scholarly journals Recurrent pulmonary infections as the first presentation of Letterer Siwe disease

2021 ◽  
Vol 2021 (7) ◽  
Author(s):  
Leen Jamel Doya ◽  
Ghazal Dib ◽  
Fouz Hassan
Keyword(s):  
Rare Disease ◽  
Langerhans Cell Histiocytosis ◽  
Poor Prognosis ◽  
Langerhans Cell ◽  
Diagnostic Workup ◽  
Unknown Etiology ◽  
Pulmonary Infections

ABSTRACT Langerhans cell histiocytosis (LCH) is a rare disease of unknown etiology that affects several organs. The fatal type of Langerhans cell histiocytosis is called Letterer Siwe disease (LSD) which is multisystem with a poor prognosis. Herein, we report a 20-month-old male who was admitted for recurrent pulmonary infections at the age of 10 months. Diagnostic workup revealed a Letterer-Siwe disease. The patient was treated with a good response.

scholarly journals Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Nahid Reisi ◽  
Pouran Raeissi ◽  
Touraj Harati Khalilabad ◽  
Alireza Moafi
Keyword(s):  
Systematic Review ◽  
Dendritic Cells ◽  
Rare Disease ◽  
Langerhans Cell Histiocytosis ◽  
Case Reports ◽  
Langerhans Cell ◽  
The Other ◽  
Bone Involvement ◽  
Intracranial Extension ◽  
Pathologic Fractures

Abstract Background Langerhans cell histiocytosis (LCH) is a rare disease that originates from the uncontrolled proliferation and accumulation of bone marrow-derived immature myeloid dendritic cells. Dendritic cells are a type of histiocyte that play an important role in the human immune system and are found in the bone, skin, stomach, eyes, intestines, and lungs. Objective This systematic review aimed to collect and report published case reports of rare bone disease caused by LCH to avoid misdiagnoses or delays in diagnosis. Methods We systematically searched Scopus, PubMed, Embase, and Web of Sciences from August 1, 2000 to December 31, 2019. Studies reporting cases of LCH with rare bone involvement were included. Results We identified 60 articles including 64 cases. Of the identified cases, 31 (48.4%) involved children, and 33 (51.6%) involved adults. Additionally, 46.9% (30 individuals) were from Asian countries. The mean age of the children was 7.6 ± 4.3 years and that of the adults was 36 ± 12 years. The findings indicated that unifocal bone involvements were the most prevalent form of the disease (68.7%), and, overall, the skull and chest wall were the most commonly affected bones in both adults and children. The spine and long bones were the second most commonly affected bones in children, and the spine and jaw were the second most commonly affected bones in adults. Pain and swelling were the most frequent presenting signs among the investigated cases, and loss of consciousness, myelopathy, nerve palsy, visual loss, torticollis and clicking sounds were rare signs. Osteolytic lesions were the most frequent radiologic feature (62.5%), and intracranial hemorrhage, fluid–fluid level, dura and intracranial extension and pathologic fractures were rare radiological features. Total excision, curettage and observation in the unifocal group of patients and systemic chemotherapy in the other groups (i.e., multifocal and multisystem) were the most frequent management approaches. The recovery rates of the unifocal and multifocal groups were 77.3% and 81.8%, respectively, while that of the multisystem group was 55.5%. The rates of recurrence and mortality in the multisystem group were 11% and were higher than those in the other groups. Conclusions LCH is a rare disease that can affect any organ in the human body. However, bone is the most commonly involved organ, and rare bone involvements may be the first or only symptom of the disease due to the rarity of such lesions; a lack of familiarity with them may result in misdiagnosis or delayed diagnosis.

scholarly journals Langerhans cell histiocytosis of the rib presenting with pathological fracture: a case report

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Tao Zuo ◽  
Ping Jiang ◽  
Junjie Yu ◽  
Ke Zhao ◽  
Yong Liu ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Pathological Fracture ◽  
Soft Tissues ◽  
Langerhans Cell ◽  
Rib Fracture ◽  
Unknown Etiology ◽  
Case Presentation ◽  
Left Chest ◽  
Rib Tumor

Abstract Introduction Langerhans cell histiocytosis (LCH) is a rare neoplastic hyperplasia with an unknown etiology. It is clinically rare for patients with solitary rib lesion and pathological fracture; moreover, its diagnosis and treatment are quite difficult. The purpose of this study is to present a case for the pathogenesis, clinical features, imaging, and treatment of this disease. Case presentation A 52-year-old female patient complained of left chest pain for one week. CT showed a fracture in the left 5th rib. The rib tumor was then resected and the surrounding muscles and soft tissues were accordingly resected. The patient was diagnosed with pathological rib fracture, and the patient was pathologically diagnosed with LCH. After surgery, no local recurrence or distant metastasis was reported during the two-year follow-up. Conclusions LCH should be treated by observation, chemotherapy, radiotherapy, or surgery, or using a combination of several methods. Moreover, primary tumor should be considered when rib fracture without trauma and tumor metastasis.

