Langerhans Cell Histocytosis Research Articles

Langerhans Cell Histocytosis in Cervical Spine: A Rare Case Report

Langerhans cell histocytosis (LCH) in spine is a benign disorder that rare in adults and mainly affects children. We report the case of a 16 year-male presented to us with severe pain in nape region and upper limb radiculopathy along with upper limbs weakness for 4 months. He had history of fall injury 6month ago. Radiological investigation revealed to have a solitary osteolytic lesion with pathological fracture at C6 vertebral body. MRI showed hyper intense lesion in T2 sagittal images and hyper intense in T1 sagittal images in C6 vertebral body. The patient underwent surgical management in the form of excision of lesion, anterior C6 Corpectomy with C5-C6, C6-C7 discetomy and reconstruction with titanium cage and plating. Patient had immediate relief of nape region pain and radiculopathy. The accurate diagnosis of LCH was founded on histological examination.

Langerhans cell histocytosis presenting as chondrosarcoma of the clivus at intraoperative consultation in a young patient

Langerhans cell histiocytosis is a rare disorder which mimics various clinical and radiological presentations including infection or malignancy; and symptoms can be mild or life threatening.1 It is a clonal proliferation of myeloid dendritic cells in various sites of the body, caused by alterations in the MAPKinase pathway and BRAF V600 E. The literature reveals common sites being skin and bones, lymph nodes, brain, lung, liver, spleen.2,3 Although skull is a common site for LCH, because of its rarity, this diagnosis was not considered clinically in this case, when it presented to us at the time of intraoperative consultation of a chondrosarcoma.

Percutaneous CT-guided corticosteroid injection for the treatment of osseous Langerhans cell histocytosis: a three institution retrospective analysis.

The aim of this study is to evaluate the safety and effectiveness of CT-guided corticosteroid injection for the treatment of osseous Langerhans cell histiocytosis (LCH) in a multi-institutional study. This IRB-approved study included patients from three institutions. We retrospectively reviewed clinical, procedural, and imaging data for corticosteroid injections performed to treat osseous LCH. Location of the lesion, lesion maximum dimension and volume, corticosteroid type and dose, and time interval between injection and change in lesion size/volume and symptoms were recorded. Generalized estimating equations (accounting for multiple lesions per subject) were used to evaluate the association betweenpredictors (dose, maximum lesion dimension, and lesion volume) and outcomes (time to partial and complete radiographic resolution, and time to pain control). This analysis was adjusted by anatomic site. Forty corticosteroid injections were performed in 36 patients (20 (56%) females, and 16 (44%) males, ages 12 ± 11 (2-57) years). Mean lesion maximum dimension was 3.2 ± 1.7cm, and volume was 10 ± 17cm3. Imaging and clinical follow-up were available for 22/40 (55%) and 34/40 (85%) of injections, respectively. All lesions responded to corticosteroid injection. Times to partial and complete imaging resolution were 13 ± 9 and 32 ± 13weeks, respectively, and time to pain resolution was 22 ± 14weeks. There were no complications. CT-guided corticosteroid injection is a safe and effective treatment for LCH. Pain resolution was achieved in all patients and imaging did not show progressive disease in any of the patients.

Lung carcinoma with diffuse cystic lesions misdiagnosed as pulmonary langerhans cell histocytosis: a case report

BackgroundCystic airspace is an uncommon imaging manifestation involved in non-small lung cancer (NSCLC). Diffuse cystic lesion is even rarer as pulmonary manifestation of NSCLC. In the present study, we reported a rare case of NSCLC associated with progressive diffusion of cystic lesions misdiagnosed as Pulmonary langerhans cell histocytosis (PLCH), finally diagnosed by transbronchial cryobiopsy (TBCB).Case presentationA 52-year-old woman was admitted to our hospital due to cough and dyspnea. High-resolution computed tomography (HRCT) presented diffuse cystic shadow mostly, concomitantly with nodular densities in bilateral lungs. A lung biopsy revealed poorly differentiated adenocarcinoma with vascular tumor emboli. The epidermal growth factor receptor (EGFR) mutation on exon 18 (G719X, G719) was detected by mutation test. The patient received treatment of tyrosine kinase inhibitor (afatinib).ConclusionsDiffuse cystic lesion can be a rare manifestation of lung cancer. It was important to improve the recognition of diffuse cystic lung diseases to avoid misdiagnosis.

