Histiocytosis X: Characteristics, behavior, and treatments as illustrated in a case series

Kasper, Ekkehard M.; Aguirre-Padilla, David H; Alter, Raanan Y.; Anderson, Matthew P.

doi:10.4103/2152-7806.80122

Cited by 20 publications

(30 citation statements)

References 19 publications

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“…By contrast, numerous genetic abnormalities, including the loss of heterozygosity, damage to the chromosomes and damage to genes (such as BRAF mutation), have been detected in LCH, which supports the possible clonal-expansive nature of the disease (22). These two pathways are currently under investigation with the aim to identify possible targets for the molecular therapy of LCH (10,14,15,(19)(20)(21)(23)(24)(25)(26)(27). One of the most exciting findings that may have therapeutical potential is the presence of the BRAF V600E mutation in LCH.…”

Section: Discussionmentioning

confidence: 99%

“…The gold standard for the diagnosis of the disease requires the presence of Birbeck granules on electron microscopy examination (13); however, in certain cases, immunohistochemistry can play a fundamental role in establishing a diagnosis. For example, a diagnosis can be established with the use of CD1a, S100 and/or CD45 immunostaining on histopathological specimens (14). Previously, a highly specific and sensitive monoclonal antibody against CD207 (langerin) has become commercially available.…”

Section: Discussionmentioning

confidence: 99%

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Langerhans cell histiocytosis with multisystem involvement in an infant: A case report

Sun

et al. 2015

Experimental and Therapeutic Medicine

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Abstract. Langerhans cell histiocytosis (LCH) is a proliferative disease of histiocyte-like cells, with a wide range of clinical presentations that vary from a solitary lesion to more severe multifocal or disseminated lesions. The disease can affect any age group; however, the peak incidence rate is in infants aged between 1 and 3 years-old. Diagnosis of LCH should be based on the synthetical analysis of clinical presentations, in addition to features of imaging and histopathology. Although certain cases regress spontaneously, other patients require systemic chemotherapy together with the administration of steroids. The present study reports the case of an infant with LDH with multisystem involvement, including that of the bone, skin, orbit, spleen and lungs. The patient received chemotherapy and obtained rapid improvement in the involved systems. A total of 2.5 years after completion of the therapy, the patient still remains in follow-up and no evidence of active disease has been noted.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Langerhans cell histiocytosis with multisystem involvement in an infant: A case report

Sun

et al. 2015

Experimental and Therapeutic Medicine

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“…LCH is characterized by the abnormal proliferation of bone marrow-derived Langerhans cells and may be divided into three types: Eosinophilic granuloma, Hand-Schuller-Christian disease and Lettere-Siwe disease (5,6). Histopathological examination is crucial for the diagnosis of LCH, and immunoreactivity for S-100 and CD1a, as well as the presence of Birbeck granules on electron microscopy examination, provide helpful information (7-9), as does the presence of CD45, CD56-positive cells (10,11).…”

Section: Discussionmentioning

confidence: 99%

“…Although the etiology of LCH has not been fully elucidated, the gold standard for the diagnosis of LCH is the presence of Birbeck granules, and positivity for CD1a, S-100 and/or CD45 on pathological examination (1,2). LCH may occur at any age, although it is more common in children, and has various clinical manifestations, depending on the type and number of systems or organs involved throughout the body (3).…”

Section: Introductionmentioning

confidence: 99%

Bone Langerhans cell histiocytosis with pulmonary involvement in an adult non-smoker: A case report and brief review of the literature

