scholarly journals Diseases with major salivary glands enlargement and orbits, nose and paranasal sinuses lesions in the practice of a rheumatologist

2021 ◽  
Vol 15 (6) ◽  
pp. 33-40
Author(s):  
E. V. Sokol ◽  
A. V. Torgashina ◽  
B. D. Chaltsev ◽  
Yu. I. Khvan ◽  
O. A. Golovina
Keyword(s):  
Paranasal Sinuses ◽  
Langerhans Cell Histiocytosis ◽  
Inflammatory Pseudotumor ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Atrophic Rhinitis ◽  
Al Amyloidosis ◽  
Igg4 Related Disease ◽  
Septum Perforation ◽  
Nasal Septum Perforation

Objective: to analyze the nosological spectrum, demographic, clinical and laboratory characteristics of diseases with a significant enlargementof major salivary (SG) / lacrimal glands, and/or accessory organs of the eye and paranasal sinuses lesions in rheumatological practice.Patients and methods. This work includes 73 patients who underwent a complex clinical and laboratory, imaging, pathomorphological and histomolecular examination, which was necessary to establish a nosological diagnosis. In all cases, the diagnosis was confirmed pathomorphologically.Results and discussion. Sjogren's syndrome (SjS) was diagnosed in 30 (41%) patients (14 of them developed lymphoproliferative disorder, LPD, as a complication), granulomatosis with polyangiitis (GPA) – in 12 (16.4%), IgG4-related disease (IgG4-RD) – in 10 (13.7%), sarcoidosis – in 6 (8.2%), non Langerhans cell histiocytosis – in 2 (2.7%), AL-amyloidosis – in 1 (1.4%), Warthin's tumor – in 1 (1.4%), chronic atrophic rhinitis – in 1 (1.4%), infectious lesions – in 3 (4.1%) (HIV-associated – in 2, dirofilariasis – in 1), idiopathic inflammatory pseudotumor – in 6 (8.2%). In 1 (1.4%) patient, the diagnosis could not be established.A massive increase of major SG was observed in 46 patients, more often (in 28 cases) with SjS with LPD or without it, with IgG4-RD (in 7) and sarcoidosis (in 6). Orbital lesions were observed in 18 patients: in 7 with IgG4-RD, in 5 with idiopathic inflammatory pseudotumor, in 2 with sarcoidosis, in 2 with GPA, and in 1 each with non Langerhans cell histiocytosis and dirofilariasis. Nasal lesions in the form of chronic rhinosinusitis with or without nasal septum perforation, were found in 18 patients, 12 of whom suffered GPA and 6 – IgG4-RD.Two algorithms, that can facilitate the choice of additional studies and the direction of diagnostic search have been proposed for practicing rheumatologists.Conclusion. Taking into account the possible similarity of clinical manifestations of the diseases with the formation of mass-like tissue, the differential diagnosis should be based on pathomorphological study.

scholarly journals A Case Report of Pediatric Langerhans Cell Histiocytosis: Current Approach and Diagnostic Challenges for Dermatologist

2020 ◽  
Vol 12 (3) ◽  
pp. 79-86
Author(s):  
Irwan Junawanto ◽  
Khairuddin Djawad ◽  
Sri Rimayani ◽  
Farida Tabri ◽  
Nurelly N. Waspodo ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Poor Prognosis ◽  
Clinical Manifestations ◽  
Current Approach ◽  
Myeloproliferative Disorder ◽  
Langerhans Cell ◽  
Histopathologic Examination ◽  
Chemotherapy Treatment ◽  
Cutaneous Manifestations ◽  
Patient Organ

Abstract Langerhans Cell Histiocytosis (LCH) is a chronic and rare myeloproliferative disorder caused by disorders in Lang-erhans cell proliferation in various organs and tissues. LCH has a wide variety of clinical manifestations, making it difficult to diagnose. Cutaneous manifestations are polymorphic in the form of purpura, papule, vesicles and pustules. LCH can involve vital organs such as the liver and lungs as well as the hematopoiesis system that usually gives a poor prognosis. The prognosis is also influenced by the age of patient, organ dysfunction and response to the first 6 weeks of chemotherapy treatment. A 3-year-old girl reported a major complaint of an abscess-like lesion in the region of neck accompanied by an extensive purpura of scalp, neck and inguinal areas accompanied by vulvar erosions. The immunohistochemical and histopathologic examination support LCH and the clinical improvement after intravenous administration of intravenous 3 mg/m2 Vinblastine chemotherapy, 75 mg/m2 etoposide, oral 40 mg/m2 per prednisone. After the 6th cycle of chemotherapy, the patient died.

