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Constitutional diseases of bone form a heterogeneous group of rare diseases of varied phenotypic presentations with a vast genetic heterogeneity. Detected mostly in childhood, they may also be diagnosed in adulthood. Medical history, clinical examination as well as biological and radiological investigations may lead to the diagnosis, which should be confirmed genetically. Joint limitations, early osteoarthritis, hip dysplasia, bone deformity, enthesopathies, bone fragility or a small height can be warning signs of a constitutional disease of bone. Establishing the diagnosis is crucial to enable optimal medical management with a specialized multidisciplinary team., Competing Interests: Les auteurs n’ont déclaré aucun conflit d’intérêts en relation avec cet article.

Chronic Kidney Disease (CKD) is associated with a strong impact on phosphocalcic homeostasis, due to the chronic reduction in glomerular filtration rate (GFR) (phosphate excretion decrease), the inhibition of calcitriol synthesis and dietary restrictions. CKD-Mineral and Bone Disorders (CKD-MBD) must be monitored in CKD patients with biological work-up associated with bone markers and bone density dual X-ray absorptiometry. Adapted diet (phosphate restriction, normalization of calcium intake) and medications (vitamin D, phosphate binders, calcimimetics) help to correct CKD-MBD. Serum parathormone must be kept between 2 to 9 times the usual values, to limit renal osteodystrophy and avoid tertiary hyperparathyroidism. CKD patients are also at risk of artery calcifications, which can significantly increase the morbidity and mortality of the affection. Bisphosphonates may be used after correction of biological abnormalities, in patients with estimated GFR above 30ml/min/1,73m 2 . Even if transplantation aims to normalize kidney function, kidney transplant recipients remain at risk of CKD-MBD. Biology and bone density dual X-ray absorptiometry must be regularly assessed, especially in the few months following the transplantation. More studies are needed to know if treatments of CKD-MBD are well tolerated in severe CKD and if they are associated with a decrease of bone fracture and vascular calcifications., (Copyright © 2022 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)

Introduction: Sarcoidosis is a multi-systemic disease characterized by non-caseating granulomas. Bone involvement initially considered as rare and described as a peripheral osteitis of the hands and feet, has recently been reported on the axial skeleton., Case Reports: We report 4 clinical observations of sarcoidosis (3 women, 1 man) with axial bone involvement located to the spine (n = 4), pelvic bone (n = 2), scapular bone (n = 2), sternum (n = 1), mandible (n = 1). Sarcoidosis was already diagnosed in 3 cases. Bone pain was the main symptom, related in 3 cases. Magnetic resonance imaging appeared to be the best imaging test Histological bone analysis revealed typical granulomatous lesions (n = 2). Treatment included corticosteroids (n = 4), hydroxychloroquine (n = 2), and methotrexate (n = 2), with a good efficacy on bone pain in symptomatic patients., Conclusion: These 4 cases, as well as recent literature, illustrate bone involvement of sarcoidosis on the axial skeleton. It is symptomatic in around 50% of cases but may be a source of significant disability. Differential diagnosis with neoplasm may require bone histological analysis. This condition appears to be responsive to usual treatments for sarcoidosis., (Copyright © 2020. Published by Elsevier Masson SAS.)

The infiltration by numerous osteoclastic giant cells is a frequent finding in bone tumors and pseudo-tumors. Pathologists must integrate clinical and radiological data to achieve a correct diagnosis in bone pathology. Benign giant-cell rich lesions of bone encompass giant cell tumor of bone, aneurysmal bone cyst, chondroblastoma, brown tumor and fibrous cortical defect/non-ossifying fibroma. Amongst malignant neoplasms, variants of conventional osteosarcoma, undifferentiated pleomorphic sarcoma, leiomyosarcoma and bone metastasis must be discussed. Recently, new diagnostic markers, antibodies for immuno-histochemistry and genetic markers, have been developed and are helpful to diagnose such lesions., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