scholarly journals Langerhans-Cell Histiocytoses - Epidemiology, Classification, Clinical Features, Diagnosis, Complications, Treatment and Prognosis

2016 ◽  
Vol 9 (1) ◽  
pp. 3-16 ◽  
Author(s):  
Vera E. Papochieva ◽  
Dimitrinka S. Miteva ◽  
Penka I. Perenovska ◽  
Guergana Petrova
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Eosinophilic Granuloma ◽  
Langerhans Cell ◽  
Unknown Etiology ◽  
Bone Lesions ◽  
Multisystem Disease ◽  
The Past ◽  
System Disease ◽  
Young Smokers ◽  
Underlying Pathology

Summary Histiocytoses comprise a group of diverse diseases of unknown etiology with various clinical presentation and evolution. The underlying pathology is characterised by accumulation and infiltration of variable numbers of cells of the monocyte-macrophage line in the affected tissues and organs. Histiocytoses are divided into three major classes: Langerhans cell histiocytosis (LCH), non- Langerhans cell histiocytosis, and malignant histiocytic disorders. The term LCH (also known in the past as histiocytosis X) encompasses the following rare diseases: Eosinophilic Granuloma, Hand-Schuller-Christian disease, Letterer-Siwe disease, Hashimoto-Pritzker disease, in which accumulation of pathologic Langerhans cells (LCs) leads to tissue damage. LCs usually reside in the skin and ensure protection against infections by destroying foreign substances. LC accumulation is caused by antigen stimulation and inadequate immune response. Thus, clinical LCH manifestations range from isolated disease with mono- or multifocal bone lesions to disseminated multisystem disease. LCH is a rare disease, affecting mainly children and young smokers, aged 20-50 years. Lung involvement in LCH usually presents as a mono-system disease and is characterized by Langerhans cell granulomas (LCG) infiltrating and impairing the distal bronchioles. The definite diagnosis is based on lung biopsy of CAT selected LCG areas. So far, there is no an effective treatment, but the better understanding of the mechanisms involved in the pathogenesis of the disease would help in the development of effective therapeutic strategies in the future.

A case of fixation amnesia in Langerhans cell histiocytosis involving the central nervous system

2020 ◽  
Vol 12 (6) ◽  
pp. 117-123
Author(s):  
L. V. Lukina ◽  
V. A. Mikhailov ◽  
N. I. Ananyeva ◽  
G. E. Mazo ◽  
L. I. Sitnik ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Langerhans Cell Histiocytosis ◽  
Correct Diagnosis ◽  
Brain Lesion ◽  
Clinical Findings ◽  
Langerhans Cell ◽  
Unknown Etiology ◽  
Bone Lesions ◽  
The Central Nervous System

Langerhans cell histiocytosis (LCH) is a rare disease with hitherto unknown etiology and pathogenesis. It is extremely rare for clinicians to encounter histiocytic lesions of the central nervous system (CNS); the proportion of cases of which is only 1–4% of all polysystemic and multifocal bone lesions. The paper describes a clinical case of fixation amnesia in a female patient with focal brain lesions in LCH. It depicts the most characteristic clinical features and presents an algorithm for the diagnosis of histiocytic brain lesion. The results of the experimental psychological examination of the patient are considered in detail and the clinical presentations of fixation amnesia are described. There are neuroimaging data showing the lesions in the hypothalamic-pituitary region and temporal bone, which involve the auditory structures. The clinical findings have led to the conclusion that both the clinical and neuroimaging patterns of histiocytic lesions in the CNS are non-specific, which complicates the diagnostic search in LCH. For correct diagnosis and timely treatment, it is necessary to perform a biopsy of the pathological focus, followed by histological and immunohistochemical examination of the material.

Treatment of recurrent Langerhans cell histiocytosis of the vulva with lenalidomide.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e16555-e16555 ◽  
Author(s):  
Ibrahim Fuad Ibrahim ◽  
Harris V. K. Naina
Keyword(s):  
Rare Disease ◽  
Langerhans Cell Histiocytosis ◽  
Symptom Control ◽  
Female Genital Tract ◽  
Disease Recurrence ◽  
Langerhans Cell ◽  
Effective Treatment Option ◽  
Distant Disease ◽  
First Line Therapy

