A Case of Sarcoidosis Disseminated to Skeletal Tissues

Sarcoidosis is a systemic granulomatous disease of unknown etiology that typically affects young adults. Diagnostic criteria for sarcoidosis include involvement of two or more of the following organ systems: 1) pulmonary infiltrates; 2) bilateral hilar adenopathy; and 3) skin and/or eye lesions. Musculoskeletal system is less commonly involved. For that reason potential presenting symptoms can vary and make the diagnosis very challenging; particularly if a patient has symptoms that mimic other conditions. Musculoskeletal involvement for example can mimic malignancy. The following case describes a patient with known history of primary metastatic mediastinal Germ Cell Tumor (GCT) with teratomatous elements who is diagnosed with sarcoidosis involving skeletal tissues.

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Quinine-Induced Thrombotic Microangiopathy (Q-TMA): Frequency, Presenting Features, Outcomes

Blood ◽

10.1182/blood.v128.22.1381.1381 ◽

2016 ◽

Vol 128 (22) ◽

pp. 1381-1381 ◽

Cited By ~ 1

Author(s):

Evaren E Page ◽

Sara K. Vesely ◽

James N. George

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Conflicts Of Interest ◽

Elevated Serum ◽

Kidney Injury ◽

Long Term Outcome ◽

Presenting Symptoms ◽

Immune Mediated ◽

Organ Systems ◽

History Of

Abstract Q-TMA is an acute, severe, immune-mediated, drug-induced disorder. Q-TMA is suspected when symptoms suddenly begin within hours following quinine (Q) exposure. Diagnosis of Q-TMA is established by the history of recurrent acute symptoms following recurrent Q exposures and/or by documentation of Q-dependent antibodies reactive with platelets and/or neutrophils. The Oklahoma TTP-HUS Registry enrolls all patients for whom plasma exchange (PEX) is requested for suspected TTP or HUS. Since 1995, when routine measurement of ADAMTS13 activity began, the Registry has diagnosed 78 patients with acquired TTP (ADAMTS13 <10%). During this time we have also diagnosed 17 patients with Q-TMA; 2 additional patients were diagnosed before 1995. Seventeen of these 19 patients were tested for Q-dependent antibodies; all were positive. Nine patients had a history of recurrent acute symptoms with recurrent Q exposure, including the 2 patients not tested for Q-dependent antibodies. Q exposure was a pill in 18 patients, tonic water in one. Remarkably, 18 patients were women; all 19 patients were white. Common presenting symptoms were fever, chills, nausea and vomiting. No patients had focal neurologic abnormalities. All patients had microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and acute kidney injury. Eight patients had elevated serum alanine aminotransferase (231-1345 U/L). Three patients had neutropenia (absolute neutrophil counts, 184-486). Two patients had coagulation abnormalities suggesting disseminated coagulation (DIC). One patient died from complications of the central venous catheter insertion, performed for PEX and dialysis; all other patients recovered normal platelet counts. Three of the 18 surviving patients had end-stage renal disease (2 had kidney transplants). The median estimated glomerular filtration rate (GFR) for the other 15 patients, at 2.7-19.2 years (median, 10.2) after recovery, was 36 ml/min (range, 19-98). Only two patients had normal GFR (≥90 ml/min). Eleven patients had chronic kidney disease, defined by GFR <60 ml/min. Seven of 18 patients have died 4.1-12.7 years (median, 7.8) following recovery at ages 59-87 years. Conclusion. Quinine can cause severe immune-mediated toxicities involving multiple organ systems (Am J Hematol 2016; 91: 461). Q-TMA is an acute disorder causing severe kidney injury and, in some patients, also liver toxicity, neutropenia, and/or DIC. Q-TMA is not rare. During 20 years, we enrolled 17 Q-TMA patients compared to 78 patients with acquired TTP. Chronic kidney disease is a common long-term outcome. Explicit questions are required to discover the association of systemic symptoms with quinine ingestion. Table Table. Disclosures No relevant conflicts of interest to declare.

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Translocation (X;20)(q13;q13.3): Report of Three Additional Cases.