When to think of a constitutional bone disease?. Constitutional bone diseases are a heterogenous group of disorders, variably causing: growth anomalies, joint limitation and/or hypermobility, pain, bone frailty and/or dysmorphic elements in the craniofacial sphere and the extremities. Clinical examination, radiographies with a phosphocalcic test allow to guide the diagnosis. Medical therapy for these pathologies is most of the time symptomatic, combining painkillers, kinesitherapy, and functional and/or surgical orthopedic treatment. Genetic consultation is essential to confirm the diagnosis, possibly suggest the adequate molecular analysis, discuss the genetic counselling and suggest an outline of medical therapy., Competing Interests: Z. Pejin, J.-C. Auregan et C. Glorion déclarent n’avoir aucun lien d’intérêts. G. Baujat déclare des liens ponctuels avec Biomarin et Alexion. G. Finidori n’a pas transmis de déclaration d’intérêts.

The significant progress on the quality and resolution of the images obtained by "Dual X-ray Absorptiometry" or DXA has permitted on one hand to improve some existing features and on the other to develop new ones, significantly refining the care of our patients in various pathologies. For example, by improving the prediction of fracture risk by indirect analysis of micro- and macro-architecture of the bone, by looking for markers of associated bone diseases (research vertebral fractures or atypical femoral fractures), or by assessing the metabolic status by the measurement of body composition. With the best performing DXA devices we will soon be able, in clinical routine, to determine bone age, to estimate cardiovascular risk (by measuring the calcification of the abdominal aorta) or to predict the progression of joint osteoarthritis and its evolution after surgical management.

We report a case of a 66-year-old woman, who was treated for a circumferential tumefaction of the middle phalanx of the third finger, evolving for one year. The excision-biopsy of the phalanx led to the diagnosis of an osseous tuberculosis. Through this exceptional case, the authors made a review of the literature on the clinical, radiological and evolutionary aspects of the digital osseous tuberculosis., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

More than half of all people with cancer are treated with radiation therapy. Over the last decade the technical advances, both in therapy beam precision and imaging, have greatly improved the therapeutic ratio and accuracy of modern radiotherapy. However, damaging healthy tissues near the tumor leads to radiation induced injury that develops immediately and continue to progress long after exposure to radiation. Recently dramatic advances have been made in understanding the determinant of tissue response to radiation exposure.

Background: Rheumatic manifestations of genetic hemochromatosis are frequent with axial or peripheral arthropathies (mono-, oligo- or polyarticular). These manifestations are characterized by articular damage and osteoporosis., Aim: To review the rheumatic manifestations of genetic hemochromatosis., Methods: A narrative review of literature., Results: The diagnosis should be brought to mind when we discover arthropathy resembling degenerative joint disease with involvement of unusual articular sites, almost identical to the arthropathy in calcium pyrophosphate dihydrate crystals deposition disease (chondrocalcinosis)., Conclusion: There is a significant bone loss in HC that cannot solely be explained by hypogonadism or cirrhosis and must lead to measure bone mass density to each patient with HC.

Acute limping may be the result of multiple pathologies in children. The differential diagnosis varies based on the age of the child. Irrespective of age, the initial imaging work-up includes AP and frog leg radiographs of the pelvis and ultrasound; MRI may sometimes be helpful. In children less than 3 years, infections and trauma are most frequent. MRI is the imaging modality of choice when osteomyelitis is clinically suspected. Between the ages of 3 and 10 years, transient synovitis of the hip and Legg-Calvé-Perthes disease are main considerations but infection, inflammation and focal bony lesions are also considered. In children over 10 years, slipped capital femoral epiphysis also is considered., (Copyright © 2011 Elsevier Masson SAS and Éditions françaises de radiologie. All rights reserved.)

Chronic limping in children usually indicates the presence of an underlying organic lesion. Clinical evaluation establishes the site and type of limping. It may suggest a neurological or mechanical lesion or locoregional etiology at the level of the hip or pelvis. Plain radiographs and ultrasound are firstline imaging techniques. The diagnosis may be delayed either due to ignorance of age-specific entities or false positive or negative results on plain films and ultrasound. MRI now plays a major role for diagnosis. Multiple potential underlying etiologies including trauma, infections, arthritides or tumors are best evaluated with MRI. The MRI examination should not be limited only to the hip joint., (Copyright © 2011 Elsevier Masson SAS and Éditions françaises de radiologie. All rights reserved.)

