Owens, md langerhans cell histiocytosis is a rare disease with a variable clinical presentation, and its prognosis and treatment depend on the extent and severity of disease. In langerhans cell histiocytosis, certain white blood cells langerhans cells grow out of control. Spleen is a rare organ of presentation with only 75 cases reported till date. An ongoing debate over the grouping of lch was finally settled in favor of neoplasm after the discovery of the braf v600e mutation in 2010. Langerhans cell histiocytosis is most likely to damage bones, but it can affect many body systems. In a healthy person, langerhans langerhanz cells help fight infection. Ho f c y t o logy i a l st r n olg journal of cytology. A person of any age can get histiocytosis, but it is most common in children 1 to 3 years old. Pulmonary langerhans cell histiocytosis plch is a rare disorder of unknown cause characterised by the infiltration of the lungs and other organs by the bone marrow derived langerhans cells, which carry mutations of braf gene andor nras, kras and map2k1 genes. Langerhans cell histiocytosis lch is a rare disorder in which the body makes too many dendritic cells. Current understanding and differential diagnosis hirokazu nakamine,1 mitsunori yamakawa, 2 tadashi yoshino, 3 takaya fukumoto,4 yasunori enomoto,5 and itaru matsumura6 langerhans cell lc histiocytosis lch and lc sarcoma lcs are proliferative processes consisting of cells. Langerhans cell histiocytosis etiology bmj best practice.
Langerhans cell histiocytosis lch is a rare disease marked by proliferation of langerhanstype cells that share immunophenotypic and ultrastructural similarities with antigenpresenting langerhans cells of mucosal sites and skin. Two newborns with a solitary lesion on the groin and shoulder respectively of langerhans cell histiocytosis lch showing spontaneous resolution are reported. Family history of cancer or having a parent who was exposed to certain chemicals may increase the risk of lch. Langerhans cell histiocytosis genetic and rare diseases. Radiotherapy in langerhans cell histiocytosis a rare. Cutaneous langerhans cell histiocytosis, the american journal of medicine, 10. The newer term is preferred as its more descriptive of its cellular background, and removes the ambiguity of the connotation. Langerhans cell histiocytosis radiology reference article. People with lch produce too many langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. Most individuals with adultonset langerhans cell histiocytosis are current or past smokers. Langerhans cell histiocytosis lch is a rare histiocytic disorder most commonly characterized by single or multiple osteolytic bone lesions or skin rashes demonstrating infiltration with histiocytes with beanshaped nuclei on biopsy with or without histiocytic infiltration of extraskeletal tissues most notably the skin, lungs, lymph nodes.
Idiopathic thrombocytopenic purpura in childhood, langerhans. Langerhans cell histiocytosis involving the gastrointestinal tract amir behdad, md. Get detailed treatment information for lch in this summary for clinicians. Several important studies published from 2010 to 2016 have immensely clarified the biology of lch.
Langerhans cell histiocytosis lch and the nonlch, erdheim chester disease, are rare histiocytic neoplasms with distinctive clinical and immunophenotypic features, but with several overlapping molecular features. These cells play a role in the bodys immune system. Feb 01, 2016 langerhans cell histiocytosis lch, which is a rare granulomatous pediatric disease of unknown etiology, is characterized by the idiopathic proliferation and accumulation of abnormal and clonal langerhans cells or their marrow precursors, resulting in localized, solitary or multiple destructive lesions. Lch is classified as a cancer and sometimes requires treatment with chemotherapy. Pulmonary langerhans cell histiocytosis plch may be seen as part of widespread involvement in patients with disseminated lch or more frequently as a distinct entity in young adult smokers. Langerhans cell histiocytosis has a highly variable clinical presentation, ranging from a single lesion to potentially fatal disseminated disease. Langerhans cell histiocytosis histiocytosis x is a rare disorder. They are found in the skin, lymph nodes, spleen, bone marrow and lungs. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Langerhans cell histiocytosis seattle childrens hospital. Any organ or system of the human body can be affected, but those more frequently involved are the skeleton 80% of cases, the skin 33%, and the pituitary 25%. Langerhans cell histiocytosis causes, symptoms, diagnosis.
Langerhans cell histiocytosis lch is a rare cancer involving clonal proliferation of langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes. In langerhans cell histiocytosis formerly known as histiocytosis x, langerhans cells multiply abnormally. It can affect children of any age, and is more common in boys than in girls. Langerhans cell histiocytosis, often called lch, is a disorder where the body produces too many langerhans cells. Its clinical presentation is variable and ranges from isolated skin or bone disease to a lifethreatening multisystem condition. Pdf drug therapy for the treatment of langerhans cell. Langerhans cell histiocytosis also called histiocytosis x is a rare disorder that primarily affects children. Pdf bone metabolism in langerhans cell histiocytosis. Orbital inflammatory diseases and their differential. Langerhans cell histiocytosis lch is a rare multisystem disease with a wide and heterogeneous clinical spectrum and variable extent of involvement. Langerhans cells are white blood cells in the immune system that normally play an important role in protecting the body against viruses, bacteria and other invaders. This antibody labels cells expressing s100 and is a useful aid for the classification of s100positive neoplasms, such as malignant melanoma 1, 2, langerhans histiocytosis 3, chondroblastoma 4, and schwannoma 5.
