Pubic and ischial sarcoidosis: a single bone lesion

Bone sarcoidosis is very rarely indicative of the disease. When bone lesion is associated with lung and lymph node involvement, diagnosis can be made based on clinical and imaging features. When bone lesion is isolated, it is difficult to differentiate it from bone metastases because they both have similar appearance in imaging : in this case, the diagnosis is made by bone biopsy with histological study. We report the case of a 61-year-old male with a lytic lesion of the right ischio pubic ramus which appears to be aggressive whose biopsy revealed bone sarcoidosis.

Solitary Temporal Plasmocytoma: A Case Report

Introduction: Solitary plasmacytoma is a malignant plasma cell tumor that is much rarer than multiple myeloma. The location in the vault of plasmacytoma is extremely rare. We report the case of a plasmacytoma of the cranial vault in a 53-year-old adult. Observation: A 53-year-old man consulted for tinnitus, left hypoacusis and trigeminal neuralgia of the left V2 and V3, which had been evolving for one year and was aggravated one month later by the appearance of a left temporal swelling with decreased visual acuity on the left. The MRI confirmed the existence of a lesional process of the temporal vault, in T1 iso signal, T2 hypersignal and flair, intensely and heterogeneously enhanced after injection of gadolinium. Anatomopathological study revealed a solitary temporal plasmacytoma, which was referred to oncology for further management. Discussion: Plasmacytoma is defined as an isolated malignant plasma cell tumor without clinical, biological, or radiological signs of Myeloma. Craniocerebral localization is rare and constitutes only 0.7% of all solitary plasmacytomas. Conclusion: Cranial plasmacytoma is a rare tumor that should be investigated for associated myeloma. Although the imaging appearance is not very specific, plasmacytoma should be considered in the differential diagnosis of any invasive lytic lesion of the cranial vault.

Multicentric epithelioid hemangioendothelioma of humerus and scapula

Epithelioid hemangioendothelioma (EH) is a rare malignant vascular tumor occurring mainly in the liver and lungs, with bones being a rare site and primarily seen in the adult population. We present a rare case of multicentric EH in the right humerus in an adolescent male, who presented with complaints of pain and swelling in the right shoulder. Radiographs and Computed tomography showed a large expansile lytic lesion in the proximal end of the right humerus with areas of cortical destruction and matrix calcification. On Magnetic resonance imaging, the lesion was predominantly isointense on T1-weighted image, hyperintense on T2-weighted, and Short Tau Inversion Recovery images with prominent flow voids within. On post-contrast sequences, the lesion showed intense heterogenous enhancement with a non-enhancing central necrotic area. Multiple smaller lytic lesions with similar imaging characteristics were also found in the mid and distal shaft of the right humerus and the right coracoid process. Differentials of Telangiectatic osteosarcoma, Giant cell tumor, brown tumors of hyperparathyroidism, and metastasis were considered. Core biopsy revealed that the lesion was an EH. Though the imaging features of EH are non-specific, it may be considered in the differential diagnosis of an expansile lytic bone lesion with no periosteal reaction, showing cortical break and soft tissue component, especially if it is multifocal and multicentric.

The Great Imposter: A case Report of IgG4 RD -Hypertrophic Pachymeningitis with Skull Lytic lesion and Pulmonary Nodules

Immunoglobulin G4-related disease is an inflammatory condition with unique clinical, serological, and pathological features. Here, we report a diagnostic challenging clinical case. Histopathology was used to diagnose his Ig4RD. This unique inature reinforces the fact that it is crucial to consider the diagnosis of IgG4-RD in those presenting with pachymeningiti