Blood ◽

10.1182/blood.v110.11.4264.4264 ◽

2007 ◽

Vol 110 (11) ◽

pp. 4264-4264

Author(s):

Chandrika Sreekantaiah

Keyword(s):

Bone Marrow ◽

Myeloid Leukemia ◽

Bone Marrow Aspiration ◽

Unknown Etiology ◽

Acute Monocytic Leukemia ◽

Monocytic Leukemia ◽

Presenting Symptoms ◽

Recurrent Translocation ◽

History Of

We report a recurrent translocation (X;20)(q13;q13.3) in three patients. The translocation was the sole chromosomal abnormality in all three patients and the number of cells with the abnormality varied from three to seventeen out of twenty metaphases analyzed for each patient. The patients were all female with ages ranging from 66 to 83. The presenting symptoms were variable but all included a history of anemia. Bone marrow aspiration showed acute monocytic leukemia in one patient and normocellular bone marrow with no detectable morphologic or immunophenotypic evidence of neoplasm in the other two. Only eight cases with the translocation have previously been reported. Seven of these cases had either myelodysplastic syndrome or acute myeloid leukemia and one patient had pancytopenia of unknown etiology. Repeated bone marrow evaluations on this patient showed no dyspoietic changes. The t(X;20) has clearly been established as a nonrandom abnormality, however, the clinical significance of the translocation is not clear. Close follow up of these patients is therefore essential. Characterization at the molecular level will also help to determine the genes involved and the mechanism of their action.

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Vocal Folds: An Unusual Hideout for Systemic Sarcoidosis

International Journal of Medical and Pharmaceutical Case Reports ◽

10.9734/ijmpcr/2019/v12i330106 ◽

2019 ◽

pp. 1-6

Author(s):

Anis Hariz ◽

Abir Derbel ◽

Ines Kechaou ◽

Imène Boukhris ◽

Mohamed Salah Hamdi ◽

...

Keyword(s):

Vocal Fold ◽

Vocal Folds ◽

Unknown Etiology ◽

Bone Lesions ◽

Granulomatous Disease ◽

Upper Respiratory Tract ◽

History Of ◽

Upper Respiratory ◽

Systemic Sarcoidosis ◽

Phalangeal Bone

Sarcoidosis is a chronic inflammatory granulomatous disease of unknown etiology. It can expand to all organs and tissues. Lungs and lymph nodes are the most commonly involved tissues. Laryngeal sarcoidosis is rare, accounting for no more than 1% of patients with systemic sarcoidosis. We herein report the case of a 51-year-old female presenting a two-year history of persistent voice hoarseness with direct laryngoscopy findings of epiglottis swelling and irregular swelled and bruised left vocal fold. Histological examination highlighted the presence of non-caseating granulomas. Further investigations revealed similar histological findings in the nasal cavity as well as lymphocytic alveolitis. It also showed the presence of phalangeal bone lesions of both hands. All these pointed to the diagnosis of sarcoidosis with upper respiratory tract (nasal and laryngeal), lung and bone involvement. The patient was started on 0.5 mg/kg daily of prednisone for 1 month followed by progressive tapering with lasting favorable outcome.

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MON-340 Isolated Extrapulmonary Sarcoidosis Presenting as Symptomatic Hypercalcemia

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.866 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Janya Swami

Keyword(s):

