The most common of these is langerhans cell histiocytosis lch, which affects only a few hundred patients every year in the united states. Langerhans cell histiocytosis lch, previously called histiocytosis x, refers to a spectrum of disease characterized by idiopathic proliferation of histiocytes producing focal or systemic manifestations. 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. Lch may present as a single bone lesion, skin rash, or as invasive disseminated disease and occurs typically in the pediatric and adolescent population, affecting both males and females. Langerhans cell histiocytosis genetics home reference nih. Langerhans cell lc histiocytosis lch and lc sarcoma lcs are.
Langerhans cell histiocytosis lch is a rare histiocytic disorder most commonly characterized by single or multiple osteolytic bone lesions demonstrating infiltration with histiocytes having beanshaped nuclei on biopsy. Langerhans cell histiocytosis lch may clinically manifest in a variety of ways due to its ability to involve nearly every organ system. During childhood, langerhans cell histiocytosis peaks between ages 1 and 3. A rare case of solitary brain langerhans cell histiocytosis. At the same time, as more patients have been followed longterm, the risk for permanent consequences has become more obvious. Langerhans cell histiocytosis lch is manifested in a variety of ways, the most common being the eosinophilic granuloma, a localized, often solitary bone lesion that occurs predominantly in the. Langerhans cell histiocytosis skeletal manifestations dr yuranga weerakkody and dr gagandeep singh et al. The skeleton is the most commonly involved organ system in langerhans cell histiocytosis lch and is by far the most common location for singlelesion lch, often referred to as eosinophilic granuloma eg the terms are used.
Langerhans cells may be difficult to find in such lesions. Langerhans cell histiocytosis histiocytosis x is a rare disorder. Systemic disease can involve organs such as bone marrow, liver, central nervous system. Langerhans cell histiocytosis histiocytosis x guide. Although it can strike at any age, it is most common in children and young adults, with about 70% of cases occurring before age 17. Langerhans cell histiocytosis lch is a disorder of myeloid neoplasia of dendritic cells that affects 1 in 200,000 children langerhans cells in single or multiple organs. Eosinophilic granulomalangerhans cell histiocytosis. 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, liver, spleen, bone marrow, brain. Langerhans cell histiocytosis lch has historically evolved in its classification from a primary immune dysregulatory disorder to what current evidence supports as a dendritic cell neoplasm with an immuneinflammatory component. It broadly fits into the category of histiocytoses. Composed of langerhans cells uniform, bland nuclei pale chromatin, thin nuclear membrane, inconspicuous nucleoli. About histiocytosis danafarber cancer institute boston, ma. Permanent consequences of lch more recent advances in research and treatment of histiocytic disorders have provided a high survival rate for patients with this disease.
Lch can cause damage to skin, bone and other organs. Radiological imaging showed bony lesions of the skull and a softtissue. Apart from histiocytosis x, there are other usually cutaneous disorders, which originate in temporary forms of dendritic cells which for example express the cd1a antigen, but do not contain birbeck granules. Langerhans cells are bone marrowderived antigenpresenting cells dendritic cells characterized by a unique cytoplasmic organelle, the birbeck granule, and the expression of cd1a and class ii major histocompatibility complex molecules. Optimal therapy for adults with langerhans cell histiocytosis. Langerhans cell histiocytosis is a type of cancer that can damage tissue or cause lesions to form in one or more places in the body.
The disease can affect virtually every organ, including skin, bones, lymph nodes, bone marrow, liver, spleen, lungs, gastrointestinal tract, thymus, central nervous system, and hormone glands. Handschullerchristian disease is the chronic disseminated variety, characterized by multifocal bone lesions and extraskeletal involvement of the. Langerhans cell histiocytosis lch is an inflammatory myeloid neoplasia caused by alterations mutations of several genes in the mapkinase pathway. It most commonly appears in toddlers and very young children, but you can. The skeleton is the most common location for langerhans cell histiocytosis. Medical management of langerhans cell histiocytosis from. Langerin, a novel ctype lectin specific to langerhans cells, is an endocytic. Unifocal bone disease has a good prognosis with relapse rate of 10% and a. Prognosis is usually good self limiting histiocytosis of the head in children, undetermined cell histiocytosis and others. Langerhans cell histiocytosis lch is an idiopathic condition. Several important studies published from 2010 to 2016 have immensely clarified the biology of lch. Skin biopsy diagnosis of langerhans cell neoplasms intechopen. Langerhans cell histiocytosis and langerhans cell sarcoma. Either solitary bone involvement, multiple bone involvement variable skin involvement or multiple organ.