The viability of the bone is compromised in two main situations at the wrist: Kienböck's disease and scaphoid nonunion with avascular necrosis. Plain radiography and CT allow an accurate anatomical approach of morphological changes associated with avascular necrosis of the lunate and the scaphoid fracture with complications. CT is readily available to detect nondisplaced fractures. However, early forms of necrosis can be misdiagnosed and evaluation of bone vitality is impossible. MRI is the best imaging modality to detect avascular necrosis and the intravenous injection of gadolinium improves the specificity of diagnosis of necrosis. The lack of enhancement of the proximal fragment of the scaphoid leads the surgeon to use a vascular graft in the treatment of nonunion. The technique has its limitations. The bone necrosis is histologically complex and contrast enhancement does not mean necessarily viability. However, MRI is still the most powerful imaging modality in the assessment of the bone marrow., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Five bilateral forearms allograft have been performed between January 2000 and July 2009 in Lyon (France). The first four patients (three males, one female) have been the subject of an assessment of the bone quality of those allografts. The techniques selected for this study were: radioclinical analysis, bone scintigraphy, MRI, bone densitometry and High Resolution peripheral Quantitative Computed Tomography (HR-PQCT). Histology has been performed only on the first patient unilaterally grafted in 1998 who did not take part in this clinical research protocol, after amputation of his rejected graft. On the clinical, radiological and scintigraphical aspects, donor bone integration in hands allograft are good on a macroscopic point of view considering the healing and the general reaction of the bone in situation of fractures, infection and growth. The scintigraphy does not show important variations compared to the ones we can observe on contact with osteosynthesis material or during bone autografts. MRI found neither focal nor periosteal anomaly on grafted bone. The bone densitometry did not show significant difference with secondary osteoporosis one can observe in other grafted patients under immunosuppressive treatment. The HR-PQCT showed for the three males patients, a higher loss in volumetric density, for grafted bone than in the recipient patient control skeleton. Due to the few patients of this series, and the discrepancies in follow-up duration, the presented data have to be confirmed with further studies., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Osseous hydatidosis, especially when located in the rib, is a very rare disease. Less than 50 cases of costal echinococcosis have been reported in the literature to date. The authors report a case of echinococcosis of the rib with epidural extension in a 76-year-old patient presenting paraparesis. In addition, the patient presented a large posterior and thoracic soft tissue mass measuring about 30 centimetres in diameter. A chest x-ray, a CT thoracic scan and an MRI of the dorsal spine were performed. The imaging suggested echinococcosis of the rib with epidural extension. The cyst was completely resected. Histopathology of the resected specimen confirmed the diagnosis of echinococcosis. The patient died due to postoperative complications. Accurate presurgical diagnosis allows for appropriate management and helps eradicate the disease. This also prevents the dissemination of parasites and further complications.

Nasofrontal fistulas, also called nasofrontal dermal sinuses, are very rare and found for the most part in children. This congenital malformation may be revealed by local infection or neuromeningitis, making this a serious disorder. We report one case of nasofrontal dermal sinus diagnosed in an 11-month-old girl, which was complicated by left fronto-orbital infection. Through this case, the authors stress the role of imaging methods in confirming the diagnosis and looking for associated cysts (dermoid and epidermoid).

Langerhans cell histiocytosis or histiocytosis X has a variable course from a self-limited eosinophilic granuloma to an aggressive disseminated disease. It mainly affects children. We report a 76-year-old woman with multifocal bone histiocytosis X, involving the rachis, an iliac bone and the skull. The diagnosis has been established by histological exam. Outcome was favourable after chemotherapy.

Unlabelled: The congenital cholesteatoma of the mastoid is rare and asymptomatic., Case Report: We report a case of a young boy (5 year old) who presented mastoiditis, post auricular fistulisation and polyp of the external auditory canal. The mastoidectomy was performed and a cholesteatoma of the mastoid and the antrum was removed. No cholesteatoma was found in the tympanic cavity and the ossicular chain was normal. This surgery implies the complete removal of cholesteatoma and its matrix. One year after the patient showed no recurrency., Conclusion: The silent evolution of the congenital cholesteatoma explains the delay of its diagnosis and the risk of mastoiditis.

