BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuHistiocytosisLangerhans cell histiocytosis; Erdheim-Chester diseaseHistiocytosis is a general name for a group of disorders or "syndromes" that involve an abnormal increase in the number of specialized white blood cells that are called histiocytes.HistiocytesA histiocyte is a type of immune cell. It destroys foreign substances to protect the body from infection.Read Article Now Book Mark Article Recently, new knowledge about this family of diseases has led experts to develop a new classification. Five categories have been proposed:L group -- includes Langerhans cell histiocytosis and Erdheim-Chester disease C group -- includes non-Langerhans cell histiocytosis that involves the skin M group -- includes malignant histiocytosis R group -- includes Rosai-Dorfman disease H Group -- includes hemophagocytic lymphohistiocytosis This article focuses only on the L group, which includes Langerhans cell histiocytosis and Erdheim-Chester disease. Causes There has been debate as to whether Langerhans cell histiocytosis and Erdheim-Chester disease are inflammatory, immune disorders, or cancer-like conditions. Recently, through the use of genomics scientists have found that these forms of histiocytosis show gene changes (mutations) in early white blood cells. This leads to abnormal behavior in the cells. The abnormal cells then increase in various parts of body including the bones, skin, lungs, and other areas.Langerhans cell histiocytosis is a rare disorder that can affect people of all ages. The highest rate is among children ages 5 to 10. Some forms of the disorder are genetic, which means they are inherited.Erdheim-Chester disease is a rare form of histiocytosis affecting mainly adults that involves multiple parts of the body. Symptoms Both Langerhans cell histiocytosis and Erdheim-Chester disease can affect the whole body (systemic disorder).Symptoms can vary between children and adults, but they may have some of the same symptoms. Tumors in weight-bearing bones, such as the legs or spine, may cause the bones to fracture without an obvious reason.Symptoms in children may include:Abdominal pain Bone pain Delayed puberty Dizziness Ear drainage that continues long-term Eyes that appear to stick out more and more Irritability Failure to thrive Failure to thriveFailure to thrive refers to children whose current weight or rate of weight gain is much lower than that of other children of similar age and sex....Read Article Now Book Mark Article Fever Frequent urination Headache Jaundice Limping Mental decline Rash Seborrheic dermatitis of the scalp Seborrheic dermatitisSeborrheic dermatitis is a common inflammatory skin condition. It causes flaky, white to yellowish scales to form on oily areas such as the scalp, f...ImageRead Article Now Book Mark Article Seizures Short stature Swollen lymph glands Thirst Vomiting Weight loss Note: Children over 5 years old often have only bone involvement.Symptoms in adults may include:Bone pain Chest pain Chest painChest pain is discomfort or pain that you feel anywhere along the front of your body between your neck and upper abdomen.ImageRead Article Now Book Mark Article Cough CoughCoughing is an important way to keep your throat and airways clear. But too much coughing may mean you have a disease or disorder. Some coughs are d...ImageRead Article Now Book Mark Article Fever FeverFever is the temporary increase in the body's temperature in response to a disease or illness. A child has a fever when the temperature is at or abov...ImageRead Article Now Book Mark Article General discomfort, uneasiness, or ill feeling Ill feelingMalaise is a general feeling of discomfort, illness, or lack of well-being.Read Article Now Book Mark Article Increased amount of urine Rash Shortness of breath Shortness of breathBreathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough airImageRead Article Now Book Mark Article Thirst and increased drinking of fluids Weight lossWeight lossUnexplained weight loss is a decrease in body weight, when you did not try to lose the weight on your own. Many people gain and lose weight. Uninten...Read Article Now Book Mark Article Exams and Tests There are no specific blood tests for Langerhans cell histiocytosis or Erdheim-Chester disease. The tumors produce a "punched-out" look on a bone x-ray. Specific tests vary, depending on the age of the person.Tests for children may include:Biopsy of skin to check for Langerhans cells Bone marrow biopsy to check for Langerhans cells Bone marrow biopsyA bone marrow biopsy is the removal of marrow from inside bone. Bone marrow is the soft tissue inside bones that helps form blood cells. It is foun...ImageRead Article Now Book Mark Article Complete blood count (CBC) CBCA complete blood count (CBC) test measures the following:The number of red blood cells (RBC count)The number of white blood cells (WBC count)The tota...ImageRead Article Now Book Mark Article X-rays of all the bones in the body to find out how many bones are affected X-rays of all the bones in the bodyA skeletal x-ray is an imaging test used to look at the bones. It is used to detect fractures, tumors, or conditions that cause wearing away (degene...ImageRead Article Now Book Mark Article Test for a gene mutation in BRAF V600E Tests for adults may also include:Biopsy of any tumor or mass Imaging of the body, including x-ray, CT scan, MRI, or PET scan Bronchoscopy with biopsy BronchoscopyBronchoscopy is a test to view the airways and diagnose lung disease. It may also be used during the treatment of some lung conditions.ImageRead Article Now