Subaxial cervical Castleman’s disease: A rare cause of myelopathy

Background: Castleman’s disease (CD) is a rare lymphoproliferative disease of unknown origin which rarely affects the spine. Here, we present CD involving a lytic, destructive C3 lesion with extension into the spinal canal contributing to upper cervical cord compression. Notably, the lesion mimicked other primary bone lesions, metastatic tumors, and/or lymphoma. Case Description: A 52-year-old male presented with progressive quadriparesis (i.e. weakness, instability of gait) and loss of dexterity in both hands over 2 weeks. The MRI, X-ray, and CT scans revealed a destructive lytic lesion involving the C3 vertebral body (i.e. including both anterior and posterior elements). The patient underwent a C3 total and C4 partial laminectomy followed by a C2-C4/5 instrumented fusion (i.e. included C2 pedicle screws/laminar screws, and C4/C5 lateral mass fixation). Histopathology showed a lymphoproliferative disorder with follicles of different sizes, central abnormal germinal structures, and a Mantle zone (i.e. expanded germinal centre with concentric layering with an “onionskin” appearance). These findings were all consistent with the diagnosis of CD (i.e. hyaline-vascular type). Conclusion: CD, a rare lymphoproliferative disease of unknown origin rarely affects the spine. Here, we presented a 52-year-old male with a C3 lytic lesion resulting in C3/4 cord compression that favorably responded to a C3/4 laminectomy with posterior instrumented fusion.

An Unusual Presentation of Kaposiform Hemangioendothelioma in the Mandibular Bone

Introduction A 4-year-old child presented with neck pain for several months which progressed to jaw pain and limitation in opening of the jaw. Eventual diagnosis of Kaposiform hemangioendothelioma is notable for the later age of presentation, the involvement of bone and soft tissue and the response to therapy. Case In March of 2020 child first developed sore throat and pain in his neck which led to limitation in neck movements. An enlarged tonsil was noted and treated. Symptoms improved only to recur and worsen by August 2020. Child was waking up with pain at night. Tonsils were removed in September to address this. Shortly thereafter, his mouth wouldn't open well. They saw several physicians without a definitive diagnosis for this including pediatrician, ENT and audiology. In late February 2021 ENT was re-consulted. A lytic lesion was discovered on X-ray. MRI further elucidated this as a destructive mass within the right mandibular ramus with soft tissue extension. A biopsy then characterized it as a Kaposiform Hemangioendothelioma. The biopsy showed a cellular vascular neoplasm forming variable small lobules with intervening fibrous tissue. The cells were monotonous and flat to spindled. Slit-like spaces and glomeruloid structures were seen. CD31 and D2-40 stains highlighted the endothelial cells and SMA stain pericytes. HHV8 stain was negative. No laboratory evidence of consumptive coagulopathy was noted. there was no evidence of Kasabach Merritt syndrome (KMP) Management Given the location of tumor and risks and morbidity of surgery, child was initiated on oral sirolimus aiming for a trough between 10 and 15 ng/ml and prednisone therapy with rapid taper in 4 weeks. Significant reduction in size of tumor was noted on serial scans. It measured 3.9 cm in craniocaudal, 2.8 cm in transverse, and 3.5 cm in AP dimension at diagnosis and reduced to 3.5 x 1.9 x 2.8 cm within 6 weeks. Child had improved mobility of jaw and improved speech. Nocturnal pain resolved on steroids but recurred off steroids. Aspirin was added to the treatment when steroids were weaned and helped resolve the pain. Hypercholesterolemia was noted on sirolimus, but otherwise very well tolerated at this dose. Clinical exam and serial MRIs have shown continued response to therapy. Summary We present this case as a rare presentation in an older child with the mandibular bone as the primary site. Kaposiform hemangioendotheliomas are very rare, and usually seen in the newborn or early infancy. The occurrence later in life with bone and adjacent soft tissue primary and cervicofacial location is more rare. Although 70% of KHE are complicated by Kassabach Merritt phenomenon, the older age and location in bone are features that have been associated with lack of KMP in larger series. In many cases surgical management would be preferred, but given the location of this tumor, we opted for medical therapy with sirolimus and prednisone. The impressive response to therapy is encouraging and makes us hopeful that we may decrease size such that surgery is less morbid or avoid surgery entirely. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.

