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European Journal of Case Reports in... 2023While primarily described in children, adult-onset Langerhans cell histiocytosis (LCH) has been reported, albeit infrequently. In the present scenario, we unveil a...
UNLABELLED
While primarily described in children, adult-onset Langerhans cell histiocytosis (LCH) has been reported, albeit infrequently. In the present scenario, we unveil a unique case of adult-onset LCH in an HIV-infected individual. After the diagnosis was made, the patient was successfully treated and demonstrated total disease remission. This case illustrates the diagnostic challenge that rare clinical entities such as LCH pose, especially in the context of an untreated HIV infection. Furthermore, the complexity of treating adult-onset Langerhans cell histiocytosis in an HIV-positive patient is highlighted, with emphasis given on a multidisciplinary approach.
LEARNING POINTS
Novelty: the case study provides knowledge on the uncommon occurrence of LCH in adults, especially within the setting of untreated HIV infection, underlining the significance of prompt detection and medical treatment.Diagnostic challenges: The scenario depicts the difficulty in diagnosing LCH in the presence of HIV, necessitating an array of diagnostic procedures.Multidisciplinary approach: This case's effective management emphasises the crucial role of a multidisciplinary approach when dealing with complex medical conditions.
PubMed: 38077705
DOI: 10.12890/2023_004168 -
Chest Aug 2022Lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) are cystic lung diseases in which a neoplastic cell is thought to be responsible for...
BACKGROUND
Lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) are cystic lung diseases in which a neoplastic cell is thought to be responsible for disease pathogenesis. The neoplastic LAM cell has mutations in the TSC genes, TSC1 or TSC2, whereas the neoplastic PLCH cell may have mutations in several genes (eg, BRAF, NRAS, MAP2K1). These mutations are not specific for PLCH and have been described in multiple cancers. TSC1 or TSC2 mutations and loss of heterozygosity (LOH) have also been described in cancers.
RESEARCH QUESTION
Is TSC2 LOH specific to LAM or is it also found in PLCH?
STUDY DESIGN AND METHODS
We recruited patients with LAM (n = 53) and healthy volunteers (n = 22) and compared the presence of cells with TSC2 LOH with patients with PLCH (n = 12). Blood and urine samples were collected for analysis. Fluorescence-activated cell sorting (FACS) was used to identify subpopulations of cells from blood and urine samples. We isolated CD45-CD235a-, CD45-CD235a+, and CD45+CD235a- cells from blood after density gradient separation. Cells were screened for TSC2 LOH at five microsatellites markers (ie, kg8, D16S3395, D16S3024, D16S521, D16S291). We obtained four cell subpopulations from urine (ie, CD44v6+CD9+, CD44v6+CD9-, CD44v6-CD9+, CD44v6-CD9-).
RESULTS
Using FACS, cells were isolated from blood and urine from patients with PLCH that showed TSC2 LOH. Healthy volunteers did not have cells with TSC2 LOH. As a control, cells isolated from blood and urine from patients with LAM gave results similar to those reported previously. These data show that TSC2 LOH is found in patients with cystic lung diseases with potential neoplastic characteristics, and in patients with cancer.
INTERPRETATION
The presence of TSC2 LOH in circulating cells is not specific for LAM. The data suggest that chromosomal abnormalities affecting the TSC2 gene are found in other diseases associated with cells having cancer-like neoplastic cells.
Topics: Histiocytosis, Langerhans-Cell; Humans; Loss of Heterozygosity; Lung Diseases; Lymphangioleiomyomatosis; Tuberous Sclerosis Complex 2 Protein; Tumor Suppressor Proteins
PubMed: 35231481
DOI: 10.1016/j.chest.2022.02.032 -
Radiology Case Reports May 2022Langerhans cell histiocytosis (LCH) refers to a group of diseases of unknown etiology, typically discovered in childhood, characterized by the accumulation of Langerhans...