e16555 Background: Langerhans cell histiocytosis (LCH) of the female genital tract is an extremely rare disease. We report a 14 year follow up of a patient with LCH successfully treated with lenalidomide in the relapsed setting. Methods: N/A. Results: A 43 year old Ethiopian woman initially presented to another institution with a nodular lesion on her left vulva with biopsy consistent with LCH. Metastatic workup at the time did not reveal evidence of distant disease. The patient was initially treated with radiotherapy to the vulva and 2 years later she was diagnosed with recurrent disease in the vulva and underwent a wide local excision. Six months afterwards she developed a lesion on her right labium majus consistent with disease recurrence. She was treated with radiotherapy again and underwent a wide radical vulvar excision. She recurred only 3 months later and was started on salvage therapy with thalidomide, 3 years after the initial diagnosis. Within 2 months of starting thalidomide therapy, the patient experienced resolution of vulvar lesions and symptoms. She remained symptom free for 8 years while on thalidomide but then presented to our institution with a new central vulvar lesion after being off therapy for 4 months. Vulvar biopsy confirmed the presence of LCH. She was subsequently restarted on thalidomide and achieved symptom control for an additional 18 months before developing worsening pain and neuropathy associated with therapy. Imaging revealed no evidence of metastatic disease. We then started lenalidomide therapy at dose of 10 mg daily for 21 days in a 28 day cycle and subsequently increased the dose to 25 mg daily continuously. She achieved marked improvement in vulvar symptoms within a month of initiation of lenalidomide. She has tolerated therapy well with no neuropathy or cytopenias. Conclusions: Primary vulvar LCH is a rare disease with no standard therapies. Thalidomide has been described in the literature as an effective treatment option. We describe the use of lenalidomide as an alternative and well tolerated therapy in the relapsed setting. Further investigation is required to determine whether lenalidomide is a viable first line therapy for this rare disease.

scholarly journals Bone Scintigraphy in the Examining of Treatment-Naive Pediatric Patients With Langerhans Cell Histiocytosis

2020 ◽  
Vol 3 (1) ◽  
pp. 21-37
Author(s):  
A. S. Krylov ◽  
A. D. Ryzhkov ◽  
S. M. Kaspshik ◽  
M. A. Krylova ◽  
E. E. Stanyakina ◽  
...  
Keyword(s):  
Bone Scintigraphy ◽  
Langerhans Cell Histiocytosis ◽  
Pediatric Patients ◽  
Bone Destruction ◽  
Langerhans Cell ◽  
Whole Body ◽  
Unknown Etiology ◽  
X Ray ◽  
Treatment Naïve ◽  
Proven Case

Introduction: Histiocytosis is a heterogeneous group of rare diseases of unknown etiology. LCH is characterized by an abnormal proliferation of histiocytes (activated dendric cells and macrophages). Langerhans cell histiocytosis (LCH) is the most common form of histiocytosis, it is a potentially fatal diseases. Early detection of LCH plays an important role in its prognosis and outcome. However, the role of advanced methods of nuclear medicine in diagnosis of LCH is still to be researched. We have long-term experience in observing pediatric patients with LCH. Taking into the account the difficulty of diagnostic task for bone scintigraphy in identifying lytic bone destruction, we stated the following objective of the study.Purpose: Retrospective and prospective analysis of bone scintigraphy examinations of treatment-naive pediatric patients with LCH and calculate the diagnostic efficacy of bone scintigraphy. Material and methods: We analyzed 60 examinations of treatment-naive pediatric patients with proven case of LCH (2014-2019). The scanning was performed using whole body mode, 3 hours after intravenous injection of bone-seeking radiopharmaceutical 99mTc-MDP on Symbia E, T2 (Siemens, Germany). The median age was 5.6 years.Results: During examination we visualized 88 lesions with pathological level of accumulation of radiopharmaceutical in 60 patients. 84 with high level of accumulation (>120 %); 3 with slightly increased level of accumulation (100–120 %) and 1 with lower than normal level of accumulation (<100 %). The median level of accumulation of radiopharmaceutical was 268 %. Max level of accumulation was 1422 % (patient with subtotal involvement of femoral bone). Min — 60 % (patient with lytic destruction in orbital bone). During X-Ray we found out 97 pathological focuses of bone lytic destruction. In 3 patients with polyostotic form we found extra focuses on scintigraphy, which were confirmed with following examination and X-Ray. 8 lesions were not found on scintigraphy in 8 patients.Сonclusions: We evaluated diagnostic accuracy of bone scintigraphy with 99mTc-MDP in treatment-naïve pediatric patients with proven case of LCH. Sensitivity, specificity, NPV and PPV — 91.6, 50.0, 11.1, 98.6 %, respectively.