Osteolytic Bone Lesions in Patients with Primary Myelofibrosis: A Systematic Review

Background: Philadelphia negative Myeloproliferative neoplasms classically characterized by excess production of terminal myeloid cells in the peripheral blood. Among this group, primary myelofibrosis is the least common and usually carries the worst prognosis. Bone involvement in primary myelofibrosis has many forms and tend to manifest as osteosclerotic lesions in vast majority of cases, however osteolytic lesions are reported in exceptional occasions. In this review, we tried to shed the light on this rare association. Methods: We performed a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We searched the English literature (Google scholar, PubMed, and SCOPUS) for studies, reviews, case series, and case reports about patient with myelofibrosis who develop lytic bone lesion. We used the terms in combination: "Myelofibrosis'" or "Primary myelofibrosis" OR "chronic idiopathic myelofibrosis" OR "agnogenic myeloid metaplasia" and "Osteolytic bone lesion", "Osteolytic lesion", "lytic bone lesion". The review included patients with primary myelofibrosis confirmed by biopsy. The reference lists of the included studies were scanned for any additional articles. The search included all articles published up to 10th April 2021. Two independent reviewers screened the titles and abstracts of the records independently and papers unrelated to our inclusion criteria were excluded. A total of 13 articles were included in the review. Results : Total of 13 patients were included in the review. 7 patients were males, male to female ratio almost of 1:1. The mean age at time of diagnosis was 57.69 year, only two cases were diagnosed at young age, however the majority have osteolytic bone lesion at age above 50 years (12/13) of cases. The mean time between the diagnosis of primary myelofibrosis until the osteolytic bone lesion capturing was approximately 8.8 years. 9 out of 13 patients have painful bone lesion, others were incidental finding during a scan for other reasons. All patients have significant splenomegaly. All patients had the lytic lesion detected on x ray, and 2 patients had confirmed findings on magnetic resonance imaging (MRI). The most common affected bones were the vertebrae, pelvis, ribs, humerus then the scapula, femur and skull and less frequently wrist bones and calcaneus. Only one case has reported involvement of the tibia and fibula. The shape, the extension and the numbers of lesion were variable, some showed cortical sparing and others come with cortical destruction. 10 out of 13 cases have confirmed the nature of the osteolytic lesion containing hematopoietic stem cells with or without fibrosis, 2 cases were positive for JAK2 mutation. 2 patients have received ruxolitinib, one of them preceded with bone marrow transplant, others received nonspecific therapies. Discussion: The hyperdynamic ineffective bone marrow can have a negative impact on the bone structure resulting in different types of bone pathology including lytic and sclerotic lesions. The exact mechanism beyond developing lytic lesions is not fully studied, observations revealed two possible causes: systemic inflammation and direct mechanical compression from para-osseus lymph nodes. Lesions prevalence was equal in both genders which can be attributable to a small sample size, in addition, most of the patients were in advanced stages when the lytic lesions discovered and this observation can be explained by the needed time to generate extramedullary hematopoiesis and its subsequent effect on bone structure. The variation in time between the diagnosis of PMF and development of osteolytic bone lesions could be due to the indolent phase of the disease, in which patients can survive for decades without symptoms. Until recently the treatment of myelofibrosis was supportive, but after establishing the JAK2-stat pathway role in myeloproliferative disorders the FDA approved ruxolitinib a JAK2 inhibitor which shows not only survival benefit but also has a significant impact on the resolution of the lytic bone lesions as well. conclusion Osteolytic bone lesions in patients with primary myelofibrosis is extremely rare finding, and noticed shortly after diagnosis in elderly and after longer duration in young patients. The lytic lesion seems to have a bad prognostic value as we can notice 11 out of 13 patients died within one year of detection. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.

Breaks, bends and holes

A 14 year old boy presented with lower limb deformities and bone pain since 8 months. He was severely wasted, stunted with tachypnea, pallor, genu-valgum, widened wrists and rachitic rosary. Workup revealed end-stage-renal-disease with metabolic acidosis, anaemia, hypocalcemia and secondary hyperparathyroidism. Scannogram of both lower limbs showed evidence of rickets, fractures and a lytic lesion in the lower end of the right femur suggestive of osteitis-fibrosa-cystica (OFC). The case depicts how one should evaluate a lytic bony lesion taking into consideration the complete clinical and biochemical picture and that OFC is not uncommon in adolescence in the presence of unchecked hyperparathyroidism. The child was treated with iron therapy, oral bicarbonate, oral vitamin D, erythropoietin and advised renal replacement therapy.