Case Of Erdheim-Chester Disease Research Articles

Erdheim–Chester disease: An elusive diagnosis in a 50‐year‐old Ethiopian man presenting with diffuse sclerotic bone lesion

Key Clinical MessageDiagnosis of Erdheim–Chester disease (ECD) requires the clinician to be familiar with its various manifestations, classic radiologic and histologic features. This case highlights the significance of considering ECD in any patient presenting with bone pain and symmetric osteosclerosis of long bones of extremities to allow for early diagnosis and treatment.AbstractErdheim–Chester disease (ECD) is a rare non‐Langerhans histiocytic disorder with diverse clinical manifestations, ranging from indolent, localized presentation to life‐threatening, multi‐systemic disease. Delayed or erroneous diagnosis is common. The presence of classic radiographic finding along with foamy histiocytes that is positive for CD68 but negative for CD1a on histologic examination establishes the diagnosis. We report a second case of ECD from Ethiopia. A 50‐year‐old Ethiopian man presented with a 13‐year history of bilateral lower leg bone pain, cold intolerance, somnolence, constipation, impotence, decreased libido, and secondary infertility. The diagnosis was suspected when skeletal X‐ray revealed bilateral symmetric sclerosis of metadiaphysis of femur, tibia, and humerus. The demonstration of foamy histiocytes that were positive for CD68 but negative for CD1a on histologic examination with immunohistochemical staining confirmed the diagnosis. Evaluation for the extent of the disease revealed coated aorta sign, hairy kidney sign, and cystic lesion with ground glass opacity of lung, primary hypothyroidism, and hypergonadotropic hypogonadism. ECD is rare histiocytic neoplasm with wide range of clinical features which often delay the diagnosis. Clinician should be mindful of the various presentations and the classic radiographic and histologic features of ECD. This case highlights the significance of entertaining ECD in any patient presenting with lower leg bone pain and symmetric osteosclerosis of long bones of lower extremities to allow for early diagnosis and treatment.

Erdheim-chester disease with bilateral proptosis, coated aorta and hairy kidney

Erdheim-Chester disease (ECD) is a rare histiocytic disorder with a spectrum of clinical manifestations, ranging from asymptomatic single-organ involvement to multisystem disease. We present a classic case of ECD with detailed radiographic and histopathologic findings. A 63-year-old Thai female with a history of triple vessel disease post-PCI presented with bilateral proptosis and blurred vision for one year. On admission, she exhibited marked proptosis epiblepharon, lagophthalmos, conjunctival injection, chemosis, limited extraocular movement and cranial nerve II palsy. Imaging showed increased bilateral retro-orbital infiltrative lesions, osteosclerotic changes, and soft tissue thickening along the great vessels and retroperitoneum. A retro-orbital soft tissue biopsy showed foamy histiocytic proliferation with Touton giant cells. EDC was confirmed by next-generation sequencing revealing a BRAF V600E mutation. This patient received pegylated interferon-alpha. At 1-year follow-up visit, the disease remained stable. In this report, we present a classic case of EDC. The rarity of this disease makes it challenging to diagnose. The typical presentation characteristics raise awareness for the diagnosis of EDC, which is based on features such as osteosclerotic lesions in the long bones, soft tissue infiltration in medium to large vessels (coated aorta) and the bilateral pelvicalyceal systems (hairy kidney). These findings were confirmed through tissue pathology and molecular diagnostics.

Usefulness of 18F-FDG PET-CT for assessing large-vessel involvement in patients with suspected giant cell arteritis and negative temporal artery biopsy