Vitamin D ◽

Liver Biopsy ◽

Mental Status ◽

Calcium Absorption ◽

Granulomatous Inflammation ◽

Normal Serum ◽

Unknown Etiology ◽

Granulomatous Disease ◽

Organ Systems ◽

Sarcoidosis Present

Abstract Introduction: Sarcoidosis is a granulomatous disease of unknown etiology often involving multiple organ systems. Sarcoidosis most frequently affects the lungs, but in upto 30% of cases, can present with extrapulmonary manifestations. Less than 10% of patients with sarcoidosis present with disease at extrapulmonary sites. 10%-20% patients with sarcoidosis present with hypercalcemia. Hypercalcemia in sarcoidosis is secondary to increased intestinal calcium absorption due to increased levels of 1,25-dihydroxy Vitamin D. Clinical Case: 71-year-old Caucasian male presenting to his primary care physician with 3-week duration of fatigue, anorexia, mild confusion and unintentional weight loss was found to have moderate hypercalcemia and acute kidney injury. He was admitted the hospital for evaluation and management. Labs at admission revealed albumin-corrected calcium of 13.5 mg/dL (normal 8.5-11.0 mg/dL), creatinine of 1.78 mg/dL (normal 0.7- 1.3mg/dL) and alkaline phosphatase of 173 U/L (normal 45-117 U/L). Workup noted low PTH (3,normal 14-72 pg/mL), normal 25-hydroxy Vitamin D (50.7,normal 30-100 ng/dL), normal PTHrP and normal serum electrophoresis and immunofixation indicating non-PTH dependent hypercalcemia. 1,25-dihydroxy Vitamin D (125, normal 18-64 pg/mL) and ACE levels (159 U/L, normal 16-85 U/L) were elevated. Patient denied being on any Vitamin D supplements. A CT chest, abdomen and pelvis was done to look for occult malignancy and hepatosplenomegaly was noted with only mild compressive atelectasis of lungs. Abdominal ultrasound confirmed hepatomegaly with lobulated outer contour consistent with cirrhosis. Acute hepatitis, infectious and autoimmune work up was negative. Patient was discharged with mild improvement in calcium and mental status with hydration. Due to high suspicion for granulomatous disease, a liver biopsy was done. Liver biopsy confirmed granulomatous hepatitis with stage 2 of 4 fibrosis with numerous foci of non-caseating granulomatous inflammation. With negative acid-fast staining, no fungal organisms, absence of foreign material, normal eosinophil counts and low clinical suspicion for Crohn’s disease, a diagnosis of abdominal sarcoidosis was made. The patient was started on 10 mg prednisone daily and within one week, his albumin- corrected calcium levels improved to 10.4 mg/dL with significant improvement in appetite and mental status. Conclusion: While isolated extrapulmonary sarcoidosis is rare, it is an important cause of hypercalcemia due to elevated 1,25-dihydroxyvitamin D levels. Management of hypercalcemia secondary to sarcoidosis often consists of initiating glucocorticoids which act mainly by inhibition of 1,25-dihydroxy vitamin D synthesis in addition to inhibiting calcium absorption and osteoclast activity.

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Cardiac Involvement in Sarcoidosis Deaths in Wayne County, Michigan

Academic Forensic Pathology ◽

10.1177/1925362118797744 ◽

2018 ◽

Vol 8 (3) ◽

pp. 718-728 ◽

Cited By ~ 1

Author(s):

Milad Webb ◽

Kyle S. Conway ◽

Martin Ishikawa ◽

Francisco Diaz

Keyword(s):

Lymph Nodes ◽

Cardiac Involvement ◽

Medical Examiner ◽

Unknown Etiology ◽

Urban Centers ◽

Poor Prognostic Factor ◽

Wayne County ◽

Organ Systems ◽

Increased Risk ◽

History Of

Background: Sarcoidosis is a disease of unknown etiology characterized by the formation of noncaseating, nonnecrotizing granulomas in various organ systems. Methods: Reviews of 84 cases of natural death with sarcoidosis between the years 1996 and 2017 autopsied at Wayne County. Results: The median age of decedents was 44 years (29 – 59 years of age). Blacks comprised 95% of the cohort, and 52% were female. Sarcoidosis or direct sequelae were the cause of death in 79% of cases. Twenty-nine percent of patients had a documented history of sarcoidosis and 70% of patients had evidence of systemic sarcoidosis. The most common sites of involvement were lungs or hilar lymph nodes (92%), heart (45%), liver (39%), and spleen (30%). Decedents with cardiac involvement were more likely to have no documented history of sarcoidosis (87% vs. 59%, p=0.004), more likely to have died of a sarcoidosis-related cause (97% vs. 65%, p<0.001), and died at a younger mean age (41 years vs. 46 years, p=0.001). In addition, individuals with cardiac involvement commonly had concurrent multiorgan involvement including lungs (90%), lymph nodes (38%), liver (40%), spleen (32%), and kidneys (7%). Conclusions: Cardiac sarcoidosis is a uniquely poor prognostic factor and carries an increased risk of sudden death as shown by a disproportionate representation among medical examiner cases of sarcoidosis. Our findings suggest that approximately 40% may have asymptomatic cardiac involvement. The distribution of sarcoidosis within our cohort suggests that there is potentially a large undiagnosed and/or underdiagnosed demographic within large urban centers, such as Detroit, Michigan.

