Pain and fatigue in adult patients with multiple osteochondromas: The Netherlands.

BACKGROUND: Multiple Osteochondromas (MO) is a rare genetic disorder characterised by the presence of numerous benign bone tumours, known as osteochondromas. Within the spectrum of debilitating symptoms associated with MO, pain is recognized as a major problem. Interestingly, our clinical observations suggest that fatigue is also a significant concern but has merely been touched upon in MO literature. This study aims to (1) assess the level of pain and fatigue in adult patients with MO; (2) compare fatigue in MO to healthy subjects and patients with Rheumatoid Arthritis (RA); (3) identify associated variables for pain and fatigue in patients with MO. METHODS: In this cross-sectional study, 353 adult MO patients completed a survey with validated questionnaires on pain, fatigue and psychosocial factors. Pain and fatigue were assessed with the Numeric Rating Scale (NRS), and fatigue was also measured with the Checklist Individual Strength (CIS). Fatigue (CIS) was compared with reference scores of healthy subjects and patients with RA, using a one-sample t-test. Multiple linear regression models for pain and fatigue were developed using a-priori selected independent variables based on a theoretical framework (ICF-model). RESULTS: Pain was reported by 87.8% (NRS = 3.19±2.6) and fatigue by 90.4% (NRS = 4.1±2.6) of patients with MO. Fatigue scores for MO (CIS = 84.1±15.3) were significantly higher (p<0.001) compared to reference scores of healthy subjects and patients with RA. The multivariable analysis for pain provided a final regression model with six variables (R2 = 0.445, p<0.001) of which fear avoidance beliefs and fatigue had the strongest association. For the fatigue models NRS (R2 = 0.455, p<0.001) and CIS (R2 = 0.233, p<0.001), the strongest associations were found with anxiety and depression respectively. CONCLUSIONS: Pain and fatigue are highly prevalent in patients with MO. Fatigue is significantly higher compared to healthy subjects and patients with RA. Several variables associated with pain and fatigue have been identified that could help improve multidisciplinary treatment plans.

Peroneal Nerve Decompression in Patients with Multiple Hereditary Exostoses: Indications, Complications, and Recurrence.

BACKGROUND: To our knowledge, there have been no studies examining peroneal nerve decompression and proximal fibular osteochondroma excision exclusively in patients with multiple hereditary exostoses (MHE). The purpose of this study was to evaluate the indications, complications, and recurrence associated with nerve decompression and proximal fibular osteochondroma excision in patients with MHE. METHODS: The records on patients with MHE undergoing peroneal nerve decompression from 2009 to 2023 were retrospectively reviewed. Indications, clinical status, surgical technique, recurrence, and complications were recorded and were analyzed using the Fisher exact test, logistic regression, and the Kaplan-Meier method. RESULTS: There were 126 limbs identified in patients with MHE who underwent peroneal nerve decompression. The most common indications were pain over the proximal fibula, tibialis anterior and/or extensor hallucis longus weakness, and dysesthesias and/or neuropathic pain. Seven cases experienced postoperative foot drop as a complication of the decompression and osteochondroma excision. Logistic regression found significant relationships between complications and excision of anterior osteochondromas (odds ratio [OR], 5.21; p = 0.0062), proximal fibular excision (OR, 14.73; p = 0.0051), and previous decompression (OR, 5.77; p = 0.0124). The recurrence rate was 13.8%, and all recurrences occurred in patients who were skeletally immature at the index procedure. The probability of skeletally immature patients not experiencing recurrence was 88% at 3 years postoperatively and 73% at 6 years postoperatively. CONCLUSIONS: Indications for peroneal nerve decompression included neurologic symptoms and pain. The odds of a complication increased with excision of anterior osteochondromas and previous decompression. Recurrence of symptoms following decompression and osteochondroma excision was found exclusively in skeletally immature patients. LEVEL OF EVIDENCE: Therapeutic Level III . See Instructions for Authors for a complete description of levels of evidence.