ObjectiveTo investigate the usefulness of 18F-FDG PET-CT for assessing large-vessel (LV) involvement in patients with suspected giant cell arteritis (GCA) and a negative temporal artery biopsy (TAB).MethodsA retrospective review of our hospital databases was conducted to identify patients with suspected GCA and negative TAB who underwent an 18F-FDG PET-CT in an attempt to confirm the diagnosis. The gold standard for GCA diagnosis was clinical confirmation after a follow-up period of at least 12 months.ResultsOut of the 127 patients included in the study, 73 were diagnosed with GCA after a detailed review of their medical records.Of the 73 patients finally diagnosed with GCA, 18F-FDG PET-CT was considered positive in 61 cases (83.5%). Among the 54 patients without GCA, 18F-FDG PET-CT was considered positive in only eight cases (14.8%), which included 1 case of Erdheim-Chester disease, 3 cases of IgG4-related disease, 1 case of sarcoidosis, and 3 cases of isolated aortitis.Overall, the diagnostic performance of 18F-FDG PET-CT for assessing LV involvement in patients finally diagnosed with GCA and negative TAB yielded a sensitivity of 83.5%, specificity of 85.1%, and a diagnostic accuracy of 84% with an area under the ROC curve of 0.844 (95% CI: 0.752 to 0.936). The sensitivity was 89% in occult systemic GCA and 100% in extracranial LV-GCA.ConclusionOur study confirms the utility of 18F-FDG PET-CT in patients presenting with suspected GCA and a negative TAB by demonstrating the presence of LV involvement across different subsets of the disease.

Erdheim-Chester Disease with Pancreatic Enlargement Observed Using Contrast-enhanced Endoscopic Ultrasonography.

We herein report an unusual case of Erdheim-Chester disease (ECD), a rare non-Langerhans cell histiocytosis, and emphasize its unique presentation and diagnostic challenges. Our patient exhibited uncommon symptoms and significant organ involvement, particularly pancreatic enlargement that is not typically associated with ECD. Contrast-enhanced harmonic endoscopic ultrasonography (CEH-EUS) and EUS-fine needle aspiration (EUS-FNA) play crucial roles in the comprehensive assessment of the disease, demonstrating their superiority in identifying and characterizing elusive ECD lesions. This is the first report to document pancreatic lesions in patients with ECD evaluated using CEH-EUS. EUS-FNA is valuable for diagnosing rare diseases, including ECD, with diffuse pancreatic enlargement.

Recurrent petit mal seizures in Erdheim-Chester disease mimicking an intra-axial brain tumor: illustrative case.

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized histologically by foamy histiocytes and Touton giant cells in a background of fibrosis. Bone pain with long bone osteosclerosis is highly specific for ECD. Central nervous system involvement is rare, although dural, hypothalamic, cerebellar, brainstem, and sellar region involvement has been described. A 59-year-old man with a history of ureteral obstruction, medically managed petit mal seizures, and a left temporal lesion followed with serial magnetic resonance imaging (MRI) presented with worsening seizure control. Repeat MRI identified bilateral amygdala region lesions. Gradual growth of the left temporal lesion over 1 year with increasing seizure frequency prompted resection. A non-Langerhans cell histiocytosis with a BRAF V600E mutation was identified on pathology. Imaging findings demonstrated retroperitoneal fibrosis and long bone osteosclerosis with increased fluorodeoxyglucose uptake that, together with the neuropathologic findings, were diagnostic of ECD. This case of biopsy-proven ECD is unique in that the singular symptom was seizures well controlled with medical management in the presence of similarly located bilateral anterior mesial temporal lobe lesions. Although ECD is rare intracranially, its variable imaging presentation, including the potential to mimic seizure-associated medial temporal lobe tumors, emphasizes the need for a wide differential diagnosis.

Histiocytic Lesion Masquerading as Interstitial Lung Disease—A Case Report

Erdheim Chester Disease (ECD) is a rare histiocytic neoplasm with heterogeneous features. It can frequently be misdiagnosed if proper clinical and radiological details are not available. Biopsy with confirmatory immunohistochemistry (IHC) for BRAFV600E or molecular analysis for the gene forms the mainstay of diagnosis. Most ECD patients require treatment and the choice of therapy must be individualized based on clinical characteristics. Herein is reported one such case of ECD in a 45-year-old male who remains disease-free after six months of follow-up.