Langerhans cell histiocytosis (LCH) refers to a group of diseases of unknown etiology, typically discovered in childhood, characterized by the accumulation of Langerhans cells (white blood cells with large cell nuclei that may contain cytoplasmic histiocytosis X bodies) involving one or more organ systems, including bones, lungs, pituitary gland, skin, lymph nodes, and liver. This disease is also known as histiocytosis X or eosinophilic granuloma. Pulmonary LCH is common (identified in 40% of LCH patients) and may be isolated to the lung or involve other organs. Although LCH is characterized by clonal cell proliferation, adult LCH is considered likely to represent the manifestation of an aberrant immune response to an unspecified antigenic stimulus rather than a manifestation of tumor proliferation. We report a very complicated clinical case of LCH, with multiple organ damage that received a variety of different diagnoses. An LCH diagnosis was confirmed based on postoperative spinal cord pathology results and immunohistochemistry examinations. This case report highlights the clinical, laboratory, and imaging signs observed in this case that should be noted to help doctors more quickly recognize, diagnose, and treat similar cases.
PubMed: 35251425
DOI: 10.1016/j.radcr.2022.02.024 -
Orphanet Journal of Rare Diseases Nov 2023Langerhans cell histiocytosis (LCH) is a rare highly heterogeneous histiocytosis, which can be divided into single system and multiple system disease according to site...
BACKGROUND
Langerhans cell histiocytosis (LCH) is a rare highly heterogeneous histiocytosis, which can be divided into single system and multiple system disease according to site of involvement. There is a paucity of studies examining unifocal LCH in adults in the molecular era.
RESULTS
We retrospectively analysed records from 70 patients with unifocal LCH. The median age at diagnosis was 36 years (18-69). The most common organ involved was the bone (70.0%), followed by pituitary gland (7.1%). Target gene sequencing of lesion tissues was performed on 32 of the 70 patients. MAPK/PI3K pathway alterations were observed in 78.1% of the patients; the most common mutations included BRAF (28.1%), MAP2K1 (18.8%) and PIK3CA (9.4%). After a median follow-up time of 39.4 months (0.7-211.8), 10 (14.3%) patients developed disease progression, of whom 4 had local recurrence, 2 progressed to single-system multifocal and 4 progressed to multiple system LCH. The 3-year progression-free survival (PFS) was 81.9%. Univariate analysis showed that age < 30 years at diagnosis was associated with worse 3-year PFS (52.2% vs. 97.0%, p = 0.005). The 3-year overall survival was 100%.
CONCLUSIONS
In our large cohort of adults with unifocal LCH, we found that prognosis of unifocal LCH in adults was very good, and age < 30 years at diagnosis was associated with increased relapse risk.
Topics: Humans; Adult; Adolescent; Young Adult; Middle Aged; Aged; Retrospective Studies; Phosphatidylinositol 3-Kinases; Histiocytosis, Langerhans-Cell; Disease Progression; Genomics
PubMed: 38037140
DOI: 10.1186/s13023-023-02989-8 -
Cureus Jun 2022Encountering a young child with an enlarging painless facial swelling often raises concerns in the treating physician about the possibility of a congenital lesion or an...
Encountering a young child with an enlarging painless facial swelling often raises concerns in the treating physician about the possibility of a congenital lesion or an unfavorable pediatric tumor. We discuss a case of a female child who presented with multiple craniofacial swellings, which turned out to be Langerhans cell histiocytosis (LCH). She was subsequently diagnosed with multisystem LCH (MS-LCH) with risk-organ involvement, which included the craniofacial bones, skin, hemopoietic system, and liver. We analyze the various presentations and systemic complications of this rare pediatric tumor, LCH, with an aim to address the diagnostic dilemma associated with this great masquerader.
PubMed: 35812621
DOI: 10.7759/cureus.25684 -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Mar 2022Pulmonary Langerhans cell histiocytosis (PLCH) is a clonal disease, characterized by proliferation of Langerhans cells that derived from bone marrow infiltrating the... (Review)
Review
OBJECTIVES
Pulmonary Langerhans cell histiocytosis (PLCH) is a clonal disease, characterized by proliferation of Langerhans cells that derived from bone marrow infiltrating the lungs and other organs. Due to the rarity of the disease, the current understanding of the disease is insufficient, often misdiagnosed or missed diagnosis. This study aims to raise clinicians' awareness for this disease via summarizing the clinical characteristics, imaging features, and treatment of PLCH.