scholarly journals Biological and clinical significance of somatic mutations in Langerhans cell histiocytosis and related histiocytic neoplastic disorders

Hematology ◽  
2015 ◽  
Vol 2015 (1) ◽  
pp. 559-564 ◽  
Author(s):  
Carl E. Allen ◽  
D. Williams Parsons
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Somatic Mutations ◽  
Mapk Pathway ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Braf V600e ◽  
Common Mechanism ◽  
Recurrent Mutations ◽  
Wide Range ◽  
Neoplastic Disorders

AbstractLangerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG), and Erdheim–Chester disease (ECD) represent histiocytic disorders with a wide range of clinical manifestations. Until recently, mechanisms of pathogenesis have been speculative and debate has focused on classification of these conditions as reactive versus neoplastic. Genomic studies have been challenged by scarce tissue specimens, as well as heterogeneous nature of the lesions with variable infiltration of pathologic histiocytes. Whole-exome sequencing recently revealed a very low frequency of somatic mutations in LCH, JXG, and ECD compared to other neoplastic disorders. However, at least in the cases of LCH and ECD, there is a very high frequency of activating mutations in MAPK pathway genes, most notably BRAF-V600E, as well as MAP2K1, in LCH and NRAS in ECD. In ECD, recurrent mutations in the PI3K pathway gene PIK3CA have also been described. The heterogeneous clinical manifestations of these disorders may therefore be the cumulative result of activation of MAPK mutations (along with modifying signals from other pathways) at distinct stages of myeloid differentiation. Implications of this model include redefinition of LCH, JXG, and ECD as a group of clinically diverse myeloid neoplastic disorders with a common mechanism of pathogenesis. This model supports refocusing therapeutic strategies for these diseases on a personalized approach based on specific mutations and the cell(s) of origin.

scholarly journals MR imaging features of orbital Langerhans cell Histiocytosis

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Chunnan Wu ◽  
Kuncheng Li ◽  
Yan Hei ◽  
Pengyu Lan ◽  
Xuetao Mu
Keyword(s):  
Mr Imaging ◽  
Diagnostic Accuracy ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Imaging Features ◽  
Mri Findings ◽  
Palpable Mass ◽  
Hyperintense Signal ◽  
Mri Features

Abstract Background To investigate the magnetic resonance imaging (MRI) features of orbital Langerhans cell histiocytosis (LCH) to improve diagnostic accuracy. Methods We retrospectively reviewed clinical manifestations and MRI findings of 23 patients with histopathology-confirmed LCH of the orbit. The findings were evaluated for the following: (a) symptoms, (b) disease duration, (c) location, (d) configuration, (e) margin, (f) MR imaging signal intensity and enhanced performance. Results Eighteen patients (78%) in our series were male, only five (22%) patients were female, and the mean age at presentation was 6.3 years. The common symptoms include swollen eyelids, exophthalmos, and a palpable mass. Fourteen patients presented with swollen eyelids and/or exophthalmos. Twenty-two cases involved unilateral orbits, and one case involved bilateral orbits. In our study, there was one patient with cough and expectoration, and one patient with polydipsia and polyuria. Lesions were located in the superior or superlateral orbital roof of seventeen patients (74%). Lesions formed masses or irregular shapes. The 12 out of 23 (52.2%) cases appeared heterogeneous isointense and 10 out of 23 (43.5%) cases showed iso-hypointense on T1-weighted imaging, there were 15 out of 23 (65.2%) cases showed hyper-hypointense mixed signals on T2-weighted imaging. 7 cases found patchy hyperintense signal on T1WI, and 11 cases showed markedly hyperintense signal near the edge of lesions on T2WI. After enhancement, 21 out of 23 (91.3%) cases lesions presented marked enhancement at the edges and the surrounding tissues, and with heterogeneous obvious enhancement of the lesion center. Besides, four cases lesions were surrounded by a low circular signal. Conclusion There were several characteristics MRI features that can provide crucial information for clinicians and improve our understanding and the diagnostic accuracy of the orbital LCH.

Langerhans Cell Histiocytosis: A Clinicopathologic Review and Molecular Pathogenetic Update

2015 ◽  
Vol 139 (10) ◽  
pp. 1211-1214 ◽  
Author(s):  
Charles M. Harmon ◽  
Noah Brown
Keyword(s):  
Risk Stratification ◽  
Langerhans Cell Histiocytosis ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Molecular Pathogenesis ◽  
Molecular Characteristics ◽  
Reactive Process ◽  
Pathologic Features ◽  
Clinical Disorders

