A history of current or previous cigarette smoking is identified in up to 95% of cases 1,4. Sep 16, 2010 langerhans cell histiocytosis lch is a rare proliferative disorder of epidermal antigenpresenting cells. Pulmonary langerhans cell histiocytosis has variable appearance depending on the stage of the disease, ranging from small peribronchiolar nodular opacities to multiple irregularlyshaped cysts. Langerhans cell histiocytosis lch is a bronchocentric disease categorized by a clonal proliferation of langerhans cells in the lungs with focal granuloma and small airways destruction resulting in nodules and cystic change. A series of 61 adult patients who presented with histologically confirmed skeletal disease was studied.
Rollins1 1department of medical oncology, danafarber cancer institute, and department of medicine, brigham and womens hospital, harvard medical school, boston, massachusetts. Langerhans cell histiocytosis an overview sciencedirect topics. Areej al mugairi, saeed al turki, hind salama, md, khlood al ahmadi, msc, khadeja a abuelgasim, moussab damlaj, isolated bone marrow nonlangerhans cell histiocytosis preceding runx1mutated acute myeloid leukemia. Most mutations activate signaling enzymes that result in. Langerhans cell histiocytosis lch is an abnormal clonal proliferation of langer hans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes. The morphology of langerhans cell histiocytosis lch involving lymph. Langerhans cell histiocytosis lch treatment may include observation alone, surgery, radiation therapy, or oral, topical, and intravenous medication. Presented in part in abstract form at the united statescanadian academy of pathology. Langerhans cell histiocytosis comprises a set of conditions ranging from a localized form represented by a solitary lesion to disseminated multiorgan involvement. Harpers textbook of pediatric dermatology, fourth edition. Langerhans cell histiocytosis lch is a dendritic cell disease.
Histological examination confirmed the diagnosis of langerhans histiocytosis. Adult langerhans cell histiocytosis the american journal of. Langerhans cell histiocytosis lch is a childhood pathology with a peak of incidence ranging from 1 to 4 years of age, though diagnosis is often made in adult age. Langerhans cell histiocytosis lch is a rare disorder of unknown etiology caused by proliferation of langerhans cells. It can present both local and systemic manifestations involving bone, skin and mucosal tissues and internal organs. Affects patients after closure of the growth cartilage. A conservative treatment was decided after a multidisciplinary consultation meeting. The responsible histiocytic cell appears to be a type of antigenpresenting dendritic or phagocytic cell called a langerhans cell. Most mutations activate signaling enzymes that result in extracellularsignalregulated kinase erk activation. Rollins1 1department of medical oncology, danafarber cancer institute, and department of. The diagnosis must always be confirmed by histopathology showing a dermal. 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. Oral manifestations of langerhans cell histiocytosis medigraphic.
Langerhans cell histiocytosis lch is a rare histiocytic disorder of unknown etiopathogenesis. 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 features. Myelodysplastic syndrome mds is a group of bone marrow disorders associated with dyplasia of myeloid elements that may have cutaneous manifestations including infections, vasculitis. Introduction langerhans cell histiocytosis lch is an uncommon disorder of the dendritic langerhans cell that lacks histologic evidence of malignancy but behaves in an aggressive manner. Langerhans cell histiocytosis lch is a clonal disorder believed to be derived from cells of the dendritic system.
Canine cutaneous histiocytoma originates from langerhans cells lcs indicated by expression of cd1a, cd11ccd18, and ecadherin. 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. The variable presentation and natural history of langerhans. 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. When disease involves the skin, lch most commonly presents as a seborrheic dermatitis or eczematous eruption on the scalp and trunk. Nosology and pathology of langerhans cell histiocytosis. Langerhans cell histiocytosis lch is a disorder that primarily affects children, but is also found in adults of all ages.
Langerhans cell histiocytosis with oral manifestations. Introduction in the past langerhans cell histiocytosis lch has been described by means of a va r iety of term s such as histiocytosis x and eosinophilic gr a n u l o m a. Pdf langerhans cell histiocytosis lch is a rare disease of unknown etiology and is characterized by a clonal proliferation of langerhans cells 1 find, read and cite all the research. Pdf pathology of histiocytic disorders and neoplasms and related disorders.
Langerhans cell histiocytosis mimicking periapical pathology in a. David weedon ao md frcpa fcaphon, in weedons skin pathology third edition, 2010. Non langerhans types of histiocytosis also occur fig. Department of otolaryngic and endocrine pathology, armed forces institute of pathology, washington, dc. Langerhans cell histiocytosis lch treatment depends on where it is found in the body and whether the lch is low or high risk. Adult langerhans cell histiocytosis arising in colonic polyp.
