Radiologic findings that aid in the reduction of misdiagnoses of Langerhans cell histiocytosis of the bone: a retrospective study

Abstract Background This study aimed to identify the characteristic radiological signs for the diagnosis of Langerhans cell histiocytosis (LCH) of the bone. Methods We retrospectively studied 82 cases of LCH with bone lesions confirmed by pathology. Clinical and radiological features of the patients were analyzed. Results A total of 64 and 18 patients had single and multiple bone lesions, respectively. With regard to LCH with single bone lesions, 37.5% (24/64) of lesions were located in the skull and presented as bone destruction with or without soft tissue mass. The correct diagnosis rate of these lesions was 60.0% (9/15) in children and adolescents, but was only 22.2% (2/9) in adults. A total of 26.5% (17/64) of the solitary lesions were found in the spine. Of these, 88.2% (15/17) were located in the vertebral body and appeared to have different degrees of collapse, and 66.7% (10/15) of these lesions were correctly diagnosed. Of the unifocal lesions, 21.8% (14/64) were located in other flat and irregular bones and manifested as osteolysis. Only 21.4% (3/14) of these cases were correctly diagnosed. In total, 14.1% (9/64) of the isolated bone LCH lesions were located in the long bones. Of these, 77.8% (7/9) were located in the diaphysis and presented as central bone destruction with or without fusiform periosteal reaction and extensive peripheral edema, of which 42.9% (3/7) were correctly diagnosed before surgery or biopsy. With regard to LCH with multiple bony destructive lesions, 71.4% (10/14) of cases in children and adolescents were correctly diagnosed; however, all four cases among adults were misdiagnosed. Conclusion In all age groups, isolated diaphyseal destruction of the long bone with fusiform periosteal reaction and extensive peripheral edema, vertebra plana of the spine, and bevelled edge of skull defects accompanied by soft tissue masses strongly suggest LCH diagnosis. Moreover, the multiple bone osteolytic destruction in children and adolescents strongly suggests LCH diagnosis. Familiarity with these typical radiological signs of LCH is necessary to decrease misdiagnoses.

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

Neurology neuropsychiatry Psychosomatics ◽

10.14412/2074-2711-2020-6-117-123 ◽

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.

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Pulmonary Langerhans Cell Histiocytosis with Lytic Bone Involvement in an Adult Smoker: Regression following Smoking Cessation

Case Reports in Hematology ◽

10.1155/2015/201536 ◽

2015 ◽

Vol 2015 ◽

pp. 1-5 ◽

Cited By ~ 1

Author(s):

B. Routy ◽

J. Hoang ◽

J. Gruber

Keyword(s):

Smoking Cessation ◽

Cigarette Smoking ◽

Langerhans Cell Histiocytosis ◽

Case Series ◽

Bone Destruction ◽

Bone Diseases ◽

Langerhans Cell ◽

Braf V600e ◽

Bone Lesions ◽

Pulmonary Langerhans Cell Histiocytosis

Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm characterized by the proliferation and dissemination of histiocytes. These in turn may cause symptoms ranging from isolated, infiltrative lesions to severe multisystem disease. Pulmonary Langerhans cell histiocytosis (PLCH) presents as a localized polyclonal proliferation of Langerhans cells in the lungs causing bilateral cysts and fibrosis. In adults, this rare condition is considered a reactive process associated with cigarette smoking. Recently, clonal proliferation has been reported with the presence of BRAF V600E oncogenic mutation in a subset of PLCH patients. Spontaneous resolution was described; however, based on case series, smoking cessation remains the most effective way to achieve complete remission and prevent long term complications related to tobacco. Herein, we report the case of an adult woman with biopsy-proven PLCH presenting with thoracic (T8) vertebral bone destruction. Both the lung and the bone diseases regressed following smoking cessation, representing a rare case of synchronous disseminated PCLH with bone localization. This observation underscores the contribution of cigarette smoking as a systemic trigger of both pulmonary and extrapulmonary bone lesions. A review of similar cases in the literature is also presented.

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Initial Symptoms of Langerhans Cell Histiocytosis: A Case Series

Global Pediatric Health ◽

10.1177/2333794x19857377 ◽

2019 ◽

Vol 6 ◽

pp. 2333794X1985737 ◽

Cited By ~ 1

Author(s):

Yukari Atsumi ◽

Yuya Saito ◽

Hiroshi Hataya ◽

Yuki Yuza

Keyword(s):

Langerhans Cell Histiocytosis ◽

Medical Center ◽

Bone Lesion ◽

Case Series ◽

Langerhans Cell ◽

Long Bone ◽

Bone Lesions ◽

Initial Symptom ◽

Initial Symptoms ◽

Skull Lesion

Langerhans cell histiocytosis (LCH) is a rare childhood hematopoietic disease, and hence, there are few reports summarizing the course leading to the diagnosis. We described the initial symptoms and the clinical course of LCH. We carried out a retrospective review of charts from a single medical center, and 21 patients with the diagnosis of LCH were enrolled. The initial symptoms of 16 cases were caused by bone lesions; of these cases, there were 8 instances of soft tissue swelling as the initial symptom (38%) and 8 instances of bone pain without swelling (38%). Among the cases of bone lesion, 4 of 6 cases of skull lesion were painless while all vertebral body lesions and long bone lesions were accompanied by pain. LCH bone lesions caused various symptoms depending on the site of the lesion and this makes the diagnosis difficult. A detailed physical examination and imaging studies are recommended for early diagnosis.

