Review open access pulmonary langerhans cell histiocytosis harpreet s suri1, eunhee s yi2, gregorz s nowakowski3 and robert vassallo1,4 abstract pulmonary langerhans cell histiocytosis plch is a relatively uncommon lung disease that generally, but not. Newlyappearing lung nodules on surveillance imaging in patients with preexisting lung cancer can present a diagnostic dilemma when. Langerhans cell histiocytosis lch and lymphangioleiomyomatosis lam. About 1 in 200,000 people get langerhans cell histiocytosis each year. Infiltrate decreases, ultimately leading to scars with few or no langerhans cells. Most cases affect children between 1 and 15 years old, with the majority of new cases in children between 5 and 10. Cd1apositive langerhans cells produce inflammatory chemokines that are responsible for their own recruitment and retention.
Pulmonary langerhans cell histiocytosis plch restrictive. Family history of cancer or having a parent who was exposed to certain chemicals may increase the risk of lch. Pulmonary langerhans cell histiocytosis lch has been with us for over fifty years. Pulmonary langerhans cell histiocytosis in a heavy marijuana smoker s. Pulmonary langerhans cell histiocytosis plch is a diffuse lung disease that usually affects young adult smokers. Nonetheless, the authors are successful in combining serial microscopic. Define the imaging features of pulmonary langerhans cell histiocytosis. Pulmonary langerhans cell histiocytosis associated with. A randomized trial of treatment for multisystem langerhans cell histiocytosis. It is caused by a disorder of myeloid dendritic cells. Pulmonary langerhans cell histiocytosis plch is an interstitial lung disease ild occurring nearly exclusively in smokers. A stepwise diagnostic approach to cystic lung diseases for. 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. Dec 28, 2018 lch is relatively more common in children than in adults.
Pulmonary langerhans cell histiocytosis plch is a relatively uncommon lung disease that generally, but not invariably, occurs in cigarette smokers. Pulmonary langerhans cell histiocytosis plch, pulmonary eosinophilic granuloma is a rare disease of clonal dendritic cells that primarily. The prognosis for children is highly variable, with infants and young children more likely to have systemic disease that leads to death. Langerhans cell histiocytosis is suspected in patients particularly young patients with unexplained pulmonary infiltrates, bone lesions, or ocular or craniofacial abnormalities. Adult pulmonary langerhans cell histiocytosis european. Most mutations activate signaling enzymes that result in extracellularsignalregulated kinase erk activation. Some scholars conclude that combine hrct with the context of the. 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. Pulmonary langerhans cell histiocytosis plch pulmonary langerhans cell histiocytosis plch is a unique form of lch in that it occurs almost exclusively in cigarette smokers.
In adults, by contrast, the lung is the most common and usually the sole organ affected. Get my notes in pdf files that are downloadable at s. The disease is characterised by formation of eosinophilic. Approximately 50% of patients with plch harbor somatic brafv600e mutations in cells of the myeloidmonocyte lineage. In adults, pulmonary involvement with langerhans cell histiocytosis usually occurs as a singlesystem disease and is characterised by focal langerhans cell granulomas infiltrating and destroying distal. Mar 19, 2012 pulmonary langerhans cell histiocytosis plch is a relatively uncommon lung disease that generally, but not invariably, occurs in cigarette smokers. 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. Pulmonary langerhans cell histiocytosis request pdf. The chemokine ccl20mip3alpha is responsible for t cell recruitment in lesions. Simultaneous bilateral spontaneous pneumothorax in an adult patient. Development of pulmonary langerhans cell histiocytosis in a patient. They compared and contrasted the clinical, radiologic, and histologic characteristics of various causes of advanced fibrotic ild, including connective tissue diseaseassociated ild, chronic hypersensitivity pneumonitis, advanced pulmonary langerhans cell histiocytosis, endstage pulmonary sarcoidosis, erdheimchester disease, and hermansky.