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Vulvar Sarcoidosis: Case Report and Review of the Literature

Journal of Cutaneous Medicine and Surgery ◽

10.2310/7750.2012.12083 ◽

2013 ◽

Vol 17 (4) ◽

pp. 287-290 ◽

Cited By ~ 9

Author(s):

Caridad Vera ◽

Deana Funaro ◽

Danielle Bouffard

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Foreign Body Reaction ◽

Unknown Etiology ◽

Review Of The Literature ◽

Perianal Region ◽

Multiple Organs ◽

Granulomatous Lesions ◽

History Of ◽

Hilar Adenopathy

Background: Sarcoidosis is a multisystemic disorder of unknown etiology that can affect multiple organs, including the lungs, skin, and eyes. Vulvar sarcoidosis has anecdotally been reported. Objective: The aim of this article is to describe a case of vulvar sarcoidosis and review the few cases that have been reported. Methods: We report the case of a 39-year-old woman who presented to the dermatologist with a 2-year history of vulvar pruritus. Results: Examination revealed infiltrated plaques on the vulva and perianal region. The biopsy demonstrated well-defined, nonnecrotizing granulomas in the dermis. Further investigation revealed hilar adenopathy consistent with sarcoidosis. The patient responded well to topical corticosteroids. Conclusion: In the presence of granulomatous lesions of the genital region, infectious causes, foreign body reaction, Crohn disease, and sarcoidosis should be part of the differential diagnosis.

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Development of Hodgkin lymphoma in a patient with sarcoidosis

Reumatismo ◽

10.4081/reumatismo.2017.916 ◽

2017 ◽

Vol 69 (2) ◽

pp. 84

Author(s):

F. Gediz ◽

A.F. Yilmaz ◽

B. Payzin ◽

T. Yuksel ◽

A.O. Calli ◽

...

Keyword(s):

Chronic Granulomatous Disease ◽

Hodgkin Lymphoma ◽

Female Patient ◽

Unknown Etiology ◽

Systemic Diseases ◽

Granulomatous Disease ◽

Hilar Lymphadenopathy ◽

Bilateral Hilar Lymphadenopathy ◽

Eye Lesions

Sarcoidosis is a chronic granulomatous disease of unknown etiology characterized by non-caseified granulomas in many different organs and systems. The disease most frequently manifests with bilateral hilar lymphadenopathy and infiltrations in the lungs and skin, as well as with eye lesions. It may mimic a number of systemic diseases and/or accompany them. The development of lymphoma in patients with sarcoidosis or the co-occurrence of both diseases is rarely reported in the literature. In this paper we report a female patient followed up with sarcoidosis for three years who developed Hodgkin lymphoma, according to the results of the investigations and biopsy results.

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Aortic Thrombus Embolization in A Patient with Tuberous Sclerosis

Journal of Pediatric Neurology ◽

10.1055/s-0041-1739261 ◽

2021 ◽

Author(s):

Steven Wolf ◽

Andrew Rhoads ◽

William Gomes ◽

Philip Overby ◽

Patricia McGoldrick

Keyword(s):