NEUROHISTIOCYTOSIS: TWO CASES OF A RARE DISEASE

Histiocytosis is a rare systemic disease, with heterogeneous and diverse clinical and radiological presentations. Diagnosis can therefore be intriguing. Several consensus recommendations have emerged in recent years, particularly with the advent of targeted therapies, changing the management and prognosis. The authors present two cases of neurohistiocytosis. The case of Langerhans cell histiocytosis was about an adolescent with polyuria-polydipsic syndrome in whom a cerebellar biopsy was inconclusive. The patient was lost to follow-up for one year and then returned with a multisystemic neurological, bone, and dermatological presentation. The diagnosis was confirmed based on skin biopsy results. The patients condition rapidly deteriorated after chemotherapy with vinblastine and corticosteroids, leading to his death. The case of Erdheim-Chester disease was about a 53-year-old man who presented with cerebellar syndrome. His biological and radiological workup showed neurological, endocrine (diabetes insipidus) renal (hairy kidney), and bone (fibrosis) involvement. The diagnosis was confirmed by femoral biopsy and the patient was treated with Cladribine with an excellent evolution with an 18-month follow-up. This manuscript aims to report our personal experience and underline the entitys heterogeneity, non-specificity, and repercussions.

Erdheim-Chester disease with a late onset cardiovascular manifestations: A case report

Introduction: Erdheim-Chester disease (ECD) is an uncommon non Langerhans cell histiocytosis. Bilateral symmetric sclerosis of the long bones and probable multiorgan involvement are the main manifestations of this condition. Here, we report a case of ECD showing diffuse thickening of the aorta’s entire wall and pericardial effusion.

Erdheim-Chester Disease Involving the Left Uterine Adnexa: Mimicking an Ovarian Carcinoma Clinically.

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis (LCH) that results in multiorgan disease involving the skin, bones, lungs, and kidneys. Female reproductive system manifestation of ECD was rare. Herein, we report a case of ECD involving the left ovary and fallopian tube. A 69-year-old woman presented with abdominal pain for 20 days. Magnetic resonance imaging revealed a solid and cystic mass on the left pelvic cavity. Histological examination revealed ovarian and fallopian tube infiltration by abundant histiocytes, with single small nuclei and foamy cytoplasm, reactive small lymphocytes, and plasma cells. Based on histopathological and immunohistochemical findings of positivity for CD68, CD163, and BRAF V600E and negativity for CD1α and S100, the molecular finding of BRAF V600E mutation, the patient was diagnosed with ECD. Positron emission tomography examination did not reveal any other lesions. The patient recovered well 12 months after surgery without any treatment. ECD involving the left fallopian tube and ovary was rare and needed to be differentiated from LCH, Rosai-Dorfman disease (RDD), juvenile xanthogranuloma (JXG), IgG4+-related disease (IgG4+RD), and metastatic signet ring cell carcinoma.

A rare cause of central diabetes insipidus with arthritis (Erdheim-Chester disease)

Abstract Mr. Haider is a 26-year-old resident doctor who presented with intermittent fever relieved by NSAIDS fatigue, weakness, loss of libido, fever with no rigor, night sweat, bone, joint pain and knee swelling. He lost weight. He was diagnosed with central chronic D.I for the last 3 years after several weeks history of polyurea and thirst without identifiable cause which follows elbow fracture with trivial trauma and was taking nasal desmopressin as required. His last symptoms were followed a Covid 19 attack. Physical examination reveals high fever 39 °C, pallor, thin built, no thyroid or lymph node enlargement. Chest examination is normal with no organomegaly on abdominal examination. Knee examination shows swollen red tender joint. Initial investigation shows ESR 110 mm/hr. CRP 10 mg/dl Negative screening for tuberculosis, hepatitis, HIV, vasculitis and Brucellosis. Normal kidney and liver function tests and electrolytes.Mild hyopochromic anemia. Normal free T4 and TSH, prolactin and cortisol. Normal SHBG Low morning testosterone twice 60 ng/dl. and 64 ng/dl. FSH and LH normal Normal Dexa scan. Thus till now there is feature of hypogonadism, D.I and arthritis. Due to low testosterone MRI pituitary requested and reveals small size pituitary gland, absent post bight spot with mild thickening of the pituitary stalk with no mass lesion. Suspicion of inflammatory or infiltrative lesion of pituitary was raised. For proximal tibial lesion bone biopsy was done and revealed marked fibrosis with infiltration of bone marrow by foamy cells with multinucleated cells positive for CD 68 and negative for CD 1a by immunohistochemistry. Further evaluation by PET scan confirms the diagnosis and shows multifocal hypermetabolic symmetrical bone lesions most intense around elbows and knees consistent mostly with Erdheim Chester disease (ECD). Patient was treated with testosterone injections with improved libido and consultation with oncologist was done to arrange the need for chemotherapy. Molecular and genetic test is not available in Iraq and a sample was sent abroad. To our knowledge this is the first reported case of ECD in Iraq. Figure 1. PET image.