Erdheim chester disease: A trio of intriguing cases

Histiocytoses are a group of heterogeneous diseases that comprise Langerhans cell histocytosis (LCH) and non-LCH. Erdheim Chester disease (ECD) is a non-LCH, clonal systemic proliferation of histiocytes resulting in lesions that can manifest in virtually any tissue within the body. Diagnosis is based on the combined clinical features, histology and characteristic radiological findings. We present three cases. These cases include a 63-year-old woman investigated for bony abnormalities discovered on staging investigations following a diagnosis of breast cancer, a 71-year-old male presenting with diminishing renal function and left ureteric obstruction and a 67-year-old man with fatal multi-systemic ECD involvement, including retroperitoneal fibrosis, dilated cardiomyopathy and bone pain that was diagnosed late in its course. BRAFV600E mutational analysis was performed and a mutation was detected in each of the three cases. Recent research into such cases has described an association between LCH and ECD and it is suggested that BRAFV600E has an important role in the emergence of both diseases. Like LCH, the majority of ECD patients harbour acquired activating mutations in the MAPK/ERK pathway genes with BRAFV600E and NRAS mutations the most prevalent. These findings open the gateway to the possibility of targeted therapeutic treatment for those with significant clinical disease.

A Case of Langerhans Cell Histocytosis Masquerading as a Colon Polyp

Abstract Langerhans cell histocytosis, otherwise known as eosinophilic granuloma, is a rare neoplastic process composed of Langerhans cells and eosinophils. Most cases present during childhood, with the bones and skin being the most common organs involved. Other organs are occasionally involved, with some systemic cases involving the gastrointestinal tract. Presentations of Langerhans cell histocytosis range from single-organ involvement to systemic involvement. Fewer than five cases of isolated Langerhans cell histocytosis in the gastrointestinal system in adults have been reported. We present a case of Langerhans cell histocytosis incidentally discovered during routine colonoscopy in a 67-year-old otherwise healthy woman. Initial colonoscopy performed 7 years prior demonstrated a sessile serrated adenoma, fragments of tubular adenomas, and hyperplastic polyps. Repeat colonoscopy 3 years later demonstrated a sessile serrated adenoma and hyperplastic polyp. Upon repeat colonoscopy 4 years later, the patient had nine subcentimeter polyps. One of the ascending colon polyp fragments demonstrated a well-circumscribed, submucosal nodule of granular pink histocytes with folded to clefted and reniform nuclei. Numerous eosinophils were present in the background. These findings were consistent with Langerhans cell histocytosis. The remaining polyps were a tubular adenoma and hyperplastic polyps. A CT chest/abdomen/pelvis did not demonstrate any evidence of systemic disease. One year postdiagnosis, the patient had not had recurrence of symptoms. Unifocal Langerhans cell histocytosis rarely presents in the gastrointestinal tract of an adult and is believed to have a good prognosis with limited recurrence. The patient is being closely followed for development of systemic disease.