Langerhans cell lc disease covers a wide range of clinical presentations with peaks of incidence in early and later life. Langerhans cell histiocytosis is rare and more frequent in children. Recurrent braf mutations in langerhans cell histiocytosis. They are believed to have a role in the t cell mediated immune system that involves transfer. The diagnostic histopathology of langerhans cell histiocytosis. We publish journals, books, conference proceedings and a variety of other publications. An interesting ultrastructural feature of these cells is the presence of cytoplasmic rodlike structures called x bodies hence the name histiocytosis x or birbeck granules, which can be seen by electron microscopy. Its course varies from selflimited and localized forms to severe multisystemic forms. In 10% to 20% of cases, the initial infiltrates occur in the oral cavity, usually in the mandible.
Langerhans cell histiocytosis of the female genital tract. Langerhans cell histiocytosis, oral involvement, jaw bones. Langerhans cell histiocytosis lch is a neoplastic clonal proliferation of langerhans cells, a dendritic antigenpresenting cell type found most commonly in the epithelium of the skin and various mucosal sites. After six months, spontaneous improvement was noted. Langerhans cell histiocytosis lch, previously known as histiocytosis x, is a rare disorder of childhood that presents with histiocytic infiltration of bones, skin, liver, and other organs. Langerhans cell histiocytosis lch is a rare histiocytic disorder that may be seen in all age groups, but is most common in children from one to three years.
These conditions have in common the microscopic findings of foci of proliferating langerhans cells, usually in an inflammatory background. Langerhans cell histiocytosis lch braf map2k1 mek1 key points recurrent somatic genomic abnormalities occur in langerhans cell histiocytosis lch, indicating that it is a neoplastic disease. Fascin, a 55kd actinbundling protein, represents a highly selective marker for dendritic cells of lymphoid tissues and peripheral blood and is involved in the formation of dendritic processes in maturing epidermal langerhans cells. Langerhans cell histiocytosis lch is a group of rare disorders histologically characterized by the proliferation of langerhans cells. The histopathology of langerhans 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 is a clonal proliferation of cells that morphologically and immunophenotypically resemble langerhans cells more common in childhood 1 3 years old and involves nodal and extranodal sites most common site is bone. Langerhans cell histiocytosis lch is a rare disease involving clonal proliferation of cells with characteristics similar to bone marrowderived langerhans cells. Mnemonic for langerhans cell histiocytosis clinical. Viral, immunological, neoplastic and other pathogenetic mechanisms have been considered, but none has been proven. The pathogenic cells are defined by constitutive activation of the mapk signaling pathway. Summary langerhans cell histiocytosis lch is a clonal disease characterized. Langerhans cell granulomatosis histiocytosis x of bone in. 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. Langerhans cell histiocytosis harpers textbook of pediatric. Epidemiology and clinical manifestations of langerhans cell histiocytosis in children. It can involve single organ system to multi organ systems and clinical.
The diverse histopathology in lymph nodes involved by lch is considered in the. Hematopoietic cell transplantation and novel therapies in hemophagocytic. Langerhans cell histiocytosis lch is an inflammatory neoplasia of myeloid precursor cells driven by mutations in the mitogenactivated protein kinase pathway. Isolated bone marrow nonlangerhans cell histiocytosis.
Multiple organs and systems may be involved by the disease. Introduction in the past langerhans cell histiocytosis lch has been described by means of a va r iety of term s such as histiocytosis x. The name comes from the morphology and immunophenotype of the pathologic cells in resembling to langerhans cells, which are specialized dendritic cells found in the skin and stratified epithelia. The man was admitted because of increasing upper abdominal pain and weight loss.
Although the first clinical description of langerhans cell histiocytosis lch was published over a century ago, the aetiology and pathogenesis of this enigmatic disorder are still remained unknown. Diagnosis of langerhans cell histiocytosis on fine needle. Histiocytosis occurs predominantly in children and young adults see table 20. Detection of clonal histiocytes in langerhans cell. In part because of the diverse clinical manifestations of lch, there has l. Langerhans cell granulomatosis lcg histiocytosis x of bone is generally considered a childhood disease.
Sep 11, 2017 langerhans cell histiocytosis lch is a disorder that primarily affects children, but is also found in adults of all ages. Departments of dermatology and pathology, naval medical center, san diego, california, department of dermatology, pathology, and chemistry, university of colorado heath sciences center, denver, colorado abstract. Mar 02, 2020 langerhans cell histiocytosis is a clonal proliferation of cells that morphologically and immunophenotypically resemble langerhans cells more common in childhood 1 3 years old and involves nodal and extranodal sites most common site is bone. Langerhans cell histiocytosis lch is a clonal neoplastic proliferation of langerhanstype dendritic cells, with more than 50% of cases of lch. It is a rare disorder with no wellestablished gender predilection, which appears to be more common in caucasian populations 4 associations. Langerhans cell histiocytosis is a rare proliferative disorder where pathologic langerhans cells accumulate in a variety of organs. Congenital cases are usually exclusively cutaneous and selflimited, with spontaneous remission in months.