METHODS
We retrospectively analyzed clinical and follow-up data of 15 hospitalized cases of PLCH from September 2012 to June 2021 in the Second Xiangya Hospital of Central South University.
RESULTS
The age of 15 patients (9 men and 6 women, with a sex ratio of 3 to 2) was 21-52 (median 33) years. Among them, 8 had a history of smoking and 5 suffered spontaneous pneumothorax during disease course. There were 3 patients with single system PLCH and 12 patients with multi-system PLCH, including 7 patients with pituitary involvement, 7 patients with lymph node involvement, 6 patients with bone involvement, 5 patients with liver involvement, 2 patients with skin involvement, 2 patients with thyroid involvement, and 1 patients with thymus involvement. The clinical manifestations were varied but non-specific. Respiratory symptoms mainly included dry cough, sputum expectoration, chest pain, etc. Constitutional symptoms included fever and weight loss. Patients with multi-system involvement experienced symptoms such as polyuria-polydipsia, bone pain, and skin rash. All patients were confirmed by pathology, including 6 by lung biopsy, 3 by bone biopsy, 2 by lymph node biopsy, and 4 by liver, skin, suprasternal fossa tumor, or pituitary stalk biopsy. The most common CT findings from this cohort of patients were nodules and/or cysts and nodular and cystic shadows were found in 7 patients. Three patients presented simple multiple cystic shadows, 3 patients presented multiple nodules, and 2 patients presented with single nodules and mass shadows. Pulmonary function tests were performed in 4 patients, ventilation dysfunction was showed in 2 patients at the first visit. Pulmonary diffusion function tests were performed in 4 patients and showed a decrease in 3 patients. Smoking cessation was recommended to PLCH patients with smoking history. Ten patients received chemotherapy while 2 patients received oral glucocorticoid therapy. Among the 11 patients with the long-term follow-up, 9 were in stable condition.
CONCLUSIONS
PLCH is a neoplastic disease closely related to smoking. The clinical manifestations and laboratory examination are not specific. Pneumothorax could be the first symptom which is very suggestive of the disease. Definitive diagnosis relies on histology. There is no unified treatment plan for PLCH, and individualized treatment should be carried out according to organ involvement. Early smoking cessation is essential. Chemotherapy is the main treatment for rapidly progressing PLCH involved multiple organs. All diagnosed patients can be considered for the detection of gene and relevant targeted therapies have been implemented recently.
Topics: Adult; Cysts; Female; Histiocytosis, Langerhans-Cell; Humans; Lung; Male; Retrospective Studies; Smoking; Smoking Cessation
PubMed: 35545326
DOI: 10.11817/j.issn.1672-7347.2022.210581 -
Journal of the National Comprehensive... Nov 2021Adult-onset histiocytoses (AOH), primarily Rosai-Dorfman disease (RDD), Erdheim-Chester Disease (ECD), and adult Langerhans cell histiocytosis (ALCH), are a group of... (Review)
Review
Adult-onset histiocytoses (AOH), primarily Rosai-Dorfman disease (RDD), Erdheim-Chester Disease (ECD), and adult Langerhans cell histiocytosis (ALCH), are a group of related histiocytic neoplastic disorders featuring multisystemic manifestations. The disorders are largely incurable, and are essentially chronic neoplastic diseases with a variable prognosis. Prompt diagnosis and treatment is important to prevent debilitating and even life-threatening complications. Survivorship issues abound in AOH, due to their multisystemic manifestations and the sometimes recalcitrant chronic inflammation, which can lead to other debilitating complications such as fatigue, weakness, and pain. Because these disorders are rare, few healthcare professionals are proficient in their management; therefore the aim of these guidelines is to offer guidance on how to manage patients, and how to create survivorship care plans through the efforts of an interdisciplinary team.
Topics: Adult; Erdheim-Chester Disease; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Humans; Neoplasms; Prognosis; Survivorship
PubMed: 34781266
DOI: 10.6004/jnccn.2021.7096 -
International Journal of Surgery Case... Aug 2022Langerhans cell histiocytosis (LCH) is a rare neoplastic hyperplasia with an unknown etiology. It is clinically rare for patients with solitary rib lesion and...