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 Unusual Location for Langerhans Cell Histiocytosis: Basisphenoid extended to Parapharyngeal Space

2016 ◽  
Vol 8 (1) ◽  
pp. 38-40
Author(s):  
Asif Salimov ◽  
Ahmet E Suslu ◽  
Serdar Ozer ◽  
Taner Yilmaz ◽  
Hatice IY Bajin
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Parapharyngeal Space ◽  
Langerhans Cell ◽  
Unknown Etiology ◽  
Endoscopic Endonasal ◽  
Unusual Location ◽  
First Case ◽  
Rare Location ◽  
Magnetic Resonance Imaging Mri ◽  
The Right

ABSTRACT Langerhans cell histiocytosis (LCH) is a rare disease with unknown etiology involving abnormal proliferation of histiocytes. We hereby describe an LCH that has a rare location. A 4-year-old female patient was referred to our clinic with headache lasting for 2 months. Magnetic resonance imaging (MRI) showed an expansile mass on the level of basisphenoid extended to the right parapharyngeal space with dense contrast enhancement. The patient underwent endoscopic endonasal transsphenoidal surgery for biopsy of the mass. Immunohistochemical and pathological studies confirmed LCH diagnosis. This is the first case report of LCH extended to the parapharyngeal space in the current literature. How to cite this article Salimov A, Suslu AE, Ozer S, Yilmaz T, Bajin HIY. Unusual Location for Langerhans Cell Histiocytosis: Basisphenoid extended to Parapharyngeal Space. Int J Otorhinolaryngol Clin 2016;8(1):38-40.

scholarly journals Investigation of Immune Microenvironment in Children with Langerhans Cell Histiocytosis

2020 ◽  
Author(s):  
Fuyong Zhang ◽  
Weihong Wang ◽  
Yunfang Zhen ◽  
Jin Dai ◽  
Lunqing Zhu ◽  
...  
Keyword(s):  
T Lymphocytes ◽  
Rare Disease ◽  
Treatment Option ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Characteristics ◽  
Langerhans Cell ◽  
Immune Microenvironment ◽  
Tissue Samples ◽  
Cd8 T Lymphocytes ◽  
New Treatment

Abstract Background: Langerhans cell histiocytosis (LCH) is a rare disease that mainly occur in children. The aim of this investigation is to explore the immune microenvironment of LCH and feasibility of immunotherapy for children with LCH. Methods: Tissue samples were collected from 15 children with LCH and their clinical characteristics were recorded. The expressions of PD-1 ligand 1(PD-L1) and the presence of CD8 T lymphocytes were assessed by immunohistochemistry (IHC). Results: Of the total 15 patients, 8 of them were PD-L1 positive and it accounted for 53.33% and 9 of them were CD8 T lymphocytes positive and it accounted for 60%. There were 8 out of the 15 patients that were both PD-L1 positive and CD8 positive and they accounted for 53.33%.Conclusions: Our results showed that the expression of PD-L1 and presence of CD8 T lymphocytes occurred in the microenvironment of LCH. The findings indicated a possible new treatment option for LCH in children.

scholarly journals PULMONARY AND INTRACRANIAL RADIOGRAPHIC PRESENTATIONS OF LANGERHANS CELL HISTIOCYTOSIS

2019 ◽  
Vol 5 (1) ◽  
pp. 21-25
Author(s):  
D. Mohammed ◽  
S. B. Patel
Keyword(s):  
Case Report ◽  
Rare Disease ◽  
Langerhans Cell Histiocytosis ◽  
Open Lung Biopsy ◽  
Langerhans Cell ◽  
X Rays ◽  
Osteolytic Lesions ◽  
Systemic Manifestations ◽  
Systemic Symptoms ◽  
Radiographic Presentation

Background. Langerhans Cell Histiocytosis is a rare disease that affects 1 to 2 adults per million worldwide and often consists of systemic manifestations including pulmonary, intracranial and osteolytic lesions and endocrinologic abnormalities such as Diabetes Insipidus. Objective. The objective of this case report was to expand the medical literature of this rare disease. Methods. A case report of a 51-year-old female patient presenting with systemic symptoms as a result of Langerhans Cell Histiocytosis is presented. Results. A 51-year-old female presented with epistaxis, fatigue, polydipsia, polyuria, headaches and dyspnea. After initial x-rays showed multiple lung and liver nodules and the patient suffered subsequently from a unilateral pneumothorax, an open lung biopsy was recommended. On a pathological basis, the patient was diagnosed with Langerhans Cell Histiocytosis. This report focuses on the radiological presentations of the manifestations of Langerhans Cell Histiocytosis, particularly the presentations in the lung and intracranial regions. Conclusions. Langerhans Cell Histiocytosis is an incredibly rare disease that presents systemically. Recognizing and differentiating radiographic presentation of these patients is important to determine the need for confirmation by biopsy and early chemotherapeutic intervention.

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