Langerhans cell histiocytosis radiology reference article. Langerhans cell histiocytosis definition of langerhans. Langerhans cell histiocytosis genetic and rare diseases. This disorder is characterized by an abnormal increase in certain immune cells called histiocyte cells. Pathology, imaging and treatment of skeletal involvement. Langerhans cell histiocytosis lch, previously called histiocytosis x, refers to a spectrum of disease characterized by idiopathic proliferation of histiocytes producing. I want to share with everyone a very rare terrible childhood disease. Langerhans cell histiocytosis lch adult histiocyte disorders are rare diseases. Cellspecific gene expression in langerhans cell histiocytosis lesions reveals a distinct profile compared to epidermal 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 a rare disorder in which the body makes too many dendritic cells. The cells build up in the body, sometimes damaging organs or forming tumors.
Langerhans cell histiocytosis archives of pathology. Langerhans cell histiocytosis hematology and oncology. Langerhans cell histiocytosis lch is a disorder in which accumulation of lch cells occurs. Langerhans cell histiocytosis lch in adults is a rare disorder that occurs when the body produces too many langerhans cells histiocytes, which are a type of white blood cell that helps fight infection.
These cells play a role in the bodys immune system. Treatment depends on the site and extent of disease. Lch cells are a type of dendritic cell which fights infection. This book is distributed under the terms of the creative commons. Children are more often affected than adults, and the bone marrow. Langerhans cell histiocytosis nord national organization.
Sometimes there are mutations changes in lch cells as they form. Langerhans cell histiocytosis is a rare condition, slightly more common in boys than girls, affecting around one in 5 million children and fewer adults. A key part of the classification of lch as a neoplasm has been the identification of braf v600e mutations in 35% to 60% of cases. Langerhans cell histiocytosis lch is a rare clonal proliferative disease characterized by the infiltration of a single organ or multiple organs by cells phenotypically similar to langerhans cells lcs.
The case of a young woman, affected by turner syndrome and a solitary intraparenchymal lch associated with an osteolytic lesion of the overlying skull, is presented. In the past, this disorder was thought to be a type of cancer or a condition similar to cancer. As opposed to juvenile xanthogranuloma, cells in the former condition are more spindly, with coffeebean nuclei. Some forms of histiocytosis resolve without treatment, but others may have a fatal outcome. Langerhans cell histiocytosis is a disease of myeloid dendritic cells, lymphocytes, and macrophages mixed with eosinophils and neutrophils. Langerhans cell histiocytosis is a disorder in which excess immune system cells called langerhans cells build up in the body. Pathology multiple centrilobular, discrete nodular infiltrates peribronchiolar with stellate extension into surrounding alveolar walls. Pathology of langerhans cell histiocytosis histiocytosis x dr. Lch results from the bodys overproduction of immature histiocytes, which are a type of white blood immune cell. In the rare disease langerhans cell histiocytosis lch, an excess of cells similar to these cells are produced. Other organs involved are the liver, spleen, the hematopoietic.
Since recent research demonstrated langerhan cell involvement as well as histiocytes, this led to a proposal that the term langerhans cell histiocytosis lch be used in place of histiocytosis x. Langerhans cell histiocytosis lch histiocytosis x, eosinophilic granuloma, abtletterersiwe, handschullerchristian, diffuse reticuloendotheliosis pediatric cancer guide dvdrom medical ventures press on. Get detailed treatment information for lch in this summary for clinicians. Langerhans cell histiocytosis previously called histiocytosis x involving the skin is the main differential diagnosis of juvenile xanthogranuloma. Nosology and pathology of langerhans cell histiocytosis. The hallmark of lch is the proliferation and accumulation of a specific histiocyte. Jul 28, 2004 langerhans cell histiocytosis lch is manifested in a variety of ways, the most common being the eosinophilic granuloma, a localized, often solitary bone lesion that occurs predominantly in the pediatric age group.