Medullary Compression by a Cervical Osteochondroma in a Patient with Multiple Hereditary Exostoses: A Case Report.

CASE: A 19-year-old man with Multiple Hereditary Exostoses presented with cervical pain without neurological symptoms and/or signs. Magnetic resonance revealed a large C2 osteochondroma, occupying a part of the medullary canal. He was submitted to an en bloc resection with hemilaminectomy without fusion. At the 1-year follow-up, he presented resolution of pain and no neurological symptoms or signs, without cervical instability or radiological signs of disease recurrence. CONCLUSION: Cervical osteochondroma is usually asymptomatic. Neurological compression and differentiation to chondrosarcoma are the main concerns. Surgical excision allows the local cure of the disease and is usually performed without fusion.

Exostosis múltiple hereditaria / Hereditary multiple exostoses

Introducción: la exostosis múltiple hereditaria u osteocondromatosis hereditaria es una enfermedad poco frecuente, de transmisión autosómica dominante. Se caracteriza por el crecimiento anómalo, especialmente en las metáfisis de los huesos largos, de osteocondromas benignos que pueden provocar acortamiento o deformidades óseas. Suele diagnosticarse en la primera década de vida.Objetivo: presentar un caso con exostosis múltiple hereditaria, de reporte infrecuente en la literatura, como hallazgo identificado por los médicos colaboradores cubanos en la República de Ecuador.Presentación del caso: escolar masculino de seis años de edad. Acudió a consulta, acompañado de su madre, por presentar un bulto en la mano derecha, con aumento progresivo de tamaño, doloroso y que le impide escribir. En el examen físico se comprobó la deformidad en la extremidad superior derecha, con aumento de volumen en la muñeca de consistencia pétrea que desplazaba la arteria radial. En la tomografía axial computarizada se observó proyección exostósica del tercio distal del radio y se confirmó el diagnóstico.Discusión: las deformidades del antebrazo inducidas por la enfermedad se pueden corregir quirúrgicamente con éxito. La posible recurrencia durante la etapa de crecimiento del niño hace aconsejable esperar hasta la proximidad de la madurez esquelética para realizar los procedimientos correctivos del antebrazo. Conclusiones: las posibles complicaciones óseas, los trastornos neurológicos y vasculares asociados y el riesgo de malignización son características a tener en cuenta por la comunidad médica por la importancia de su diagnóstico temprano con la corrección oportuna de las deformidades óseas que provoca(AU)

Introduction: hereditary multiple exostoses or hereditary osteochondromatosis is a rare disease with autosomal dominant transmission. It is characterized by abnormal growth, especially in the metaphysis of long bones, of benign osteochondromas that can cause shortening or bone deformities. It is usually diagnosed in the first decade of life.Objective: to present a case with hereditary multiple exostoses, of infrequent report in the literature, as a finding identified by the Cuban collaborating doctors in the Republic of Ecuador.Case presentation: male schoolchild of six years of age. He went to consultation, accompanied by his mother, for presenting a lump in his right hand, with a progressive increase in size, painful and that prevents him from writing. In the physical examination, the deformity in the right upper extremity was confirmed, with an increase in the volume of the wrist with a stony consistency that displaced the radial artery. In the computerized axial tomography, an exostoses projection of the distal third of the radius was observed and the diagnosis was confirmed.Discussion: forearm deformities induced by the disease can be successfully corrected surgically. The possible recurrence during the growth stage of the child makes it advisable to wait until the proximity of the skeletal maturity to carry out the corrective procedures of the forearm.Conclusions: possible bone complications, associated neurological and vascular disorders and the risk of malignancy are characteristics to be taken into account by the medical community because of the importance of early diagnosis with the timely correction of bone deformities that it causes(AU)

Trombosis arterial secundaria a exostosis de tibia y peroné / Arterial thrombosis secondary to tibia and fibula exostosis

No disponible

Exostosis múltiple hereditaria y embarazo / Hereditary multiple exostosis and pregnancy

