Bone marrow sarcoidosis

Sarcoidosis is a multisystem inflammatory disorder characterized by the formation of non-caseating granulomas. Hematological manifestations such as thrombocytopenia are unusual presentations of the disease. Various theories have been proposed for the development of thrombocytopenia in patients with sarcoidosis such as decreased production in bone marrow caused by granuloma formation, hypersplenism, and immune thrombocytopenia (ITP). We present a case of a 30-year-old African American male with ITP secondary to sarcoidosis who presented with a sudden onset of buccal mucosa and mucocutaneous bleeding and was found to have severe thrombocytopenia with values reaching as low as 1000/uL without prior history of easy bruising or bleeding...

An 83-year-old woman with asymptomatic pulmonary sarcoidosis presented to our hospital with fever and malaise for three months. Abdominal CT showed splenomegaly, and bone marrow examination revealed non-caseating granulomas. Pancytopenia was diagnosed due to bone marrow and splenic lesions of sarcoidosis. Steroid pulses were administered, but the patient died without response to treatment. Pathological autopsy results showed non-caseating granulomas and hemophagocytosis in the spleen and bone marrow. This suggested hemophagocytic syndrome, which was not suspected before death, in addition to sarcoidosis...

A patient presented with pancytopenia and hypercalcemia after intravesical immunotherapy with Bacillus Calmette-Guerin (BCG) for bladder cancer. Bone marrow biopsy performed six months later revealed noncaseating granulomas with negative stains for AFB. He was diagnosed with sarcoidosis and treated with prednisone. Hypercalcemia resolved, but mild pancytopenia persisted. One year later, he developed sepsis. Blood cultures six weeks later grew Mycobacterium tuberculosis complex, ultimately identified as Mycobacterium bovis...

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome has recently been described as an autoinflammatory disease associated with severe adult-onset inflammatory manifestations. The various clinical manifestations include recurrent high-grade fever, neutrophilic dermatoses, cutaneous vasculitis, chondritis of the ear and nose, pulmonary infiltrates, cytopenia, uveitis, gastrointestinal pain or inflammation, aortitis, hepatosplenomegaly, and hematological disorders. VEXAS syndrome is caused by somatic mutations of the ubiquitin-like modifier activating enzyme 1 ( UBA1 ) gene in myeloid-lineage cells...

Sarcoidosis is a systemic granulomatous disease, sometimes characterized by an extrapulmonary localization in 30 - 50% of cases. We describe a 60-year-old Italian man with an unexplained history of fatigue, ascitis and progressive renal function impairment. Diagnosis of hepatic and bone marrow sarcoidosis was established by histology, and fast improvement of renal function was obtained after starting  corticosteroid therapy. Atypical presentation and simultaneous involvement of liver, bone marrow and kidneys make diagnosis of extrapulmonary sarcoidosis still a diagnostic challenge...

OVERVIEW: IL-7 is a member of the family of cytokines with four anti-parallel α helixes that bind Type I cytokine receptors. It is produced by stromal cells and is required for development and homeostatic survival of lymphoid cells. GENOMIC ARCHITECTURE: Interleukin 7 (IL7) human IL7: gene ID: 3574 on ch 8; murine Il7 gene ID: 16,196 on ch 3. PROTEIN: Precursor contains a signal sequence, mature human IL-7 peptide 152aa, predicted 17...

A 54 year-old man with lymphopenia secondary to lymphatic filariasis was admitted with dry cough, fever and wasting syndrome. He was diagnosed with sarcoidosis and therapy with corticosteroid was initiated. The patient evolved with worsening of the symptoms. Histoplasma species was recovered in lung biopsy tissue, lung tissue culture, and bone marrow aspirate. The authors describe the first case of disseminated histoplasmosis secondary to lymphatic filariasis, followed by a literature review. 2012 Elsevier Ltd...

BACKGROUND: Sarcoidosis is a systemic inflammatory disease that is characterized by non-caseating epithelioid-cell granulomas upon histology. However, similar histological findings may also be seen with certain infections. Thus, differentiation from infection is pivotal to ensure appropriate treatment. Here, we present a case of a disseminated infection with Mycobacterium genavense owing to an interleukin 12 receptor subunit beta 1 (IL-12Rβ1) associated immunodeficiency in a previously healthy female who was initially misdiagnosed with sarcoidosis...

We report a patient with sarcoidosis who developed diffuse large B-cell lymphoma. A 71-year-old woman with persistent cough was diagnosed pathologically with sarcoidosis by resection of the right upper lung lobe with a nodule after an unsuccessful attempt of transbronchial needle aspiration for mediastinal lymphadenopathy. She was referred for an eye examination and found to have spotty retinal degeneration on the lower fundi of both eyes, together with residual macular edema and vitreous opacity in the left eye...

BACKGROUND AND PURPOSE: Granulomatous hypophysitis is a rare inflammatory condition of the pituitary gland with an imaging appearance that can overlap with that of pituitary adenoma. Differentiating the two before surgical resection can have important treatment implications. The purpose of our study was to determine whether it was possible to differentiate between granulomatous hypophysitis and pituitary adenoma on the basis of diffuse enhancing infrasellar basisphenoid bone marrow. MATERIALS AND METHODS: We present 3 cases, initially thought to be pituitary adenomas, that were pathology-proved granulomatous hypophysitis...