A langerhans cell is a type of white blood cell that normally helps the body fight off infection. 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. Lch may present as a single bone lesion, skin rash, or as invasive disseminated disease and occurs typically in the pediatric and adolescent population. Infiltration by langerhans cells polygonal cells with eosinophilic cytoplasm, oval nuclei with longitudinal grooves resembling coffee beans eosinophils, giant cells, neutrophils, foam cells, lymphocytes, plasma cells, fibrosis, necrosis. Langerhans cell histiocytosis lch is a rare disease involving clonal proliferation of cells with characteristics similar to bone marrowderived langerhans cells. The skeleton is the most commonly involved organ system in langerhans cell histiocytosis lch and is by far the most common location for singlelesion lch, often referred to as eosinophilic granuloma eg the terms are used interchangeably in this article. The cytology of langerhans cell histiocytosis histiocytosis x authors. Either term refers to three separate illnesses listed in order of increasing severity. Cutaneous histiocytoses are classified according to the type of histiocyte within the skin. Langerhans cell histiocytosis a generic term that encompasses a group of disorders characterized by proliferation of langerhans cells, which are specialized cells found in the epidermis that function as part of the immune system. It has been referred to by several eponyms handschullerchristian disease, abtletterersiwe disease or letterersiwe disease, and histiocytosis x. Langerhans cell histiocytosis lch treatment depends on where it is found in the body and whether the lch is low or high risk. Langerhans cell histiocytosis, abbreviated lch, is a rare disorder of tissue macrophages.
Langerhans cell histiocytosis, often called lch, is a disorder where the body produces too many langerhans cells. Langerhans cell histiocytosis causes, symptoms, diagnosis. These disorders are believed to arise from disturbances in regulation of the immune system. Histiocyte cells are a form of white blood cells that help the immune system destroy foreign materials and fight infection. Langerhans cell histiocytosis treatment pdqpatient. Langerhans cell histiocytosis a spectrum of diseases formerly known as histiocytosis x and now called langerhans cell histiocytosis is characterized by erk pathway activation including braf v600e. Sep 11, 2017 symptoms of langerhans cell histiocytosis lch can vary greatly from person to person depending on how much of the body is involved and what parts are affected. Treatment can include chemotherapy, surgery, radiation therapy, photodynamic therapy, immunotherapy, and targeted therapy. 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. Langerhans cell histiocytosis statpearls ncbi bookshelf.
Langerhans cell histiocytosis also called histiocytosis x is a rare disorder that primarily affects children. Symptoms range from isolated bone lesions to multisystem disease. Langerhans cell histiocytosis lch histiocytosis x, eosinophilic granuloma, abtletterersiwe, handschullerchristian. Langerhans cell histiocytosis may develop at any age but most commonly occurs in childhood years of age. Dendritic cells are a form of histiocyte, or white blood cell. However, recent studies suggest abnormal immune regulation as an important factor.
They can be found in the skin, lungs, stomach, bone, eyes and intestines. Langerhans cell histiocytosis lch is a dendritic cell antigenpresenting cell disorder. We report a case of a 41yearold man with a history of persistent unilateral ear discharge associated with an aural polyp. Pubmed abstract allen ce, li l, peters tl, et al cellspecific gene expression in langerhans cell histiocytosis lesions reveals a distinct profile compared with epidermal langerhans cells. In bone this may cause pain and adjacent softtissue swelling, but. A novel antibody, jl1, has been described as a specific marker in lch. These include mutations of the braf, map2k1, ras and. Langerhans cell histiocytosis skeletal manifestations radiology. Langerhans cell histiocytosis masquerading as aneurysmal. Langerhans cell histiocytosis lch is a disorder of myeloid neoplasia of dendritic cells that affects 1 in 200,000 children dec 28, 2018. Langerhans cell histiocytosis lch treatment may include observation alone, surgery, radiation therapy, or oral, topical, and intravenous medication. These histiocytes, along with lymphocytes, macrophages, and eosinophils may infiltrate nearly every organ most notably the. Langerhans cell histiocytosis an overview sciencedirect topics.
Histological features of langerhans cell histiocytosis lch. Bone marrow findings at diagnosis in patients with. Langerhans cell histiocytosis an overview sciencedirect. Langerhans cell histiocytosis is rare, affecting one in 250,000 children and one in 1 million adults in the united states. Langerhans cell histiocytosis skeletal manifestations. Langerhans cell histiocytosis lch is a rare cancer that begins in lch cells.
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