SIMPLE CLUES TO DIAGNOSE A RARE DISEASE OF PULMONARY LANGERHANS CELL HISTOCYTOSIS

SESSION TITLE: Medical Student/Resident Tobacco Cessation and Prevention SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: 10/09/2018 01:15 PM - 02:15 PM INTRODUCTION: Langerhans cell histocytosis (LCH) commonly occurs in bone, dermis, lymph nodes, liver, spleen, and lungs. Pulmonary LCH (PLCH) is a rare disease occurring in 10% of LCH population and is seen in 3-5% of lung biopsies. (1) CASE PRESENTATION: A young female presented with 3 months history of persistent productive cough with minimal yellow to green color phlegm. She had symptoms of allergic sinusitis in past. No history of asthma. History of (Cystic fibrosis) CF gene carrier. Social history: current 5-pack year smoking. Family history was positive for lung cancer in grandmother, CF in sister. Physical Examination was normal.CTA Chest: innumerable thin walled cysts predominantly in upper lobes and mediastinal lymphadenopathy.Labs: VEG-F D: 58 (Normal), Alpha-1 antitrypsin: Normal.PFT: Normal.VATS guided open biopsy: revealed incidental respiratory bronchiolitis and cystic lesions with central fibrosis and mixed infiltrate of lymphoid aggregate, eosinophils, plasma cells and histocytes characteristic of late or fibrotic stage of Langerhans cell histocytosis. DISCUSSION: PLCH occurs in 20-40 years age group and most commonly associated with smoking. Patients with PCLH present with symptoms of cough, dyspnea and pleuritic pain with spontaneous pneumothorax. The cells express histocyte marker CD1 A-reactive Langerhans cells and contain Birbeck granules. The finding of interstitial fibrosis with cysts or nodules in upper lobes in a young smoker is characteristic of PLCH. (2) CONCLUSIONS: Patients with PLCH are more prone for pneumothorax and pulmonary hypertension. (3) Smoking cessation is main focus in management. Immunosuppressive therapies are of limited value. Reference #1: Canadian Respiratory Journal. 2010 May-Jun; 17(3): e55–e62 Reference #2: European Respiratory Journal. 2006 Jun;27(6):1272-85 Reference #3: American Journal of Respiratory Critical Care Med. 2000;161(1):216 DISCLOSURES: No relevant relationships by Shafia Beg, source=Web Response No relevant relationships by Shweta Kambali, source=Web Response

Spectrum of MDP Bone Scan in Paediatric Patients - Experience at NINMAS

Objective: To assess the clinical indications and spectrum of MDP bone scan findings in paediatric patients referred to the National Institute of Nuclear Medicine and Allied Sciences (NINMAS).Materials and Methods: Paediatric patients, age ranged from 2-18 years referred to NINMAS from January 2014 to November 2015 for bone scintigraphy were included in this study. All patients had 99mTc MDP bone scan for various clinical indications. The spectrum of clinical indications and bone scan findings were recorded and analyzed.Results: Total 2323 bone scans with 99mTc MDP were done in NINMAS in the above mentioned period. Among them 91 (3.917%) cases were in paediatric age group. Of which 82 (90.11%) patients with known malignancy were referred for radionuclide skeletal survey. The most common clinical indications were osteosarcoma 30 (32.96%) cases and Ewing’s sarcoma 25 (27.47%) cases followed by five neuroblastoma (5.49%), four (4.39%) rhabdomyosarcoma, three (3.29%) Langerhans cell histocytosis and rest others. Bone scan was positive in 58 (63.7%) cases and normal in 33 (36.3%) cases. Out of 58 cases 38 had features of primary bony lesion, 10 cases had multiple metastases, four cases had primary bone tumour of Ewing’s sarcoma as well as metastases.Conclusion: Bone scan is a popular imaging modality for skeletal survey of paediatric patients in malignancy, both primary and metastatic bone diseases. Bone scanning in paediatric patients contributes a major role in detecting the cause and localizing the pathology of bone. High quality imaging, interpreted by physicians familiar with paediatric diseases, correlation with clinical records and other imaging are mandatory to maximize the benefit.Bangladesh J. Nuclear Med. 19(1): 28-31, January 2016

Altano-axial subluxation with torticollis secondary to Langerhans cell histocytosis

Abstract Langerhans Cell Histiocytosis is a rare disease featuring aberrant proliferation of dendritic cells that can infiltrate the bony skeleton. The authors report a case of six-year-old female presenting with torticollis. She was found to have extensive lytic LCH lesions in the cranio-cervical junction, causing atlanto-axial rotatory subluxation. Decision was made for a non-surgical approach to treat the patient. She was placed in a Halo brace, and given concomitant chemotherapy. Post-treatment imaging demonstrated near-complete reconstitution of the skeleton affected by LCH. This case highlights the feasibility of non-surgical treatment in selected LCH patients at high-risk of spinal instability.

