to any known sources of hard tissue production were accepted as IO and characteristics such as shape, location, internal structure, and personal information were investigated. Statistical Analysis Used: The obtained data were evaluated using SPSS software and Chi-square test. Results: IO was found in 113 (2.84%) out of 3975 patients. The most frequent site was the posterior region of mandible. There was no significant difference in the incidence of IO between genders (P = 0.766). Conclusion: IO is an asymptomatic radiopaque mass commonly seen in PR, which was found mostly in the first molar region of mandible. Furthermore, its maximum frequency was in the second decade.

Fracturas múltiples de huesos largos en una escolar portadora de picnodisostosis: Reporte de caso / Multiple long bone fractures in a child with pycnodysostosis: A case report

Las fracturas en edad pediátrica son una entidad importante para considerar. Hay enfermedades en que los huesos del niño se fracturan ante traumatismos de menor energía. La picnodisostosis es un tipo inusual de displasia cráneo-metafisaria autosómica recesiva, cuya primera manifestación clínica suele ser una fractura en hueso patológico. Se presenta a una paciente, caucásica, de 9 años de edad, con diagnóstico de picnodisostosis, que ingresó al hospital por fractura del fémur derecho, por un mecanismo de baja energía. Los estudios radiográficos mostraron fracturas del fémur bilateral, fractura proximal de la tibia izquierda y consolidación viciosa en antecurvatum. Esta rara enfermedad se diagnostica a edades tempranas por talla baja, por fracturas repetidas o por traumas de baja energía. Las opciones terapéuticas son limitadas, y no se ha desarrollado una cura definitiva. Es importante, ante un paciente pediátrico con rasgos dismórficos faciales y fracturas en hueso patológico, sospechar displasias óseas, tales como la picnodisostosis y sus diagnósticos diferenciales.

Fractures are an important entity to consider in pediatric patients. There are certain diseases in which bones fracture with a minimal trauma. Pycnodysostosis is an autosomal recessive unusual type of cráneo metaphyseal dysplasia, that presents frequently as fracture in a pathological bone. A 9 year old caucasian female, diagnosed with pycnodysostosis, was admitted with a right femur fracture as a result of a low energy trauma. Radiographic studies showed bilateral femur fractures, proximal fracture and non-union in antecurvatum of the left tibia. Pycnodysostosis is a rare disease, generally diagnosed at an early age by growth restriction, frequent fractures or fractures with low energy trauma. Therapy alternatives are limited, and no permanent cure has been developed. If a patient has dysmorphic facial features and fractures in a pathological bone, it is important to suspect bone dysplasia, such as pycnodysostosis and its differential diagnoses.

A First Case of Osteomesopyknosis in Korea

Osteomesopyknosis is a rare sclerosing bone disorder of autosomal dominant inheritance. We report a first case of osteomesopyknosis in Korea. A 16-year old girl complained of diffuse back pain for 1 year. We performed physical examination, biochemical investigations and imaging studies. A radiograph of spine revealed rugger-jersey vertebra and sandwich vertebra. Bone specific alkaline phosphatase, osteocalcin and C-terminal telopeptides of type I collagen were normal. Only an axial skeleton involvement was shown on the whole body bone scan. This patient was diagnosed to have osteomesopyknosis. Osteomesopyknosis is characterized by normal level of bone turnover marker and an axial bone involvement. Osteomesopyknosis can be occurred in Korea and needs to be considered when patients, especially young patients, suffer from back pain and have only axial osteosclerosis.

Doença de Erdheim-Chester / Erdheim-Chester Disease

A Doença de Erdheim-Chester é uma histiocitose não Langerhans rara e de incidência ainda desconhecida. Caracteriza-se por lesões osteoescleróticas de ossos longos podendo, também, infiltrar tecidos extraesqueléticos como coração, pulmões, olhos e retroperitônio. É relatado o caso de uma paciente portadora de Doença de Erdheim-Chester tratada no Hospital de Clínicas de Porto Alegre (AU)

Erdheim-Chester disease is a rare form of non-Langerhans histiocytosis whose incidence remains unknown. Characterized by osteosclerotic lesions in long bones, it can also penetrate such extraskeletal tissues as heart, lungs, eyes and retroperitoneum. Here we report the case of a female patient with Erdheim-Chester disease treated at the Hospital de Clínicas of Porto Alegre (AU)

Raine syndrome.

Raine syndrome is a rare genetic disorder with characteristic features of exophthalmos, choanal atresia or stenosis, osteosclerosis and cerebral calcifications. Most of babies with this disorder die immediately after birth. We report a baby who was 7 weeks old at the time of presentation.