Cerebral Infarction ◽

Tuberous Sclerosis ◽

Genetic Disorder ◽

Altered Mental Status ◽

Unknown Etiology ◽

Benign Tumors ◽

Organ Systems ◽

Aortic Thrombus ◽

History Of ◽

The Right

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting many organ systems. Patients commonly develop a variety of benign tumors as well as neurological disease, including seizures, autism, and cognitive delay. We report here the case of an adolescent patient with TSC and a history of mild COVID-19 who presented with a 1-day history of altered mental status. The patient was found to have ischemic cerebral infarction of the right MCA and ACA territories. Initial angiography showed an occlusion of the right internal carotid artery without a demonstrable etiology, with follow-up echocardiography and angiography revealing a large aortic thrombus. The patient was not a candidate for thrombus removal due to her cerebral infarct and received medical anticoagulation. Thrombosis progressed to involve the left ICA, with left cerebral infarction and subsequent death. Aortic thrombus embolization as a cause of cerebrovascular accident (CVA) is a novel finding in the setting of TSC and should be considered for pediatric patients with CVA of unknown etiology. It is unclear whether this was related to the prior COVID-19 infection.

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Sarcoidosis of the breast: an unusual clinical presentation

Revista de Ciências Médicas e Biológicas ◽

10.9771/cmbio.v17i3.23493 ◽

2018 ◽

Vol 17 (3) ◽

pp. 403

Author(s):

Jozélio Freire Carvalho ◽

Cleófano Lima Ramos ◽

Paulus Mascarenhas Ramos ◽

Virginia Freitas de Sá Oliveira ◽

Danilo Barral de Araujo

Keyword(s):

Clinical Presentation ◽

Erythema Nodosum ◽

Pulmonary Nodules ◽

Serum Levels ◽

Unknown Etiology ◽

Histopathological Study ◽

Granulomatous Disease ◽

Mediastinal Lymph Nodes ◽

Granulomatous Lesions ◽

History Of

<pre>Introduction: Sarcoidosis is a chronic systemic granulomatous disease of unknown etiology. The breast may be involved in less than 1% of cases and often mimics carcinomas at clinical examination. Case report: Herein, the authors report a 54-year-old woman who had history of erythema nodosum, had clinical presentation suggestive of mastalgia whose mammography and ultrasound showed bilateral unspecific heterogeneous parenchymal densities. Histopathological study revealed non-caseous giant cell granulomas. Specifically, serum levels of angiotensin-converting enzyme (ACE) were elevated and a CT scan showed small bilateral pulmonary nodules distributed along the pleura and bronchovascular bundles (perilymphatic pattern), however without enlarged bilateral hilar and mediastinal lymph nodes. The patient was treated with prednisolone and methotrexate, and is currently asymptomatic. Conclusion: Breast involvement by sarcoidosis, although rare, should be considered when dealing with granulomatous lesions of the breast.</pre>

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An Uncommon Cause of a Small-Bowel Obstruction

Case Reports in Gastrointestinal Medicine ◽

10.1155/2017/1628215 ◽

2017 ◽

Vol 2017 ◽

pp. 1-4

Author(s):

Ali Zakaria ◽

Bayan Al Share ◽

Issam Turk ◽

Samira Ahsan ◽

Waseem Farra

Keyword(s):

Small Bowel ◽

Small Bowel Obstruction ◽

Bowel Obstruction ◽

Previous History ◽

Granulomatous Inflammation ◽

Giant Cells ◽

Unknown Etiology ◽

Granulomatous Disease ◽

History Of ◽

Noncaseating Granulomas

Sarcoidosis is a systemic granulomatous disease of unknown etiology, characterized by the formation of noncaseating granulomas. Gastrointestinal (GI) system involvement that is clinically recognizable occurs in less than 0.9% of patients with sarcoidosis, with data revealing small intestine involvement in 0.03% of the cases. A high index of suspension is required in patients presenting with small-bowel obstruction and previous history of sarcoidosis. Establishing a definitive diagnosis of GI sarcoidosis depends on biopsy evidence of noncaseating granulomas, exclusion of other causes of granulomatous disease, and evidence of sarcoidosis in at least one other organ system. Treatment of GI sarcoidosis depends on symptomatology and disease activity. Herein, we are presenting a case of 67-year-old female patient who had acute small-bowel obstruction at the level of jejunum with postoperative histopathologic evidence of noncaseating granulomatous inflammation with multinucleated giant cells, consistent with sarcoidosis.

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