Langerhans cell histiocytosis statpearls ncbi bookshelf. The skin is affected in 50% of the cases and is the only site in 10%. Langerhans cell histiocytosis an overview sciencedirect. The histiocyte is a somewhat controversial cell which still lacks precise definition. I want to share with everyone a very rare terrible childhood disease. Genomic alterations in langerhans cell histiocytosis. Feb 28, 2017 langerhans cell histiocytosis lch is one of the histiocytosis disorders, as defined by the histiocyte society.
Its its clinical presentation is variable and ranges from isolated skin or bone disease to a lifethreatening multisystem. Langerhans cell histiocytosis genetic and rare diseases. Langerhans cell histiocytosis lch, previously known as histiocytosis x is a rare disease of unknown ethiology, characterized by intense and abnormal proliferation of bone marrowderived histiocytes langerhans cells. 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. Langerhans cell histiocytosis lch is an abnormal clonal proliferation of langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes. The upper gastrointestinal endoscopy showed a submucous, hemispherical tumor of the stomach wall along the lesser curvature. Langerhans cell histiocytosis lch is a rare histiocytic disorder characterized by infiltration of histiocytes that have beanshaped nuclei. Treatment depends on the site and extent of disease. Symptoms range from isolated bone lesions to multisystem disease. A rare case of solitary brain langerhans cell histiocytosis. Langerhans cell histiocytosis is an abnormal clonal proliferation of langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from skin to lymph nodes.
Langerhans cell granulomatosis histiocytosis x of bone. Langerhans cell histiocytosis lch combines in one nosological category a group of diseases that have widely disparate clinical manifestations but are all characterized by accumulation of proliferating cells with surface markers and ultrastructural features similar to cutaneous langerhans cells lcs. Langerhans cell histiocytosis is a proliferative pathology that can affect one or more organs. Langerhans cell histiocytosis lch, previously known as histiocytosis x, is a rare, proliferative disorder in which the accumulation of pathologic langerhans cells leads to local tissue.
Histiocytic disorders are a group of diseases derived from macrophages and dendritic cells resulting in a wide range of clinical conditions. Langerhans cell histiocytosis lch is a rare disorder of the reticuloendothelial system with unknown etiology. Langerhans cell histiocytosis associated with myelodysplastic. Langerhans cells are roughly 12 microns in diameter and typically have nuclei that are folded, indented or lobulated figure 4.
Pulmonary langerhans cell histiocytosis radiology reference. Pubmed abstract allen ce, li l, peters tl, et al cell specific gene expression in langerhans cell histiocytosis lesions reveals a distinct profile compared with epidermal langerhans cells. For example, bone marrow infiltration may lead to decreased blood cell production. Langerhans cell histiocytosis of the stomach with atypical. Selected aspects of the histopathology of langerhans cell histiocytosis representing diagnostic difficulty andor controversy are presented with emphasis on the composition of pathological lesions.
Despite this unified nosology, important questions about lch remain unanswered. Request permission export citation add to favorites track citation. Langerhans cell histiocytosis forming an asymptomatic solitary nodule in the spleen. Singlesite, singlesystem langerhans cell histiocytosis lch of the rib is one of. Get detailed treatment information for lch in this summary for clinicians. Clinical respiratory medicine fourth edition, 2012. A painful shoulder revealing langerhans cell histiocytosis. The cell responsible for langerhans cell histiocytosis is the langerhans cell, a cell of the dendritic cell system 4, 5, 11. Langerhans cell histiocytosis treatment pdqpatient version. Langerhans cell histiocytosis lch is a group of idiopathic disorders characterized by the presence of cells with characteristics similar to bone. Langerhans cell histiocytosis american journal of clinical. Langerhans cell histiocytosis lch is a bronchocentric disease categorized by a clonal proliferation of langerhans cells in the lungs with focal granuloma and. Pulmonary langerhans cell histiocytosis is usually identified in young adults 2040 years of age.
The world health organization, according to the type of histiocyte involved, classifies this pathology into dendritic cell disorders, macrophagerelated disorders, and malignant histiocytic disorders. Lch is part of a group of syndromes called histiocytoses, which are. Langerhans cell histiocytosis of the rib in an adult. Langerhans cell histiocytosis lch is a rare disorder characterized by proliferation of cells causing local or systemic e. Langerhans cell histiocytosis lch combines in one nosological category a group of diseases that. Proliferative disease or disorder of langerhans cells involving lung, highly associated with smoking pulmonary langerhans cell histiocytosis plch is thought to be distinct from systemic langerhans cell histiocytosis lch most common pulmonary histiocytic lesion arch pathol lab med 2008. Langerhans cell histiocytosis blood american society of.
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