Arising from the aberrant accumulation of langerhans and other immune cells, plch tends to cause a relatively isolated pulmonary involvement as compared to other forms of langerhans cell lc and histiocytic disorders. Pulmonary langerhans cell histiocytosis msd manual consumer. Langerhans cell histiocytosis is a disorder in which excess immune system cells called langerhans cells build up in the body. Plch belongs to the spectrum of langerhans cell histiocytosis lch, diseases characterized by uncontrolled proliferation and infil. Langerhans cell histiocytosis etiology bmj best practice. Lch in adults diagnosis and treatment histiocytosis.
Most mutations activate signaling enzymes that result in. Pulmonary langerhans cell histiocytosis orphanet journal of. 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. Langerhanscell histiocytosis insight into dc biology. Plch can be one manifestation of langerhans cell histiocytosis, a multisystem disease. Jci insight mapk mutations and cigarette smoke promote. A diagnosis of langerhans cell histiocytosis lch is made following a biopsy and microscopic examination of the affected tissue. Pulmonary langerhans cell histiocytosis genetic landscape includes recurrent. Pulmonary langerhans cell histiocytosis mayo clinic.
Langerhans cell histiocytosis lch, also designated as histiocytosisx or eosinophilic granuloma, is an uncommon dendritic cell disorder characterized by the. Langerhans cell histiocytosis lch is caused by an uncontrolled pathogenic clonal proliferation of dendritic cells dcs with langerhans cell lc characteristics. It is regarded as a clonal accumulation and proliferation of abnormal bone marrow derived langerhans cells. Langerhans cell histiocytosis msd manual professional edition. These dendritic cells along with lymphocytes, eosinophils and normal histiocytes form infiltrates typical for the disease which may be found in various. Pulmonary langerhans cell histiocytosis with cervical lymph node. Pulmonary langerhans cell histiocytosis plch is a relatively uncommon lung disease that generally, but not invariably, occurs in cigarette. Morphometric study of pulmonary arterial changes in. Pulmonary langerhans cell histiocytosis is an uncommon smokingrelated lung disease it is also known as eosinophilic granuloma of the lung the term langerhans cell histiocytosis refers to several different diseases. Langerhans cell histiocytosis prognosis bmj best practice.
Pulmonary langerhans cell histiocytosis is a rare granulomatous disease affecting both sexes, with greater incidence in the second and third decades of life. Pulmonary langerhans cell histiocytosis plch is a rare interstitial lung disease that typically affects young adults and is associated with cigarette smoking 20,22. Here, we report a rare case of pulmonary lch plch in an adult. Pulmonary langerhans cell histiocytosis plch is an unusual cystic lung disease that is also characterized by extrapulmonary manifestations. Feline pulmonary langerhans cell histiocytosis with. Pulmonary langerhans cell histiocytosis radiology reference. 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. The prognostic value of a response to treatment assessed at 6 weeks has also been validated, in that if the patient responds to treatment by 6 weeks, they have a better prognosis. Smokinginduced lung diseases constitute a complex group of.
Pulmonary langerhans cell histiocytosis pulmonary disorders. Sep 11, 2017 langerhans cell histiocytosis lch is a disorder that primarily affects children, but is also found in adults of all ages. Smokingrelated interstitial pneumonias and pulmonary. Sundar km, gosselin mv, chung hl, cahill bc 2003 pulmonary langerhans cell histiocytosis. Pulmonary langerhans cell histiocytosis is a disease in which monoclonal cd1apositive langerhans cells a type of histiocyte infiltrate the bronchioles and alveolar interstitium, accompanied by lymphocytes, plasma cells, neutrophils, and eosinophils. It occurs predominantly in young smokers, without gender predominance. To document the evolution of pulmonary lesions of langerhans cell histiocytosis lch with sequential computed tomography ct.
Histiocytosis and langerhans cell histiocytosis should reference each other mccaul. Search for articles by this author, first page pdf related. Pulmonary langerhans cell histiocytosis lch has been little has been added to. Pulmonary langerhans cell histiocytosis stephen c juvet md1, david hwang md phd2, gregory p downey md3 1division of respirology and clinicianscientist training program, department of medicine. Discussion dendritic cells are components of the mammalian immune system that are chiefly located in tissues that contact the external environment, such as the skin, lungs, and gastrointestinal tract. Here we describe 3 cats 2 males and 1 female with pulmonary langerhans cell histiocytosis plch.