A Case of Erdheim-Chester Disease Causing Secondary Sclerosing Cholangitis

Erdheim-Chester disease (ECD) is an exceedingly rare and aggressive disease characterized by foamy CD68 + CDa-histiocytic infiltration into multiple tissues and organs. Only 1,500 cases have been diagnosed since 1930 when ECD was first described. Biliary tract involvement of ECD has only been reported in the literature once. We report a case of ECD causing extrahepatic biliary obstruction without significant bile duct dilation, mimicking primary sclerosing cholangitis or IgG4 disease.

PMON110 Panhypopituitarism as a Rare Presentation of Erdheim – Chester disease (ECD) in an Adolescent Patient

Abstract Background Erdheim-Chester disease (ECD) is a rare multisystemic histiocytic disorder. Only a dozen pediatric cases are reported. Here, we present a case of ECD in a pediatric patient who presented with short stature and delayed puberty. Clinical Case A 14-year-old male with history of autism and ADHD presented with short stature and pubertal delay. He grew along the 40th percentile until age 7 years when growth velocity declined. On exam, his height was 145.6 cm (0.98%ile, z-score -2.34), weight was 55.6 kg (63.19%ile, z-score 0.34), and testicular size was 5-6 mL. He had increased thirst and episodes of bedwetting since age 7. Bone age was delayed at 11 years 6 months. Further workup was recommended, but family was lost to follow up. At 16, he returned with continued poor growth, polydipsia, and nocturia. Height was 153 cm (0.26%ile, z-score -2.80), weight 61.1 kg (40%ile, z-score -0.25). Labs revealed IGF-BP3 2.8mcg/mL(3.1-8.9), IGF-1 35ng/mL(245-522), LH 1.2mIU/mL(0.29-4.77), and total testosterone <7.0 ng/dL(250-1100). Prolactin, cortisol, thyroid, and karyotype were normal. Growth hormone (GH) stimulation test confirmed GH deficiency. He was referred to oncology clinic when a brain MRI revealed a nodular enhancing suprasellar mass extending from the third ventricular floor to the dorsum sella along the pituitary stalk and rounded sclerotic lesion in the frontal bone. Biopsy of the suprasellar lesion was remarkable for foamy histiocytes positive for CD68, negative for S100 and CD1a, an eosinophilic cell background highlighted by S100 and synaptophysin, SALL4 negative. A diagnosis of xanthomatous hypophysitis was made. Additionally, lab studies confirmed diabetes insipidus (DI), treated with DDAVP. Growth hormone was trialed for 2 weeks, but he developed acute pancreatitis, so it was discontinued. He subsequently developed recurrent pancreatitis of unclear etiology requiring frequent hospitalization with development of insulin-dependent diabetes mellitus due to pancreatic damage. He was lost to follow up for 12 months after leaving home at age 18. He returned to our institution after incidental findings of 7th right rib expansile lytic bony lesions on abdominal CT during a pancreatitis admission. Biopsy of the rib lesion was positive for a BRAF-V600E mutation. Skeletal survey revealed new multiple small lytic skull lesions. Repeat brain MRI demonstrated new calvarial lesions, increased suprasellar mass. Chest CT scan showed a micronodular pattern with mediastinal lymph node enlargement. PET confirmed widespread multifocal FDG hypermetabolic lesions. Final diagnosis of ECD was made; he was started on targeted therapy with Vemurafenib, a BRAF inhibitor. Conclusion Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis, which rarely affects pediatric patients who present with bone pain and DI; however, here we present a case of ECD in an adolescent with short stature and multiple pituitary deficiencies to highlight the varied presentation of the disorder. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.