INTRODUCTION AND IMPORTANCE
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. In this article, we report a case of LCH in solitary involvement of rib and provide a review of the available literature.
CASE PRESENTATION
A 24-year-old female patient complained of right chest and back pain for 10 days. CT showed a fracture in the right 6th rib. Findings on X-ray, and CT were suggestive of homogeneous osteolytic lesion of the right 6th rib. The rib tumor was then resected and the surrounding muscles and soft tissues were accordingly resected.
CLINICAL DISCUSSION
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 one-year follow-up.
CONCLUSIONS
Most of the solitary tumorous lesions in rib in adults call for various differential diagnoses. Although single-site, single-system LCH of the rib is one of the rarest causes of bone tumor in adults, it can be treated successfully with surgical intervention. LCH should be considered in the diagnosis of an adult patient with a rib mass.
PubMed: 35939864
DOI: 10.1016/j.ijscr.2022.107432 -
Cureus Jul 2023An eight-year-old boy presented with a one-month history of left eyelid swelling. The patient was diagnosed with periorbital cellulitis at another clinic and was treated...
An eight-year-old boy presented with a one-month history of left eyelid swelling. The patient was diagnosed with periorbital cellulitis at another clinic and was treated with oral antibiotics. However, the swelling did not subside. On initial consultation, the patient had left upper eyelid swelling with erythema. His extraocular muscle motility was normal, and the results of blood tests were unremarkable. A computed tomographic scan demonstrated a mass in the superior orbit with destructive changes in the left frontal bone. Histopathological examinations revealed a dense infiltrate of histiocytic cells. Immunohistochemical staining of the tumors for CD1a and Langerin was positive. A pathological diagnosis of Langerhans cell histiocytosis was made. Since orbital Langerhans cell histiocytosis has a high risk for central nervous system involvement, chemotherapy was the treatment of choice for any residual lesion to prevent sequelae to the central nervous system. At the six-month follow-up, the lesion did not recur, and the patient did not experience any central nervous system sequela.
PubMed: 37663977
DOI: 10.7759/cureus.42773 -
Endocrine Journal Apr 2022Langerhans cell histiocytosis (LCH) is a multi-organ disorder that rarely involves the hypothalamic-pituitary region (HPR). HPR-LCH presents with severe progressive...
Langerhans cell histiocytosis (LCH) is a multi-organ disorder that rarely involves the hypothalamic-pituitary region (HPR). HPR-LCH presents with severe progressive pituitary dysfunction and its prognosis is poor. The definitive diagnosis of LCH is considerably difficult and complicated owing to the occurrence of several diseases with similar manifestations in the HPR and its location in the deepest portion of the anterior skull base, in close proximity to important normal structures, severely limiting the size of the biopsy specimen. Chemotherapy is the established treatment modality for LCH; hence, timely and accurate diagnosis of LCH is essential for early therapeutic intervention. We retrospectively reviewed clinical features and biopsy procedures in four patients with HPR-LCH (all female, 28-44 years old) from 2009 to 2020. Maximum diameter of supra-sellar lesions was 23-35 mm and 2 cases had skip lesions. All patients demonstrated central diabetes insipidus, hyper-prolactinemia, and severe anterior pituitary dysfunction. Two of the patients had progressive disease. Furthermore, four patients presented body weight gain, two visual disturbance, and two impaired consciousness. The duration from onset to diagnosis of LCH was 3 to 10 (average 7.25) years. In total, eight operations were performed until final diagnosis. The percentage of correct diagnosis by biopsy was 50% (4/8). Clinical features of HPR-LCH are very similar to those of other HPR diseases, and their symptoms are progressive and irreversible. Clinicians should consider repeated biopsy with a more aggressive approach if the lesion is refractory to steroid therapy, in order to ensure accurate diagnosis and appropriate treatment.
Topics: Adult; Female; Histiocytosis, Langerhans-Cell; Humans; Hypothalamic Diseases; Magnetic Resonance Imaging; Male; Pituitary Diseases; Pituitary Gland; Retrospective Studies
PubMed: 34776469
DOI: 10.1507/endocrj.EJ21-0341