Pulmonary lch is nonclonal and, in many cases, appears to be a reactive. The pathologic hallmark of plch is the accumulation of langerhans and other inflammatory cells in small airways, resulting in the formation of nodular inflammatory lesions. Langerhans cell histiocytosis genetic and rare diseases. Pulmonary langerhans cell histiocytosis forms part of a spectrum of diseases characterized by monoclonal proliferation and infiltration of organs by langerhans cells table 1. The lch cells in the lung and left neck lymph node were characterized by large. Pulmonary langerhans cell histiocytosis plch is an uncommon but important cause of interstitial lung disease, and it occurs predominantly in adult cigarette smokers 1. Computed tomography ct may show these changes in enough detail to establish the diagnosis. Pulmonary hypertension ph is a common complication. Pulmonary langerhans cell histiocytosis plch, also called eosinophilic granuloma of the lung, pulmonary langerhans cell granulomatosis, or pulmonary histiocytosis x, is an interstitial lung disease that occurs most often in young adults. Plch is characterized by peribronchiolar infiltration by langerhans and inflammatory cells and formation of granulomas, leading to stellate interstitial nodules 22, 29.
The full text of this article is available as a pdf 530k. Pulmonary langerhans cell histiocytosis in a heavy. Pulmonary langerhans cell histiocytosis plch is an uncommon disorder of adult smokers associated with a significant morbidity. Pulmonary langerhans cell histiocytosis definition of.
The signs and symptoms of lch depend on where it is in. It is now considered a form of smokingrelated interstitial lung disease. Current understanding and management of pulmonary langerhans. Pulmonary langerhans cell histiocytosis libre pathology. The term pulmonary langerhans cell histiocytosis was first described by farinacci in 1951 and refers to disease in adults that affects the lungs, either in isolation or in addition to other organ systems 1. Its clinical course is typically characterized by stabilization or regression of bilateral micronodular infiltrates seen on chest radiographs. Pulmonary langerhans cell histiocytosis has a variable appearance depending on the stage of disease, ranging from small peribronchiolar nodular opacities to. Etiology is unknown, but cigarette smoking plays a primary role.
While the overwhelming majority of patients are smokers, mechanisms by. 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. Langerhans cell histiocytosis lch is a rare disease that may affect any age group. Pulmonary langerhans cell histiocytosis springerlink.
How i manage pulmonary langerhans cell histiocytosis. There is much overlap on this article with histiocyte. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin. Recurrent nras mutations in pulmonary langerhans cell histiocytosis. Pulmonary langerhans cell histiocytosis plch is a rare histiocytic disorder that almost exclusively affects the lungs of smokers. Langerhans cell histiocytosis lch is a rare disease of unknown aetiology. Langerhans cell histiocytosis lch is the unifying designation for a rare proliferative disorder.
Pulmonary langerhans cell histiocytosis plch is a rare, smokingrelated, interstitial lung disease, and pulmonary hypertension ph is associated with mortality. Pulmonary langerhans cell histiocytosis orphanet journal. Pulmonary function testing shows that the amount of air the lungs can hold is below normal. Pulmonary langerhans cell histiocytosis plch is proliferation of monoclonal langerhans cells in lung interstitium and airspaces. Pdf pulmonary langerhans cell histiocytosis mongwei. Pulmonary langerhans cell histiocytosis radiographics. Pulmonary langerhans cell histiocytosis radiology case. 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. Initial and final ct scans of 21 patients with lch and ct evidence of pulmonary disease were compared retrospectively. Genomic alterations in langerhans cell histiocytosis.