This case shows the importance of an early detection of this rare disease in order to prevent further spreading. Langerhans cell histiocytosis lch is an inflammatory myeloid neoplasia caused by alterations mutations of several genes in the mapkinase pathway. Sep 11, 2017 langerhans cell histiocytosis lch is a disorder that primarily affects children, but is also found in adults of all ages. For each disorder, the etiology, clinical manifestations. How i treat langerhans cell histiocytosis blood american. Treatment depends on the site and extent of disease. In the past, this disorder was thought to be a type of cancer or a condition similar to cancer. Clinical presentation includes osteolysis, ulcerations of skin and soft tissues but also involvement of the cns is described.
Get my notes in pdf files that are downloadable at s. Multisystem radiology 2008 more than just langerhans cell histiocytosis. The signs and symptoms of lch depend on where it is in the body. The radiographic skeletal survey is the cornerstone of the initial imaging evaluation for langerhans cell histiocytosis because it allows the detection of bone lesions, which occur in most children affected by the disease 2,4,5,10,14. Langerhans cell histiocytosis and langerhans cell sarcoma. Pulmonary langerhans cell histiocytosis radiology reference. Pulmonary langerhans cell histiocytosis plch is a diffuse lung disease that usually affects young adult smokers. Lch is an abnormal proliferation and dissemination of clonal langerhans cells in which they accumulate, along with other inflammatory cells, and form tissue granulomas in different organs. Langerhans cell histiocytosis was formerly referred to as histiocytosis x, until it was renamed in 1987. Individualized treatment approaches for langerhans cell. Langerhans cell histiocytosis introduction inflammatory pseudotumor is a benign disorder mainly occurs in respiratory system, liver, central nervous system and gastrointestinal tract. Langerhans cell histiocytosis lch is a heterogeneous disease, characterized by accumulation of dendritic cells with features similar to epidermal langerhans cells in various organs. Langerhans cell histiocytosis lch represents a rare benign disorder, previously designated as histiocytosis x, type ii histiocytosis or langerhans cell granulomatosis.
One unusual and interesting differential diagnosis is follicular dendritic cell sarcoma fdcs which exhibits large cells but with less. Langerhans cell histiocytosis blood american society. Catalase deficiency an overview sciencedirect topics. Langerhans cell histiocytosis lch treatment may include observation alone, surgery, radiation therapy, or oral, topical, and intravenous medication.
Dec 16, 2012 langerhans cell histiocytosis lch is a very rare form of disorder that involves clonal proliferation of the langerhans cells, the abnormal cells that are derived from the bone marrow which are capable of moving from the skin to the lymph nodes. Langerhans cells are a type of white blood cell that normally help the body fight infection. Langerhans cell histiocytosis is a disorder in which excess immune system cells called langerhans cells build up in the body. Histiocytosis association is a global nonprofit organization dedicated to funding research leading to better treatments and a cure, raising awareness about histiocytic disorders, as well as providing educational and emotional support. Lch is part of a group of syndromes called histiocytoses, which are characterized. Noah brown, md langerhans cell histiocytosis lch comprises a wide spectrum of clinical disorders that have in common a proliferation of langerhans type cells with characteristic morphologic, immunophenotypic, and ultrastructural. It has some characteristics of cancer but, unlike almost every other cancer, it may spontaneously resolve in some patients while being lifethreatening in others. The chemokine ccl20mip3alpha is responsible for t cell recruitment in lesions. Frequently children affected are between years old and boys are more often affected. Langerhans cell histiocytosis lch treatment depends on where it is found in the body and whether the lch is low or high risk. Characterized by the clonal proliferation of pathogenic langerhans cells in single or multiple organs. Langerhans cell histiocytosis histiocytosis x harvard health.
Langerhans cell histiocytosis lch is a histiocytic disorder with a large spectrum of clinical manifestations and with possible involvement of a variety of organs. Because treatment concepts are not well defined the german cooperative group on. Patient age ranges from 5 to 15 years in about 90% of the cases, and males are slightly predominant. Oral manifestation of langerhans cell histiocytosis. Langerhans cell histiocytosis lch is one of the histiocytosis disorders, as defined by the histiocyte society. The cells build up in the body, sometimes damaging organs or forming tumors. Langerhans cell histiocytosis is often diagnosed in childhood, usually between ages 2 and 3, but can appear at any age. Dendritic cells are a form of histiocyte, or white blood cell. The lesions of langerhans cell histiocytosis have a wide spectrum of histologic changes, but a constant feature is a sinusoidal proliferation of langerhans cells in the appropriate cellular background fig.