A rare case of Erdheim-Chester disease as the underlying cause of cranial diabetes insipidus

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

PRESENTATION ATYPIQUE DE LA MALADIE DERDHEIM-CHESTER :ATTEINTE PULMONAIRE PSEUDO-TUMORALE SANS ATTEINTE OSSEUSE ET REVUE DE LITTERATURE

Erdheim-Chester disease (ECD) is a rare form of non-Langerhansian histiocytosis classified by WHO since 2016 as a group L hematological neoplasia. Its pathophysiology is very complex and its multi-systemic character explains the plurality of clinical-radiological presentations. Bone involvement is almost constant while associated lung involvement is found in 50% of cases with non-specific clinical signs such as dyspnea and cough. Imaging provides an undeniable diagnostic contribution but confirmation of ECD is based on histopathology with immunohistochemical study. The search for the BRAF mutation by molecular biology has innovated the therapeutic management.The aim of our report is to relate a rare case of Erdheim-Chester disease in a 40-year-old man with an atypical pulmonary pseudotumor presentation without bone involvement and the diagnosis difficulty faced. Reporting of this type of aggressive disease should have an impact on early diagnosis and better prognosis.

Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature.

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis caused by the expression of CD68-positive and CD1a-negative foam tissue cells, which is polar in pediatric patients. The study reports a case of an 8-year-old Chinese boy who presented with polydipsia and polyuria for 4 years, followed by central nervous system symptoms. Magnetic resonance imaging (MRI) showed a large lesion in the lateral ventricle. The histiocytes stained positively for CD68, CD163 and negatively for CD1a, glial fibrillary acidic protein (GFAP) and langerin, and were partially positive for S100 by immunohistochemical assay. More importantly, BRAFV600E staining was positive in tissue, and the BRAFV600E mutations was also detected by real-time quantitative PCR (RT-qPCR) in the intracranial lesion tissue. According to our review of the literature, this is a rare case of ECD in the ventricle, with a younger age.

A Case of Erdheim-Chester Disease with Omental Caking Initially Mistaken for a Malignancy

Introduction: Erdheim-Chester disease (ECD) is an uncommon non-Langerhans cell histiocytosis. Bilateral symmetric sclerosis of the long bones and possible multiorgan involvement are the main presentations of this disease. Histologically, lipid-laden foamy histiocytes are positive immunochemically for CD68 (occasionally for PS100) and negative for S100 and CD1a in ECD. Case Presentation: We describe the case of a 35-year-old man diagnosed with ECD with peritoneal and retroperitoneal infiltrations and bone involvement. The diagnosis of ECD was only confirmed after two years of non-specific abdominal pain, nausea, and weight loss. Primarily, the patient’s clinical symptoms and abdominal computed tomography (CT) findings, which indicated omental caking, peritoneal thickening, and perinephric soft tissue density, suggested an intra-abdominal malignancy. Finally, a peritoneal biopsy was carried out, which demonstrated xanthogranulomatous infiltrations from ECD. Further radiographic skeletal survey based on histopathological results showed symmetric osteosclerosis of the long bones. Conclusion: Although ECD, associated with peritoneal and retroperitoneal infiltrations, is an uncommon finding, it should be included in the differential diagnosis of patients with non-specific gastrointestinal manifestations, along with multiorgan involvement and typical radiological findings.