Gaucher disease frequently has severe osteoarticular manifestations that may be disabling. Ischemic phenomena cause the most serious complications and lead to irreversible lesions. Aseptic osteonecrosis of the hip is the most disabling complication; it causes intense early bone pain and often joint collapse and secondary osteoarthritis in young adults. Localized or systemic bone fragility explains osteopenia, osteoporosis, and fractures (vertebral collapse with irreversible kyphosis causing chronic morbidity). Although no double-blind randomized studies have assessed the bone effects of enzyme replacement therapy, it has been shown effective in reducing bone pain in about half of all treatment-naive patients within 1 to 2 years and in improving bone mineral density after 3 years. In open-label trials, substrate reduction therapy (miglustat) reduced both bone pain and bone marrow infiltration. Specific treatment for bone fragility, with bisphosphonates for example, should be considered after rigorous individualized evaluation and assessment of other risk factors.

Ultrasound is a valuable imaging technique for musculoskeletal pathology. It is increasingly used for image-guided procedures such as aspiration of superficial or deep collections, injection of drugs, or biopsies. Ultrasound guidance is an interesting alternative to procedures performed either blindly or under fluoroscopic or CT guidance. Advantages of US-guided procedures include the absence of ionizing radiation, real-time monitoring during needle placement, decreased risk of injury to neighboring structures (namely vessels and nerves), real time confirmation of procedure success (injection, drainage, biopsy). Minor inconveniences relate to the proper conditions for performance of ultrasound. Complications are rare and can be avoided by using proper sterile technique and evaluate for potential contra-indications to the procedure. As with any other image guided procedure, informed consent is required.

Magnetic resonance (MR) imaging is well established for the diagnosis of musculoskeletal diseases. The excellent tissue contrast and the multiplanar imaging capability have both contributed to the improvement of this technique. The development of fast acquisition techniques, sufficient patient access obtained with open magnet configurations and advances in the technology of MR compatible instruments allow a new approach to interventional radiology. These recently commercially available open-bored high-field magnets allow standard interventions such as biopsies or intra-articular infiltrations. Moreover, new interventions e.g. preoperative marking of soft tissue or bone marrow tumors are now possible with the better tissue contrast of MR imaging.

Background: Hydatidosis is an endemic affection in Tunisia. Bone echinococcosis is a relatively rare entity accounting for only 0.5-2% of all hydatid cysts in humans and chest wall is an uncommon site for the disease., Aim: Report of a new case, Case: We report about this talk 5 cases concerning 2 men and 3 women (mean of age 35.4 years) explored for parietal mass (4 cases), or chest pain (1 case). Diagnosis was suspected on radiologic findings in all cases. All patients underwent surgery. Medical treatment was associated in 2 cases. Histopathology of resected specimen confirmed diagnosis of echinococcosis. No recurrence was observed during follow-up period.

The authors propose that a coronal STIR sequence with large FOV, similar to the de Sèze projection, including lumbar spine, sacrum, pelvis and hips should be obtained in all patients as part of the lumbar spine MRI protocol. For an additional few minutes of scanning time, this additional sequence could demonstrate the presence of lesions (hips, pelvis, sacrum, SI joints, retroperitoneum...) that would otherwise go undetected on standard sagittal and axial MRI images of the lumbar spine.

Diagnosis of osteitis/arthritis requires clinical, microbiological and radiological data. Good quality samples must be obtained before antibiotic therapy is introduced to identify causative microorganisms. New technical methods such as PCR can improve the diagnosis. X-ray radiograph is always performed when osteitis is suspected, even if the diagnosis can be difficult since abnormalities are present late in the course of the disease. MRI is the best method to establish the diagnosis of osteitis or arthritis. Scintigraphy can be an interesting investigation since it can be promptly performed even in patients with foreign material. New technical such as PET-Scan could be interesting to establish the diagnosis. Collaboration between clinicians, microbiologists and radiologists is essential to establish the diagnosis in order to target the appropriate treatment and to improve the prognosis.