Pulmonary langerhans cell histiocytosis plch is a rare smokingrelated lung disease characterized by dendritic cell dc accumulation, bronchiolocentric nodule formation, and cystic lung remodeling. Pulmonary langerhans cell histiocytosis plch is a relatively rare disease. The term pulmonary langerhans cell histiocytosis is used to refer to disease in adults that affects the lung, either in isolation or in addition to other organ systems. Langerhans cell histiocytosis lch belongs to a group of rare histiocytic. Chest xrays show nodules, small thickwalled lung cysts, and other changes that are typical of pulmonary langerhans cell histiocytosis. Pulmonary langerhans cell histiocytosis plch is rare in childhood but occurs most commonly in children with multisystem ms lch. Pulmonary langerhans cell histiocytosis histiocytosis x on bronchoalveolar lavage.
The disease can regress spontaneously after smoking cessation, but it sometimes progresses to chronic respiratory insufficiency 57. Southwest journal of pulmonary and critical care2017volume 15 55 correct. If the biopsy is positive for lch, some other tests may be carried out to determine the extent of disease so that a treatment plan can be made. Simultaneous bilateral spontaneous pneumothorax in an adult. Adults with pulmonary histiocytosis x have a poor prognosis. Pulmonary langerhans cell histiocytosis masquerading as. Adult pulmonary langerhans cell histiocytosis is a rare disorder of unknown aetiology that occurs predominantly in young smokers, with an incidence peak at 2040 yrs of age. People with plch experience breathing impairment that may range from mild to severe. List the pathologic features of pulmonary langerhans cell histiocytosis and address the difficulties and controversies related to its histologic diagnosis.
Pulmonary langerhans cell histiocytosis chest foundation. Arising from the aberrant accumulation of langerhans and other immune cells, plch tends to cause a relatively isolated pulmonary involvement as. Pulmonary langerhans cell histiocytosis lch is a form of langerhans cell disease that primarily affects smokers in the third to fifth decade. Pulmonary langerhans cell histiocytosis orphanet journal of rare. Aberrant chemokine receptor expression and chemokine production by langerhans cells underlies the pathogenesis of langerhans cell histiocytosis. Plch affects adults of all backgrounds, but the disease almost exclusively occurs in cigarette smokers. Langerhans cell histiocytosis genetics home reference nih.
Pulmonary langerhans cell histiocytosis plch, previously called eosinophilic granuloma of the lung, pulmonary langerhans cell granulomatosis, and pulmonary histiocytosis x, is an uncommon cystic interstitial lung disease that primarily affects young adults. Plch is one of langerhans cell histiocytosis lch diseases that are. In adults, plch is frequently isolated and affects young smokers of both sexes. Dapi blue, anticd1a red and antinrasq61r antibody green, and a merged image of all three stains. Pathologic findings were consistent with pulmonary langerhans cell histiocytosis lch. Plch is characterized by bronchiolocentric nodules andor cysts in an upper and mid lung distribution with sparing of the costophrenic angles. Lch cells are arrested in an immature, partially activated stage and show a deviant regulation of cell division. Histiocytosis is a general name for a group of syndromes where immune cells known as histiocytes monocytesmacrophages proliferate and mistakenly attack the body instead of infections. We herein report a case of plch complicated by severe ph and respiratory impairment. Journal of the copd foundation alpha1 antitrypsin deficiency. Symptoms are dyspnea, cough, fatigue, and pleuritic chest pain.
The pathologic hallmark of plch is the accumulation of langerhans and other inflammatory cells in small. The medical condition known as langerhans cell histiocytosis is a rare disorder that may cause damage to other organs of the body. May 01, 2004 discuss the clinical presentation of patients with pulmonary langerhans cell histiocytosis. While it may affect any organ of the body, few cases of solitary lung involvement are published in the literature.
The term pulmonary langerhanscell histiocytosis is used to refer to disease in adults that affects the lung, either in isolation or in addition to other organ systems. The symptoms experienced by patients depend on the organs that are affected 1, 2. 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. Analyses of plch tissues have identified activating mutations of specific mitogenactivated protein kinases. Review open access pulmonary langerhans cell histiocytosis. Pulmonary langerhans cell histiocytosis plch is a rare and serious lung disease that occurs in adults. Langerhans cell histiocytosis blood american society. No related items previous abstract next abstract 25 broadway. Medical management of langerhans cell histiocytosis from.