Langerhans cell histiocytosis (LCH) comprises a wide spectrum of clinical disorders that have in common a proliferation of Langerhans-type cells with characteristic morphologic, immunophenotypic, and ultrastructural features. In part because of the diverse clinical manifestations of LCH, there has long been controversy over whether LCH is best considered a reactive process or a neoplasm. Herein, we discuss the clinical and pathologic features of LCH, including recent advances in the understanding of the molecular pathogenesis of this disease that support its categorization as a neoplasm. We also review the implications that these recently described molecular characteristics may have on risk stratification and treatment of LCH.

scholarly journals MR Imaging Features of Orbital Langerhans Cell Histiocytosis

2019 ◽  
Author(s):  
chunnan wu ◽  
xuetao Mu ◽  
yan Hei ◽  
pengyu lan ◽  
kuncheng li
Keyword(s):  
Mr Imaging ◽  
Diagnostic Accuracy ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Imaging Features ◽  
Mri Findings ◽  
Palpable Mass ◽  
Hyperintense Signal ◽  
Mri Features

Abstract Background: To investigate the magnetic resonance imaging (MRI) features of orbital Langerhans cell histiocytosis (LCH) to improve diagnostic accuracy. Methods: We retrospectively reviewed clinical manifestations and MRI findings of 23 patients with histopathology-confirmed LCH of the orbit. The findings were evaluated for the following: (a) symptoms, (b) disease duration，(c) location, (d) configuration, (e) margin, (f) MR imaging signal intensity and enhanced performance. Results: Eighteen patients (78%) in our series were male, only five (22%) patients were female, and the mean age at presentation was 6.3 years. The common symptoms include swollen eyelids, exophthalmos, and a palpable mass. Fourteen patients presented with swollen eyelids and/or exophthalmos. Twenty-two cases involved unilateral orbits, and one case involved bilateral orbits. In our study, there was one patient with cough and expectoration, and one patient with polydipsia and polyuria. Lesions were located in the superior or superlateral orbital roof of seventeen patients (74%). Lesions formed masses or irregular shapes. The 12 out of 23 (52.2%)cases appeared heterogeneous isointense and 10 out of 23 (43.5%) cases showed iso-hypointense on T1-weighted imaging, there were 15 out of 23 (65.2%) cases showed hyper-hypointense mixed signals on T2-weighted imaging. 7 cases found patchy hyperintense signal on T1WI, and 11 cases showed markedly hyperintense signal near the edge of lesions on T2WI. After enhancement, 21 out of 23 (91.3%) cases lesions presented marked enhancement at the edges and the surrounding tissues, and with heterogeneous obvious enhancement of the lesion center. Besides, four cases lesions were surrounded by a low circular signal. Conclusion: There were several characteristics MRI features that can provide crucial information for clinicians and improve our understanding and the diagnostic accuracy of the orbital LCH.

scholarly journals Letterer Siwe Disease (LSD): A Case Report

2018 ◽  
Vol 13 (3) ◽  
pp. 207
Author(s):  
Suad H H ◽  
Mona Mohamed Elamin ◽  
Gad Allah Modawe ◽  
Khalid AbdElmohsin Awad Elseed
Keyword(s):  
Dendritic Cells ◽  
Case Report ◽  
Rare Disease ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
The Body ◽  
System Disease

 Background: Letterer Siwe Disease (LSD) is one of variants of langerhans cell histiocytosis (LCH) which is considered as a rare disease that affects many systems in the body, it is characterized by monoclonal migration and proliferation of specific dendritic cells. The disease affects the bones and skin primarily, but can involve other organs as well or appear as a multi-system disease leading to different clinical manifestations and eventually death.

scholarly journals Clinical characteristics and outcomes of Langerhans cell histiocytosis at a single institution in Thailand: a 20-year retrospective study

2021 ◽  
Vol 15 (4) ◽  
pp. 171-181
Author(s):  
Ponrachet Kitticharoenjit ◽  
Nucharin Supakul ◽  
Piya Rujkijyanont ◽  
Chanchai Traivaree ◽  
Apichat Photia ◽  
...  
Keyword(s):  
Prognostic Factors ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Organ Involvement ◽  
Bone Imaging ◽  
X Ray ◽  
Wide Range ◽  
Conjugated Hyperbilirubinemia