Despite the advances made in the surgical management and the optimization of anti-infective treatments, bacterial infections on bone and joint prosthesis remain a diagnostic and especially therapeutic issue. Infections can be either early (postoperative) or late (hematogenous) acute infections, or late chronic infections. Typically, the diagnosis of hematogenous acute infections is usually easy to establish. However, diagnosing chronic infections is more complex and mostly requires complementary examinations. In any case, no element can indicate with certainty the existence of an infection, aside from the identification of germs in the samples, properly collected. Treatment combines one of the various surgical strategies (surgical scrub with prosthesis maintenance, 1- or 2-step prosthesis replacement, prosthesis removal without reimplantation or head-neck resection, therapeutic abstention) and an extended antibiotherapy. In any scenario, a close collaboration between physicians and surgeons is essential to stop the infectious process.

Syringomyelia can occur in patients presenting bone and joint diseases of various origins. When joint destruction of the shoulder or elbow produces little pain, a neurological cause might be involved. In this case, the disease history can be of utmost importance because an initial diagnosis of rheumatoid polyarthritis, polyosteoarthritis, or destructive joint disease can be misleading before the syringomyelic origin of the bone and joint disease becomes patent. We report two cases illustrating this association and the diagnostic pitfalls which can delay recognition of the syringomyelia. Better awareness of the prevalence of this condition should be helpful in establishing the diagnosis and in selecting patients who can benefit from neurosurgical treatment. The two cases presented here suggest that syringomyelia could be underdiagnosed in certain patients with an initially atypical presentation. A review of the current knowledge of syringomyelia suggests that arthroplasty is generally not advisable for destroyed dislocated syringomyelic joints.

Widespread use of multislice volumic CT and rapid 3D reconstructions as well as MR sequences allowing high-resolution tissue characterization have greatly improved the efficiency of face and neck imaging. Panoramic radiography nevertheless remains highly contributive. Sonography has now replaced the standard sialography for the diagnosis of salivary lithiasis. The quality of MR sialography remains subject to sufficiently salivation into the salivary ducts, but without long-lasting retention increasing protein content. Plain radiographs of the face are now out of date.

Purpose: The aim of this study was to report the MRI findings that can suggest a vaso-occlusive crisis in cases of febrile osseous pain in children suffering from sickle cell disease., Materials and Methods: MRI (T1 and T2 weighted sequences and T1 weighted sequence with fat saturation before and after gadolinium injection) was performed in 10 children with sickle cell disease, presenting with febrile osseous pain. The diagnosis of vaso-occlusive crisis was made after fast improvement due to symptomatic treatment and negative bacteriological result., Results: MRI was abnormal in all cases. A multifocal localisation was found in 2 cases. Bone marrow abnormalities were constant. In 10 cases, high T1 and T2 signal and metaphyso-diaphysial lesions were noted. Heterogeneous medullar enhancement with "ink stain" feature was constant. Early periosteal abnormalities were noted in 8 cases with inflammatory or stratified features. Cortical thinning was found in 1 case. Soft tissue abnormalities were observed in 5 cases with inflammatory features in 4., Conclusion: Multifocal synchronous localisation, medullar abnormalities resulting from hemoglobin degradation, heterogeneous enhancement, early periosteal abnormalities and associated soft tissues swelling are MRI findings suggesting acute vaso-occlusive disease.

Objectives: Langerhans cell histiocytosis is a proliferating cell disease that may take various forms characterised by bone, skin lymph nodes and visceral lesions. Eosinophilic granuloma is a localised form of histiocytosis X, or Langerhans' cells histiocytosis, a benign form with unknown aetiology. At the head and neck level, it is usually located on the temporal, and usually occur in association with multifocal disease; however, isolated lesions may occur in the mastoid bone alone., Methods: The author's present a case of a patient with unifocal eosinophilic granuloma limited to the mastoid treated in ENT and radiotherapy departments., Results: CT scan demonstrated an osteolytic lesion of the mastoid. The biopsy and immunohistochemical study confirmed the diagnosis. A surgery followed by a radiotherapy (20 Gy) have stabilised the situation. There is no recurrency after one year., Conclusion: Unifocal eosinophilic granuloma of the temporal bone is a benign lesion of langerhans' cell histiocytosis. Its diagnosis is difficult when the disease remains isolated. Its treatment depend on its extension and its risks. The excellent prognosis does not dispense on regulary follow up.