A 30-year-old man was admitted to Intensive Therapy Unit (ITU) with status epilepticus secondary to severe hypoglycaemia on a background of type 1 diabetes. CT of the brain showed generalised cerebral oedema. He was successfully stepped down to a medical ward after 2 weeks. He was noted to have persistently high calcium, which required multiple doses of pamidronate. Parathyroid hormone level was appropriately low. CT of the thorax, abdomen and pelvis showed mild hepatosplenomegaly with small pathological lymph nodes throughout the abdomen...

While several case reports suggest an association between sarcoidosis and multiple myeloma (MM), few cases involve smoldering MM. We report a case of sarcoidosis and smoldering MM discovered simultaneously in a patient admitted for hypercalcemia. Initial tests raised suspicion for sarcoidosis and MM, prompting invasive testing. Surgical lung biopsy revealed necrotizing granulomas, which could represent sarcoidosis in the appropriate setting. Thus, sarcoidosis was diagnosed following a negative infectious workup...

INTRODUCTION: Sarcoidosis is a systemic granulomatous disease, characterized by the formation of non-necrotizing granulomas. Even though granulomas are frequently found in liver biopsy, related symptoms rarely occur. In the current article, a case report is pictured to increase the knowledge on portal hypertension in hepatic sarcoidosis. CLINICAL SITUATION: A 62-year-old female was diagnosed with variceal bleeding for which elastic banding was performed. The patient was admitted to the intensive care unit (ICU) as the bleeding persisted and she evolved in hemorrhagic shock...

Unusual presentations of sarcoidosis pose a diagnostic challenge and warrant attention. Hematologic associations: Case 1 (37-years-old male): Pancytopenia: myelofibrosis (leading to sepsis and mortality) following a two-year quiescent course of biopsy-proven-sarcoidosis. Case 2 : (38-years-old male): Presentation with thrombocytopenia (5 × 103 /cmm): immune thrombocytopenic purpura ( histologically associated with megakaryocytic emperipolesis ). Biopsied enlarged lymph nodes demonstrated sarcoidosis. Hematologic sarcoid involvement is usually due to granulomatous bone marrow (3...

The involvement of the IL-23/IL23R pathway is well known in the disease pathogenesis of sarcoidosis and other inflammatory diseases. To date, the pathogenic mechanism of IL-23 is most notably described on CD4+ Th17 lymphocytes. However, the function of the IL23R on myeloid cells in sarcoidosis is poorly understood. Thus, the aim of the study is to investigate the role of the IL23R on myeloid cell in pulmonary granuloma formation. Methods: We generated IL23RLysMCre mice lacking the IL23R gene in myeloid cells...

Sarcoidosis is a systemic granulomatous disease in which medullary involvement is a rare extrapulmonary manifestation. We present the case of a 37-year-old man with right abdominal and dorso-lumbar pain lasting for months. Computerized tomography showed renal microlithiasis and retroperitoneal, hilar and mediastinal adenopathies. Laboratory results showed an elevated erythrocyte sedimentation rate, IgG, β2-microgobulin and angiotensin-conversion enzyme, serum calcium in the upper limit and hypercalciuria. There was a slight elevation of the CD4/CD8 ratio in bronchoalveolar lavage, without lymphocytic alveolitis...

BACKGROUND: Hemophagocytic lymphohistiocytosis is a rare, potentially fatal syndrome of immune hyperactivation. Here we describe a ganglionar tuberculosis evolving to hemophagocytic lymphohistiocytosis following adjuvant immunotherapy in a melanoma patient. CASE PRESENTATION: A 76-year-old Caucasian male with melanoma started with fever, diffuse petechiae, splenomegaly, anemia, thrombocytopenia, hypofibrinogenemia, and hyperferritinemia 2 months following completion of adjuvant treatment with nivolumab...

Sarcoidosis is a systemic granulomatous disease of unknown origin characterised by the presence of non-caseating granulomatous lesions. Extrapulmonary sarcoidosis with bone marrow involvement is rare and even more so without pulmonary involvement. Here, we describe a case of 69-year-old woman diagnosed as having bone marrow and hepatic sarcoidosis without pulmonary involvement based on 18 F-fluorodeoxyglucose positron emission tomography findings. She was successfully treated with systemic glucocorticoid therapy...

Sarcoidosis-lymphoma syndrome associated with portal hypertension is very rare. A 68-year-old female presented with a 5 kg weight loss in 6 months. Soluble interleukin-2 receptor activity was increased and total platelet count was decreased. Contrast-enhanced computed tomography showed the presence of hepatosplenomegaly and a 3 cm-sized tumor in segment 3 of the liver. The hepatic venous catheterization showed mild portal hypertension. On fluorodeoxyglucose-positron emission tomography/computed tomography, progressive malignant lymphoma was suspected...

BACKGROUND: Heterozygous mutations in the transcription factor GATA2 result in a wide spectrum of clinical phenotypes, including monocytopenia and Mycobacterium avium complex (MAC) infection (MonoMAC) syndrome. Patients with MonoMAC syndrome typically are infected by disseminated nontuberculous mycobacteria, fungi, and human papillomavirus, exhibit pulmonary alveolar proteinosis during late adolescence or early adulthood, and manifest with decreased content of dendritic cells (DCs), monocytes, and B and natural killer (NK) cells...