Osteomyelitis in an Osteopathia Striata with Cranial Sclerosis Patient / 대한악안면성형재건외과학회지

Osteopathia striata with cranial sclerosis (OS-CS) is characterized by linear bone dysplasia at the long bone radiographically and sclerotic change at the cranium. The purpose of this case report is to study the symptoms and treatments of osteomyelitis in a patient with OS-CS. A 41-year-old patient had pus discharge from a fistula at the mental region and increase in radiolucencies with sequestra in panoramic radiograph images. Computed tomography (CT) as well as radiograph images for the whole skeleton were taken. The patient was diagnosed with OS-CS. Sequestrectomy and fistulectomy were performed. The patient recovered and no relapse occurred within six months after surgery. For diagnosis of OS-CS, CT and additional radiograph images for the whole skeleton are required. Because of the increased bone density, this patient is prone to relapse after sequestrectomy. Therefore, the surgeon must minimize trauma with the least incision and exfoliation, and preoperative antibiotics.

Intramedullary Osteosclerosis Mimicking Lower Leg Radiating Pain / 대한정형외과학회잡지

Intramedullary osteosclerosis is an uncommon benign condition characterized by endosteal new bone formation in long tubular bone of lower extremity and treatment as well as etiology is unknown. Due to the rarity of this disease, and because there is no specific clinical finding except leg pain, it is difficult to differentiate this entity from other causes presenting similar symptoms. We report on a case of intramedullary osteosclerosis mistaken for radiculopathy from lumbar disease with a review of the literature.

Melorheostosis: A case report / Melorreostose - apresentacao de um caso

Melorheostosis is a rare disease (0.9/million habitants), characterized by linear hyperostosis along the cortex bone. It can affect any bone, being more frequent in long bones. The lesions tend to be segmental and unilateral. The etiology remains unknown although several theories proposed over the past year (vascular, inflammatory processes, embryonic defects or genetic). Show no significant difference between sexes or heredity. Clinical manifestations are mainly pain, deformity and joint stiffness. The diagnosis is obtained by combining the clinical findings with imaging studies (mainly radiography with typical image in "candle wax"). There is no definitive or specific treatment, being always palliative. We describe a case of a patient of twenty-four years, followed in Orthopedic consultation since age eight, with a deformity of the right side of the body. X-rays showed hyperostosis of the bones of the limbs in the right side of the body (image in "candle wax"). The patient is in physical therapy program and has a positive response to analgesia with ibuprofen.

A melorreostose é uma doença rara (0,9/milhão de habitantes), caraterizada por hiperostose linear ao longo do córtex ósseo. Pode afetar qualquer osso, mas é mais frequente nos ossos longos. As lesões tendem a ser segmentares e unilaterais. A etiologia permanece desconhecida, apesar de várias teorias propostas ao longo dos últimos anos (alterações vasculares, processos inflamatórios, defeitos embrionários ou genéticos). Não apresenta diferença significativa entre sexos ou hereditariedade. As manifestações clínicas são principalmente a dor local, a deformidade e a rigidez articular. O diagnóstico é obtido pela conjugação da clínica com os exames imagiológicos (principalmente radiografia com imagem típica em "cera derretida"). Não existe tratamento definitivo ou específico, é sempre paliativo. Descreve-se um caso clínico de um doente de 24 anos, seguido em consulta externa de ortopedia desde os 8 anos, por deformidade do hemicorpo direito. O RX revelou hiperostose dos ossos dos membros do hemicorpo direito (imagem em "cera derretida"). O doente encontra-se em vigilância clínica e em programa de fisioterapia com resposta positiva à analgesia com ibuprofeno.

Advancements in the knowledge of induced tooth movement: idiopathic osteosclerosis, cortical bone and orthodontic movement / Avanços no conhecimento da movimentação dentária induzida: osteoesclerose idiopática, corticais ósseas e o movimento ortodôntico

Moving teeth orthodontically through the dense trabecular bone and cortical areas may require a reduction in the intensity and/or concentration of the applied forces. In part, the orthodontic applied forces are dissipated and reduced by bone deflection, which normally occurs by a slight degree of elasticity of bone tissue in normal conditions. In areas of dense trabecular and in cortical bone this deflection should be insignificant or nonexistent. If there is no reduction in the intensity of the forces in these mentioned regions, the entire force will focus on the structure of the periodontal ligament, increasing the risk of death of cementoblasts, hyalinization and root resorption. Further studies could assess the prevalence of these consequences in populations selected for this purpose, so that would no longer be randomly observed notes.