Magnetic Resonance Imaging Features of Solitary Hypothalamitis.

The study aimed to characterize magnetic resonance imaging (MRI) findings of solitary hypothalamitis and evaluate their clinical value in diagnosis. Magnetic resonance imaging scans, including T1-weighted imaging (T1WI), T2-weighted imaging (T2WI), and contrast-enhanced T1-weighted sequences, of 8 biopsy-proven hypothalamitis lesions were retrospectively analyzed along with MRI features including size, shape, signal intensity, enhancement pattern, correlation with adjacent tissues, and changes in infundibular stalk and sella turcica. Of 8 patients, 5 were diagnosed with lymphoplasmacytic proliferative inflammation, 2 with Langerhans cell histocytosis, and 1 with Rosai-Dorfman disease. Solitary hypothalamitis predominantly demonstrated mild hypointensity/isointensity in T1WI and mild hyperintensity in T2-weighted imaging. In contrast-enhanced T1WI, all lesions showed heterogeneous but primarily peripheral enhancement patterns. Seven cases showed the polygon sign. In T1WI, the normal high signal intensity of neurohypophysis was absent from all patients, with no infundibular stalk thickening. Seven patients presented with optic chiasma edema, and 5 with edema-like changes along the optic tract (OTE), but most showed no visual impairment (n = 7). Magnetic resonance imaging, particularly postcontrast MRI, is the optimal modality for assessment of hypothalamic lesions. Peripheral enhancement with polygon sign and optic tract or chiasm edema without visual impairment are highly suggestive of hypothalamitis.

Ultrasound-Guided Core-Needle Biopsy in the Diagnosis of Langerhans Cell Histocytosis with Thyroid Involvement

Ultrasound-Guided Core-Needle Biopsy in the Diagnosis of Langerhans Cell Histocytosis with Thyroid Involvement

Imaging of Langerhans Cell Histocytosis in an Adult

Imaging of Langerhans Cell Histocytosis in an Adult

Langerhans cell histiocytosis and Erdheim-Chester disease, both with cutaneous presentations, and papillary thyroid carcinoma all harboring the BRAF(V600E) mutation.

Langerhans cell histocytosis (LCH) and Erdheim-Chester disease are two rare histiocytic disorders. Their occurrence in the same patient is more infrequent, but has been described. We report a case of a 38-year-old woman who presented with a diagnosis of single system cutaneous LCH. Subsequently, she developed multiple papules on her extremities consistent with a non-LCH xanthogranuloma type lesion. BRAF(V600E) mutation immunostain, VE1 was positive in the skin lesion, which was confirmed by molecular polymerase chain reaction (PCR) studies, initiating a complete systemic workup for Erdheim-Chester disease. Systemic involvement was confirmed with bilateral sclerotic bone lesions and retroperitoneal and pelvic fibrosing disease. She was also found to have a BRAF(V600E) mutation positive papillary thyroid carcinoma. New suspicious cutaneous lesions presenting in patients with a history of LCH need to be biopsied. A BRAF(V600E) mutation in a non-LCH histiocytic lesion with a xanthogranuloma phenotype (CD163/CD68/CD14/fascin/Factor 13a) should prompt an Erdheim-Chester disease workup. This is a unique case of a woman with BRAF(V600E) mutation positive Erdheim-Chester disease and cutaneous LCH, while also being, to our knowledge, the first reported case in the English literature of it occurring in a patient with a BRAF(V600E) mutation positive papillary thyroid carcinoma.

Langerhans cell histocytosis: A case report of CT guided FNAB and immunocytochemistry

Langerhans cell histocytosis: A case report of CT guided FNAB and immunocytochemistry

Unusual Findings of Langerhans Cell Histocytosis in a Young Asymptomatic Patient: Case Report

Cyst is described on high-resolution computed tomography (HRCT) as focal round area of parenchymal hyperlucency with a well-defined interface with normal lung. A relatively small subset of lung diseases should be suspected when cystic pattern is seen on HRCT. In particular, the differential diagnosis of this pattern relies upon features such as: cranio-caudal distribution, cystic shape, and coexisting pulmonary or extra-pulmonary findings. Pulmonary Langerhans Cell Histocytosis (PLCH) is a smoke-related disease associated with cystic pattern. PLCH is characterized by infiltration of Langerhans cells in pulmonary interstitium with varying pathologic findings and depend on disease stage. The findings usually consist of a heterogeneous combination of lung nodules and cysts with upper lobes predominance. Notably, the HRCT pattern of PLCH is often striking and usually suggests confident diagnosis. Nevertheless, cases with atypical features can be seen. This case report describes the ambiguous imaging findings of a biopsy-proven PLCH.