Treatment can include chemotherapy, surgery, radiation therapy, photodynamic therapy, immunotherapy, and targeted therapy. But in histiocytosis histeeohsytoesis, the cells grow so quickly that they build up. Oct 25, 2012 langerhans cell histiocytosis lch is a heterogeneous disease, characterized by accumulation of dendritic cells with features similar to epidermal langerhans cells in various organs. More children than ever are surviving childhood cancer. It is reported to be between 26 54 cases per million children in the general population. Management of adult patients with langerhans cell histiocytosis. Langerhans cell histiocytosis genetics home reference nih.
Extraosseous langerhans cell histiocytosis in children. Even if an initial diagnosis in the oral cavity is rare, dentists. Langerhans cell histiocytosis is a rare clonal disease characterized by the proliferation of cd1apositive immature dendritic cells. Lch has a relatively higher incidence in children under the age of 15 years 5. Langerhans cell histiocytosis nord national organization.
Canine cutaneous histiocytoma originates from langerhans cells lcs indicated by expression of cd1a, cd11ccd18, and ecadherin. Jul 02, 2015 langerhans cell histiocytosis lch describes a spectrum of clinical presentations ranging from a single bone lesion or trivial skin rash to an explosive disseminated disease. Cd1apositive langerhans cells produce inflammatory chemokines that are responsible for their own recruitment and retention. Sep 30, 2019 langerhans cell histiocytosis lch and lymphangioleiomyomatosis lam medicosis perfectionalis. Langerhans cell histiocytosis, cranial diabetes insipidus, idiopathic thrombocytopenic, purpura, hypothalamicpituitary axis introduction langerhans cell histiocytosis lch is a rare disease, more so in adults, characterised by proliferation of large mononuclear cells. They can be found in the skin, lungs, stomach, bone, eyes and intestines. Langerhans cell histiocytosis lch is a rare systemic disorder characterized by the ranging organ involvement. Langerhans cell histiocytosis lch is a rare disease of not welldefined aetiology that involves immune cell activation and frequently affects the skeleton lacking a targeted therapeutic approach. Langerhans cell histiocytosis an overview sciencedirect. Jul 31, 2014 lchiv, international collaborative treatment protocol for children and adolescents with langerhans cell histiocytosis the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Langerhans cell histiocytosis lch is a disorder that primarily affects children, but is also found in adults of all ages. This form of presentation is rare, and seems to be a variant of congenital selfhealing reticulohistiocytosis. Langerhans cell histiocytosis lch lch is an unusual condition.
The pathogenic cells are defined by constitutive activation of the mapk signaling pathway. Oral and cutaneous manifestations of langerhans cell. Multiple organs and systems may be involved by the disease. Langerhans cell histiocytosis treatment pdqpatient. When histiocytomas occur as multiple lesions in skin with optional metastasis to lymph nodes and internal organs, the disease resembles cutaneous langerhans cell histiocytosis of humans. A langerhans cell is a type of white blood cell that normally helps the body fight off infection. Aberrant chemokine receptor expression and chemokine production by langerhans cells underlies the pathogenesis of langerhans cell histiocytosis. Langerhans cell histiocytosis infiltration into pancreas and kidney.
Langerhans cell histiocytosis lch is a rare histiocytic disorder of unknown etiopathogenesis. One of these rare disorders which resembles some types of cancer is called langerhans cell histiocytosis, or lch. It occurs when there are very high levels of a type of immune cell called a langerhans cell. It most commonly appears in toddlers and very young children, but you can have. Lchiv, international collaborative treatment protocol for. Histiocyte cells are a form of white blood cells that help the immune system destroy foreign materials and fight infection. Langerhans cell histiocytosis is an abnormal proliferation of tissue macrophages called langerhans cells in one or more organs, including bone, skin, lymph nodes, lung, liver, spleen, and bone marrow. Langerhans cell histiocytosis was previously known as histiocytosis x. Analyses of plch tissues have identified activating mutations of specific mitogenactivated protein kinases. Langerhans cell histiocytosis lch is a group of rare disorders histologically characterized by the proliferation of langerhans cells. Langerhans cell histiocytosis lch is a rare disease, which occurs mainly in children. Medical management of langerhans cell histiocytosis from. It is caused by the abnormal proliferation of langerhans cells. Differential classification is aided by the results from a.
Marzia caproni, daniela massi and emiliano antiga, at the root. A spectrum of diseases formerly known as histiocytosis x and now called langerhanscell histiocytosis is characterized by erk pathway activation including braf v600e mutations and diverse clinical manifestations involving bone, skin, lung, and pituitary. Langerhanscell histiocytosis lch is a group of rare disorders histologically characterized by the proliferation of langerhans cells. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. Langerhans cell histiocytosis lch is the most common of the histiocytic disorders and occurs when the body accumulates too many immature langerhans cells, a subset of the larger family of cells known as histiocytes. This disorder is characterized by an abnormal increase in certain immune cells called histiocyte cells.
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