Solitary Radiolucent Erdheim-chester Disease: A Case Report and Literature Review

Background: Erdheim-chester disease (ECD) is a rare non-Langerhans histiocytosis of unknown etiology, which typically presents with bilateral symmetric osteosclerosis and multi-organ involvement. Lesions may be intraosseous or extraosseous and involve the heart, pulmonary system, CNS, and skin in order of decreasing likelihood. Objective: The objective of this study is to discuss a case of erdheim-chester disease and conduct a review of the literature. Case: We describe a rare case of erdheim-chester in an asymptomatic 37-year-old male who was diagnosed after suffering a right ulnar injury. Subsequent evaluation revealed a solitary radiolucent ulnar lesion without multi-system involvement. Results & Conclusion: The case is unique in its solitary distribution, lytic radiographic appearance, and asymptomatic presentation preceding pathologic fracture. This presentation may simulate multiple other bone lesions.

English

Erdheim-Chester disease (ECD) is a rare, multisystem disorder with a constellation of clinical and radiological findings. We present a case of ECD who came with acute obstructive uropathy and chronic bone pain. Radiological work up in this patient led to a host of findings in various systems, the correlation of which led to narrowing of the differential diagnoses. A 44-year-old male presented with right loin pain and nausea for 1-day duration. A provisional diagnosis of right ureteric colic was made. Routine lab investigations revealed normal total counts and urine analysis. Additional laboratory investigations revealed a raised erythrocyte sedimentation rate (ESR) and Creactive protein (CRP). Radiological Investigations 1. Patient was referred for ultrasound of abdomen which revealed mild to moderate right hydronephrosis with a suspicious hypoechoic area (~ 0.7 x 1.2 cm) in the renal pelvis region raising possibility of a lesion. 2. Contrast computed tomography (CT) study of abdomen was performed which revealed enhancing soft tissue infiltration (+30 to +45 HU) around bilateral kidneys (giving ‘hairy kidney appearance’) (Figures 1, 2 & 3) and adrenal glands with infiltration to renal sinus and constriction of bilateral renal pelves resulting in moderate right and mild left hydronephrosis. Thin streak of excreted contrast was traversing the narrowed segment of renal pelves (Figures 4 & 5). 3. Soft tissue infiltration covering the visualized thoracic and abdominal aorta (giving ‘coated aorta appearance’) (Figures 6 & 7), extending below renal arteries to aortic bifurcation and proximal bilateral common iliac arteries. 4. The adrenal glands were not separately visualized from the above mentioned perinephric soft tissue. 5. Both ureters were normal in course and caliber. No evidence of ureteric calculus. 6. No significant retroperitoneal lymphadenopathy. 7. Few tiny centriacinar nodules with patchy ground glass opacities in postero basal segment of both lungs (left > right) (Figure 8).

A rare case of erdheim-chester disease with braf mutation – a case report

Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm with multisystemic involvement, commonly involving the bones, cardiovascular organs and retroperitoneal region. We report a 68-year-old female who was admitted due to a fall following an episode of dizziness, and was noted to have a retroperitoneal soft tissue mass involving the bilateral perinephric spaces and bowel mesentery, which extended superiorly into the thoracic cavity, causing encasement of the ureters, adrenal glands and major vessels. A biopsy revealed a histiocytic infiltrate with foamy cytoplasm, which was positive for CD163, fascin and factor XIIIa on immunohistochemical staining, but was negative for CD1a, S100, AE1/3 and HMB45. Molecular testing for BRAF was positive. The overall clinical, imaging and histology findings were supportive of a diagnosis of ECD. Awareness of this entity and exclusion of its differential diagnoses is important to ensure correct diagnosis for subsequent targeted therapy. 1.Brousse N, Pileri SA, Haroche J, et al. Erdheim Chester disease. In: Swerdlow SH, Campo E, Harris NL, et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue. Revised 4th ed. Lyon: IARC, 2017; 481–2.2.Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood 2020; 135: 1929–45.3.Aubart FC, Emile JF, Carrat F, et al. Targeted therapies in 54 patients with Erdheim-Chester disease, including follow-up after interruption (the LOVE study). Blood 2017; 130: 1377–80.

Orbital mass and hairy kidney as characteristics of Erdheim-Chester disease.

Erdheim‐Chester disease (ECD) is a rare non‐Langerhans cell histiocytosis, involving multiple organs. We report a case of ECD with typical features of an orbital mass and "hairy kidneys," whose recognition can lead to early diagnosis and treatment.