La exostosis múltiple hereditaria es una enfermedad genética rara de transmisión autosómica dominante, que se caracteriza por una alteración cromosómica de los genes EXT1 (8q24.1), EXT2(11p11-p13) y EXT3 (cromosoma 19), se manifiesta predominantemente por desarrollar desde temprana edad lesiones óseas (osteocondromas) con tendencia a la malignización, con un gran horizonte clínico, dependiendo del número, tamaño y localización. Resumen Se presenta el caso clínico de una paciente femenina de 27 años de edad, que cursa con embarazo a término y el antecedente de exostosis múltiple hereditaria. Primer caso documentado de esta asociación a nivel mundial (AU)

Hereditary multiple exostosis is a rare genetic disease with autosomal dominant transmission characterized by chromosomal alteration of the EXT1 (8q24.1), EXT2 (11p11-p13) and EXT3 (chromosome 19) genes. The main manifestations of this disease are the development of bony lesions (osteochondromas) from an early age, with a tendency to malignant transformation and a wide clinical spectrum, depending on the number, size and localization of the lesions. We present the case of a 27-year-old woman with term pregnancy and a history of hereditary multiple exostosis. There are no previous reports of this association worldwide (AU)

Exostosis costal como causa de hemoptisis / No disponible

No disponible

Complicação vascular de osteocondroma: relato de caso / Vascular complication of osteochondroma: case report

Osteocondromas ou exostose são os tumores benignos mais comuns do tecido ósseo . Eles surgem durante o período de crescimento e, raramente, são responsáveis por complicações vasculares. No presente relato, reportamos um caso de paciente com osteocondroma no membro inferior e complicação vascular provocada pela compressão da artéria poplítea. O paciente apresentava queixas de dor em membro inferior direito quando foi investigado com angiografia e radiografia, que identificaram a lesão vascular e a tumoração óssea. Os tratamentos cirúrgicos simultâneos de ambas as lesões foram realizados com boa evolução pós-operatória.

Chondrosarcoma secondary to hereditary multiple exostosis treated by extended internal hemiplevectomy

The authors report on the case of a 28-year-old patient with extensive chondrosarcoma of the left ischium and pubis involving hip joint, skin, and soft tissue of the gluteal region, secondary to hereditary multiple exostosis submitted to an extended internal. Enneking type II and III hemipelvectomy. No prosthesis or arthrodesis was used. A few years ago, patients with extensive tumors like this one were treated with interilioabdominal amputation, resulting in a loss of quality of life. Two years after the limb-preserving surgery, this patient was disease free, with good functional results, including bipedal ambulation with support.

Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis

Relata-se um caso de sonolência excessiva periódica acompanhada de hiperfagia, com início na segunda década, documentado clinicamente, em traçados polissonográficos de noite inteira e no teste das Latências Múltiplas do Sono. Apresenta características que o distinguem da síndrome de Kleine-Levin, a saber, a ocorrência no sexo feminino, deficiência mental, incontinência pigmentar, acantose nigricans e exostose múltipla

Exostosis múltiple cartiloginosa en una familia: relación de sus complicaciones y la asociación con coagulopatías / Multiple cartilaginosis exostosis in a family: report of its complications and association with coagulation disorders

Cinco miembros de una familia mexicana tienen un padecimiento óseo transmitido en forma autosómica dominante, exostosis múltiple cartilaginosa (EMC). Su diagnóstico diferencial se hizo particularmente con la enfermedad de Ollier. No existen antecedentes de consanguinidad. La EMC principalmente se puede complicar con: compresión neurológica o vascular, fractura y malignización; puede asociarse con retardo mental. Algunas de esas complicaciones pueden ser más graves si ocurren junto con enfermedades hemorrágicas. Previamente se ha informado de asociación de la EMC con hemofilia y enfermedad de von Willebrand. La propósita de esta familia además de que sufre la EMC, también tiene una rara enfermedad hemorrágica, hipoprotrombinemia con disprotrombinemia