Abstract Background Langerhans cell histiocytosis (LCH) is a rare disease characterized by the various systems involved and clinical manifestations with a wide range of symptoms. Objectives To describe clinical characteristics, imaging, treatment, and outcomes of pediatric LCH at Phramongkutklao Hospital, Bangkok, Thailand. Methods We conducted a 20-year retrospective review of the medical records of patients diagnosed with LCH from birth to 21 years old from January 1, 1997, to December 31, 2016. Results In all, 14 patients with median age of 2.5 years were studied. Six (43%) patients had single-system (SS) LCH. Five patients (63%) with multisystem (MS) LCH (n = 8. 57%) had risk-organ involvement (RO+). All patients had plain X-ray imaging of their skull with 11 (79%) showing abnormal findings. Tc-99m bone imaging and fluorodeoxyglucose F18 (FDG) positron emission tomography (PET)-computed tomography (CT) demonstrated abnormal findings in 8 (89%) and 4 (29%) patients, respectively. The 5-year event-free survival (EFS) for patients with RO+ MS-LCH was less than that for those without risk-organ involvement (RO−) MS-LCH and SS-LCH (20% vs. 100%, P = 0.005). Hematological dysfunction, hypoalbuminemia, and conjugated hyperbilirubinemia may be worse prognostic factors for RO+ MS-LCH. Conclusion FDG-PET-CT might have a greater accuracy to detect LCH disease than conventional plain X-ray and Tc-99m bone imaging. RO+ MS-LCH has been encountered with relapse and poor outcomes. Hematopoietic involvement, hypoalbuminemia, and conjugated hyperbilirubinemia may be worse prognostic factors for RO+ MS-LCH.

scholarly journals Langerhans cell histiocytosis in an adult patient

2019 ◽  
Vol 95 (4) ◽  
pp. 57-66
Author(s):  
A. E. Karamova ◽  
V. V. Chikin ◽  
L. F. Znamenskaya ◽  
M. A. Nefedova ◽  
V. A. Mikhina ◽  
...  
Keyword(s):  
Skin Biopsy ◽  
Adult Patient ◽  
Langerhans Cell Histiocytosis ◽  
Immunohistochemical Study ◽  
Histological Study ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Lesion Area ◽  
Cell Markers ◽  
S 100

Aim: to present a clinical case of a rare dermatosis — Langerhans cell histiocytosis (LCH) in an adult patient.Materials and methods. A clinical and laboratory examination of a 64-year-old woman who had complained of rashes on the skin of the scalp, neck, trunk and lower extremities accompanied by itching was carried out. A histological study of skin biopsy samples from the lesion area, as well as an immunohistochemical study of Langerhans cell markers — langerin and S-100 protein — were performed.Results. Clinical manifestations of the disease, the presence of histiocytic infiltrate in the epidermis and dermis during the histological study and immunohistochemical detection of langerin infiltrate cells and S-100 protein were all consistent with the diagnosis of LCH. The therapy with methotrexate subcutaneously significantly improved the patient’s condition.Conclusion. Verification of the LCH diagnosis requires a histological study of skin biopsy samples and an immunohistochemical study of Langerhans cell markers. The efficacy of methotrexate in the treatment of this disease has been confirmed.

scholarly journals MR Imaging Features of Orbital Langerhans Cell Histiocytosis

2019 ◽  
Author(s):  
chunnan wu ◽  
xuetao Mu ◽  
yan Hei ◽  
pengyu lan ◽  
kuncheng li
Keyword(s):  
Mr Imaging ◽  
Diagnostic Accuracy ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Manifestations ◽  
Langerhans Cell ◽  
Imaging Features ◽  
Mri Findings ◽  
Palpable Mass ◽  
Orbital Roof ◽  
Mri Features

Abstract Background: To investigate the magnetic resonance imaging (MRI) features of orbital Langerhans cell histiocytosis (LCH) to improve diagnostic accuracy. Methods: We retrospectively reviewed clinical manifestations and MRI findings of 23 patients with histology-confirmed LCH of the orbit. The findings were evaluated for the following: (a) symptoms, (b) disease duration，(c) location, (d) configuration, (e) margin, (f) MR imaging signal intensity and enhanced performance. Results: Eighteen patients (78%) in our series were male, only five (22%) patients were female, and the mean age at presentation was 6.3 years. The common symptoms include swollen eyelids, exophthalmos, and a palpable mass. Fourteen patients presented with swollen eyelids and/or exophthalmos. Twenty-two cases involved unilateral orbits, and one case involved bilateral orbits. In our study, there was one patient with cough and expectoration, and one patient with polydipsia and polyuria. Lesions were located in the superior or superlateral orbital roof of seventeen patients (74%). Lesions formed masses or irregular shapes. The majority of lesions appeared heterogeneous isointense and iso-hypointense on T1-weighted imaging and hyper-hypointense mixed signals on T2-weighted imaging. The appearance of hemorrhage and cystic change were usually seen in lesions. After enhancement, majority lesions presented marked enhancement at the edges and the surrounding tissues, and with heterogeneous obvious enhancement of the lesion center. Besides, several lesions were surrounded by a low circular signal. Conclusion: There were several characteristics MRI features that can provide crucial information for clinicians and improve our understanding and the diagnostic accuracy of the orbital LCH

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