Movimentar ortodonticamente os dentes por áreas densas do trabeculado ósseo e pelas corticais pode requerer uma redução na intensidade e/ou na concentração das forças aplicadas. Em parte, as forças ortodônticas aplicadas são dissipadas e reduzidas pela deflexão óssea que ocorre pelo discreto grau de elasticidade do tecido ósseo em condições de normalidade. Nas áreas de trabeculado denso e nas corticais, essa deflexão deve ser irrisória ou inexistente. Se não houver uma redução na intensidade das forças nessas regiões citadas, toda a força incidirá sobre a estrutura do ligamento periodontal, aumentando o risco de morte dos cementoblastos, hialinização e reabsorções radiculares. Novos trabalhos poderiam avaliar a prevalência dessas consequências em casuísticas selecionadas para essa finalidade, que, assim, deixariam de ser observações aleatórias.

A Case of Erdheim-Chester Disease with Asymptomatic Renal Involvement / Journal of the Korean Cancer Association, 대한암학회지

Erdheim-Chester disease is a rare non-Langerhans-cell histiocytosis involving bones and multiple organs. Its clinical course can vary, from an asymptomatic state to a fatal disease, with renal involvement being a common cause of death. A 41-year-old man presented with a 10-month history of bilateral lower limb pain. Left perirenal soft-tissue infiltration had been found incidentally two years earlier. No progression of the lesion or deterioration of renal function was observed for a period of two years. At admission, plain radiography and magnetic resonance imaging of the patient's lower limbs showed patchy osteosclerosis. Biopsy of the tibia revealed histiocytic infiltration, which was found to be positive for CD68 and negative for CD1a. This report describes an unusual case of Erdheim-Chester disease involving a stationary course of disease with no specific treatment for a long period of time.

Osteopoiquilosis y síndrome de Buschke-Ollendorf: Reporte de caso y revisión de la literatura / Osteopoikilosis and Buschke-Ollendorf Syndrome: Case report and review of the literature

Introducción: La osteopoiquilosis es una displasia ósea esclerosante poco frecuente, su diagnóstico es generalmente incidental en radiografías que muestran múltiples áreas escleróticas en diversos huesos del esqueleto. Caso clínico: En este artículo se presenta un paciente masculino de 58 años con lesiones radiológicas características en fémur, pelvis, cráneo y con compromiso cutáneo atendido en el Hospital Universitario de Santander. Discusión: Esta enfermedad es de transmisión autosómica dominante y es causada al parecer por una mutación con pérdida de función del gen LEMD3. Ocasionalmente se encuentra asociada a lesiones en piel denominándose síndrome de Buschke-Ollendorf como ocurre en el presente caso.Su importancia radica en la posibilidad de confundirla con lesiones tumorales metastásicas llevando a intervenciones innecesarias. Salud UIS 2011; 43 (3): 321-326.

Introduction: Osteopoikilosis is a rare sclerosing bone dysplasia, its diagnosis is usually incidental on radiographs showing multiple sclerotic areas in diferent bones of the skeleton. Case report: This article presents a 58 year old male patient with characteristic radiographic lesions in the femur, pelvis, skull and a with cutaneous involvement treated at the Hospital Universitario de Santander. Discussion: This disease is autosomal dominant and is apparently caused by a loss of function mutation of the gene LEMD3. Is occasionally associated with skin lesions, which are called Buschke-Ollendorf syndrome as in this case. Its importance lies in the possibility of confusion with metastatic tumor lesions leading to unnecessary interventions. Salud UIS 2011; 43 (3): 321-326.

Enfermedades osteocondensantes con compromiso de huesos largos: presentación de dos casos y revisión de la literatura / Sclerosing bone diseases with involvement of long bones: report of two cases and literature review

Las enfermedades osteocondensantes son un grupo de patologías poco frecuentes que se caracterizan por aumento de la masa ósea, comprometiendo tanto a huesos largos como a huesos planos. Tradicionalmente, la radiología simple ha permitido su diagnóstico al identificar patrones de afectación ósea característicos de cada enfermedad. Actualmente, la caracterización molecular y genética ha facilitado la comprensión del sustrato fisiopatológico y la expresión fenotípica de estás patologías, sin embargo, la radiología simple continua teniendo un valor inconmesurable en el reconocimiento de las enfermedades osteocondensantes.

Sclerosing bone disorders are a rare group of diseases characterized by increased bone mass in both long and flat bones. Traditionally, plain radiography has allowed the diagnosis of these diseases identifying characteristic patterns of bone involvement. At present, the molecular and genetic characterization of these diseases has provided a better understand of their pathophysiology and phenotypic expression, however plain radiography continues to have an important role in the recognition of sclerosing bone disorders.