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Paediatric Langerhans Cell Histiocytosis Disease: Long-Term Sequelae in the Hypothalamic Endocrine System

Hormone Research in Paediatrics ◽

10.1159/000517040 ◽

2021 ◽

pp. 1-9

Author(s):

Elisa Vaiani ◽

Guido Felizzia ◽

Fabiana Lubieniecki ◽

Jorge Braier ◽

Alicia Belgorosky

Keyword(s):

Anterior Pituitary ◽

Langerhans Cell Histiocytosis ◽

Endocrine System ◽

Langerhans Cell ◽

Hormone Deficiency ◽

Bone Lesions ◽

Pituitary Hormone ◽

Multisystem Disease ◽

Anterior Pituitary Hormone

Langerhans cell histiocytosis (LCH) is a disorder of the mononuclear phagocyte system that can affect almost any organ and system. The most common central nervous system (CNS) manifestation in LCH is the infiltration of the hypothalamic-pituitary region leading to destruction and neurodegeneration of CNS tissue. The latter causes the most frequent endocrinological manifestation, that is, central diabetes insipidus (CDI), and less often anterior pituitary hormone deficiency (APD). The reported incidence of CDI is estimated between 11.5 and 24% and is considered a risk factor for neurodegenerative disease and APD. Three risk factors for development of CDI are recognized in the majority of the studies: (1) multisystem disease, (2) the occurrence of reactivations or active disease for a prolonged period, and (3) the presence of craniofacial bone lesions. Since CDI may occur as the first manifestation of LCH, differential diagnosis of malignant diseases like germ cell tumours must be made. APD is almost always associated with CDI and can appear several years after the diagnosis of CDI. Growth hormone is the most commonly affected anterior pituitary hormone. Despite significant advances in the knowledge of LCH in recent years, little progress has been made in preventing long-term sequelae such as those affecting the hypothalamic-pituitary system.

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Multifocal soft tissue Langerhans’ cell histiocytosis treated with PET-CT based conformal radiotherapy

Japanese Journal of Radiology ◽

10.1007/s11604-015-0466-6 ◽

2015 ◽

Vol 33 (9) ◽

pp. 603-606

Author(s):

Cem Onal ◽

Ezgi Oymak ◽

Mehmet Reyhan ◽

Tuba Canpolat ◽

Ozgur Ozyilkan

Keyword(s):

Soft Tissue ◽

Langerhans Cell Histiocytosis ◽

Conformal Radiotherapy ◽

Langerhans Cell ◽

Pet Ct

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Langerhans Cell Histiocytosis with Isolated Central Diabetes Insipidus, Low Grade Fever and Sellar Erosion

Trends in Pediatrics ◽

10.5222/tp.2021.86580 ◽

2021 ◽

Author(s):

İclal Okur ◽

Hasan Ari ◽

Semra Çetinkaya ◽

Betül Emine Derinkuyu ◽

Gizem Çağlar ◽

...

Keyword(s):

Diabetes Insipidus ◽

Langerhans Cell Histiocytosis ◽

Bone Structure ◽

Sella Turcica ◽

Langerhans Cell ◽

Central Diabetes Insipidus ◽

Bone Lesions ◽

Warning Sign ◽

Low Grade ◽

First Case

Langerhans cell histiocytosis (LCH) is a rare disease of the monocyte-macrophage system. Although it is known that bone involvement is seen very frequently in cases with LCH, our case is the first case with a lytic-destructive lesion in the bone structure forming sella turcica. A 4-year-old, 5-month-old male patient who applied to our outpatient clinic was diagnosed with Langerhans cell histiocytosis in further examination after the diagnosis of central diabetes insipidus (CDI) was made. On cranial magnetic resonance imaging (MRI), widespread lytic-destructive bone lesions were observed in the bone structure forming the sella (sphenoid bone), sellar destruction not previously described in the literature. Sellar erosion has not been reported before in cases diagnosed with LCH in the literature. The presence of low-grade fever in a patient presenting with isolated CDI is a warning sign for the diagnosis of LCH.

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Pulmonary Langerhans Cell Histiocytosis and Other Pulmonary Histiocytic Diseases: A Review

Archives of Pathology & Laboratory Medicine ◽

10.5858/2008-132-1171-plchao ◽

2008 ◽

Vol 132 (7) ◽

pp. 1171-1181 ◽

Cited By ~ 5

Author(s):

Timothy Craig Allen

Keyword(s):

Literature Review ◽

Langerhans Cell Histiocytosis ◽

Correct Diagnosis ◽

Pulmonary Involvement ◽

Langerhans Cell ◽

Data Sources ◽

Primary Material ◽

Pulmonary Langerhans Cell Histiocytosis

Abstract Context.—Pulmonary Langerhans cell histiocytosis is the most common and best known pulmonary histocytic lesion; however, the realm of pulmonary histiocytic lesions also includes an assortment of uncommon diseases that may exhibit pulmonary involvement. Objective.—To review pulmonary Langerhans cell histiocytosis and other pulmonary histiocytoses to better ensure correct diagnosis and optimal assessment of prognosis and treatment. Data Sources.—Literature review and primary material from the author's institution. Conclusions.—This review discusses the most common pulmonary histocytosis, pulmonary Langerhans cell histiocytosis, and also reviews the uncommon pulmonary histiocytic lesions, which are distinct from pulmonary Langerhans cell histiocytosis.

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

Journal of Biomedical and Clinical Research ◽

10.1515/jbcr-2016-0001 ◽

2016 ◽

Vol 9 (1) ◽

pp. 3-16 ◽

Cited By ~ 1

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.

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