Shen

Feng

2016

Molecular and Clinical Oncology

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Abstract. Langerhans cell histiocytosis (LCH) is a rare disease of unknown cause, which encompasses a set of disorders of multiple organs with various clinical presentations that share the common characteristic of sizeable Langerhans cell infiltration. The clinical spectrum of LCH ranges from solitary bone lesions to involvement of other organs. Lung involvement in LCH may be part of a multisystem disease, which almost exclusively occurs in adult smokers, while it is overlooked or misdiagnosed in the majority of non-smokers. High-resolution computed tomography (HRCT) of the chest is crucial for diagnosis; however, the treatment and prognosis of this disease have not been clearly determined. We herein present the case of a non-smoking adult patient who presented with lower limb pain and was diagnosed via biopsy with LCH with multisystem involvement, including the bone and lungs. Lytic lesions in the corpus of the sacroiliac joint, sacrum, acetabulum and femoral head by a soft tissue mass were observed on diagnostic CT. In addition, chest HRCT revealed multiple cysts in the bilateral lungs, predominantly in the upper lobes. The final diagnosis of LCH was confirmed by histopathological examination and immunohistochemical staining for CD1a and S-100. Corticosteroid treatment alleviated lower limb pain and improved the patient's quality of life; thus, corticosteroids may be considered as a potential treatment option for patients with LCH. IntroductionLangerhans cell histiocytosis (LCH) is a rare disease of unknown etiology characterized by mixed cellular infiltration. Although the etiology of LCH has not been fully elucidated, the gold standard for the diagnosis of LCH is the presence of Birbeck granules, and positivity for CD1a, S-100 and/or CD45 on pathological examination (1,2). LCH may occur at any age, although it is more common in children, and has various clinical manifestations, depending on the type and number of systems or organs involved throughout the body (3).Specific acute symptoms may include local pain, weight loss, fatigue, fever, skin rash and neurological changes, while the bone and lung are the most commonly involved organs (4). It has been reported that the proportion of LCH with lung involvement in adults is higher compared with that in children (4). Furthermore, the disease is self-limited in the majority of pediatric patients, which is not the case in adults. A variety of factors have been implicated in the prognosis of LCH, such as patient age and extent of the disease. Several therapeutic approaches may be considered, including surgery, radiotherapy and chemotherapy; however, there is currently no standard treatment for LCH patients with multisystem involvement (MS-LCH). Case reportA 38-year-old male patient with a 2-year history of left leg pain, involving numbness extending from the left thigh to the knee, was referred to Nanjing Chest Hospital, Medical School of Southeast University. The pain and numbness in the left thigh were aggravated by exertion, such as walking or running, and they ...

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“…However, in certain cases, immunohistochemistry can be fundamental in estab lishing a diagnosis. For example, a diagnosis can be established with the use of the cell surface or cytoplasmic expression of CD1a, S100 and/or CD45 immunostaining on histopathological specimens (17).…”

Section: Discussionmentioning

confidence: 99%

Langerhans' cell histiocytosis of the temporal bone: A case report

Yang

2017

Experimental and Therapeutic Medicine

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Abstract. Langerhansmporal histiocytosis (LCH) refers to a group of diseases that are characterized by the primary pathogenesis of an abnormal polyclonal proliferation of Langerhans cells that affect different structures of the human body, including the temporal bone. Thus far, the etiology of LCH remains unclear. Diagnosis of LCH is based on a synthetic analysis of the clinical presen tations, as well as on features of imaging and histopathology. The clinical features, diagnosis, treatment and prognosis of LCH remain obscure, and temporal LCH is often confused with ear inflammatory lesions and malignant tumors. There are several therapeutic modalities for temporal bone LCH that include surgery, chemotherapy, radiotherapy and steroidal injections. The present study reports the case of an infant presenting a 1-month history of worsening left facial paralysis and a slowly enlarging post auricular mass followed by a 1-month history of postauricular swelling in the left ear. Computed tomography demonstrated a large mass of organized tissue. Moreover, the diagnosis of LCH was confirmed by histopathological and immunohistochemical examinations. The patient also suffered from multiple organ failure, including the liver, kidney, lymphatic system, skin, hematopoietic system and lungs. Following surgical intervention with mastoidotympanectomy, the parents of the patient refused further chemotherapy, and the patient succumbed to the disease ~6 months later.

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Histiocytosis X: Characteristics, behavior, and treatments as illustrated in a case series

Cited by 20 publications

References 19 publications

Langerhans cell histiocytosis with multisystem involvement in an infant: A case report

Langerhans cell histiocytosis with multisystem involvement in an infant: A case report

Bone Langerhans cell histiocytosis with pulmonary involvement in an adult non-smoker: A case report and brief review of the literature

Langerhans' cell histiocytosis of the temporal bone: A case report

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