Treatment Outcome of Langerhans Cell Histocytosis

Treatment Outcome of Langerhans Cell Histocytosis

Solitary Langerhans cell histocytosis of skull and spine in pediatric and adult patients

Langerhans cell histiocytosis (LCH) is a rare neoplasm and has heterogeneous clinical presentation and behavior. We analyzed solitary lytic lesions of the skull and spine in pediatric and adult patients. Between 2001 and 2011, 42 patients underwent surgery for LCH. Skull and/or spine involvement were evident in 21 (63.6%) of the 33 pediatric patients and 8 (88.9%) of the 9 adults. The 21 pediatric patients showed the unifocal monosystemic lesions in 10, multifocal monosystemic in 4, and multisystemic in 7. The eight adults comprised seven unifocal lesions and one multifocal monosystemic lesion. Of these cases, we analyzed the clinical courses of solitary LCH of skull and spine in 10 pediatric patients and 7 adults. The median age was 10.1 years (range: 1.1-14.1) in pediatric patients and 34.6 years (range: 26.1-52.0) in adults. The median follow-up was 3.1 years (range: 0.6-9.5). Total excision was done in 15 patients and biopsy in 2. Postoperative adjuvant chemotherapy was done in four pediatric patients and one adult, and comprised mass with dural adhesion (N = 2), skull base lesion (N = 1), atlas mass (N = 1), and vertebral lesion with soft tissue extension (N = 1). During follow-up, recurrence occurred in one pediatric patient who had a skull LCH with a dural adhesion. The patient experienced central diabetes insipidus and scapular pain due to pituitary stalk and scapula involvement 1.3 and 2.4 years later, respectively. Even if the solitary lesions of skull and spine show a favorable clinical course, some patients could show aggressive behavior.

Adult Disseminated Cutaneous Langerhans Cell Histocytosis with nail involvement in a Sudanese patient: A case report and review

Disseminated cutaneous langerhans cell histocytosis (LCH), are group ofrare histiocytic syndromes and idiopathic disorders characterized by theproliferation of specialized bone marrow–derived Langerhans cells (LCs)and mature eosinophils. We report a case of langerhans cell histocytosis withlimited skin and nail involvement occurred in a 26 years old male patient. Thedescribe case is an undiagnosed and relapsing case of skin and nail limited LCH, presented with erythematous greasy scales in the scalp and discrete, yellow brownish, scaly papules with areas of purpura mainly in face and trunk for 3 years duration, and then remains stable over time. The case is diagnosed and confirmed histopathologically, considered to be the first disseminated langerhans cell histocytosis in an adult to be reported in Sudan.

Langerhans Cell Histiocytosis (Letterer-Siwe disease ) - Report of a case

Langerhans cell histiocytosis is a rare disorder that occurs when there aretoo many of type of white blood cell called a Langerhans cell. We describe a3-months infant girl who developed wide spread skin lesions since she was 4days of age. . The diagnosis of Langerhans cell histiocytosis was confirmed byhistopathology. We report this case as a first Langerhans cell histocytosis to be reported in an infant.

Langerhans cell histocytosis in adult:one case report

患者男性,40岁,多饮、多尿1年余,双眼突出2月余.患者1年前出现多饮、多尿,同时伴头皮和胸部皮肤瘙痒、外耳道流脓、口腔反复溃疡、肛周有分泌物等症状,行肛周活检,诊断为肛周湿疹,后行头部MRI显示垂体柄增粗,双侧球后占位,诊断为尿崩症。