Book Mark Article BiopsyA biopsy is the removal of a small piece of tissue for laboratory examination.Read Article Now Book Mark Article Pulmonary function tests Pulmonary function testsPulmonary function tests are a group of tests that measure breathing and how well the lungs are functioning.ImageRead Article Now Book Mark Article Blood and tissue testing for gene mutations including BRAF V600E. This testing may need to be done at a specialized center. Langerhans cell histiocytosis is sometimes linked to cancer. CT scans and biopsy should be done to rule out possible cancer. Treatment People with Langerhans cell histiocytosis that involves only a single area (such as bone or skin) may be treated with local surgery. However, they will need to be followed closely to look for signs that the disease has spread. People with widespread Langerhans cell histiocytosis or Erdheim-Chester disease require medicines to reduce symptoms and control the spread of the disease. Recent studies show that nearly all adults with widespread histiocytosis have gene mutations in the tumors, which appear to cause the disorder. Medications that inhibit these gene mutations, such as vemurafenib are currently available. Other similar drugs are also in development. Langerhans cell histiocytosis and Erdheim-Chester disease are very rare disorders. Therefore there is limited information about the best course of treatment. People with these conditions may want to take part in ongoing clinical trials designed to identify new treatments. Other medicines or treatments may be used, depending on the outlook (prognosis) and response to the starting medicines. Such treatments may include:Interferon alpha Cyclophosphamide or vinblastine Etoposide Methotrexate Vemurafenib, if the BRAF V600E mutation is found Stem cell transplantation Other treatments may include:Antibiotics to fight infections Breathing support (with a breathing machine) Hormone replacement therapy Physical therapy Special shampoos for scalp problems Supportive care (also called comfort care) to relieve symptomsIn addition, people with these conditions who smoke are encouraged to stop since smoking may worsen the response to treatment. Support Groups Histiocytosis Association -- histio.org Outlook (Prognosis) Langerhans cell histiocytosis and Erdheim-Chester disease can affect many organs and can lead to death.About one half of those with pulmonary histiocytosis improve, while others have permanent loss of lung function over time.In very young people, the outlook depends on the specific histiocytosis and how severe it is. Some children can live a normal life with minimal disease involvement, while others do poorly. Young children, especially infants, are more likely to have body-wide symptoms that lead to death. Possible Complications Complications may include:Diffuse interstitial pulmonary fibrosis (deep lung tissues that become inflamed and then damaged) Diffuse interstitial pulmonary fibrosisInterstitial lung disease (ILD) is a group of lung disorders in which the lung tissues become inflamed and then damaged.ImageRead Article Now Book Mark Article Spontaneous collapsed lungChildren may also develop:Anemia caused by spreading of the tumors to the bone marrow Diabetes insipidus Diabetes insipidusDiabetes insipidus (DI) is an uncommon condition in which the kidneys are unable to prevent the excretion of water. DI is not the same as diabetes me...ImageRead Article Now Book Mark Article Lung problems that lead to lung failure Problems with the pituitary gland that lead to growth failure When to Contact a Medical Professional Call your health care provider if you or your child has symptoms of this disorder. Go to the emergency room if shortness of breath or chest pain develops. Prevention Avoid smoking. Quitting smoking can improve the outcome in people with Langerhans cell histiocytosis that affects the lungs.There is no known prevention of this disease.Open ReferencesReferencesGoyal G, Young JR, Koster MJ, et al. The Mayo Clinic Histiocytosis Working Group consensus statement for the diagnosis and evaluation of adult patients with histiocytic neoplasms: Erdheim-Chester disease, Langerhans cell histiocytosis, and Rosai-Dorfman disease. Mayo Clin Proc. 2019;94(10):2054-2071. PMID: 31472931 pubmed.ncbi.nlm.nih.gov/31472931/.Rollins BJ, Berliner N. Histiocytoses. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 160.AllVideoImagesTogEosinophilic granuloma - X-ray of the skull - illustration This X-ray of the skull shows an eosinophilic granuloma (a lesion made-up of a type of white blood cell). This condition can range from a single eosinophilic granuloma to massive infiltration of skin, bone, and body organs.Eosinophilic granuloma - X-ray of the skullillustrationRespiratory system - illustration Air is breathed in through the nasal passageways, travels through the trachea and bronchi to the lungs.Respiratory systemillustrationEosinophilic granuloma - X-ray of the skull - illustration This X-ray of the skull shows an eosinophilic granuloma (a lesion made-up of a type of white blood cell). This condition can range from a single eosinophilic granuloma to massive infiltration of skin, bone, and body organs.Eosinophilic granuloma - X-ray of the skullillustrationRespiratory system - illustration Air is breathed in through the nasal passageways, travels through the trachea and bronchi to the lungs.Respiratory systemillustrationRelated Information Histiocyte(Special Topic)Bone x-ray(Medical Test)Anemia(Condition)Interstitial lung disease(Condition)Diabetes insipidus(Condition)Anemia(In-Depth) Review Date: 5/31/2020 Reviewed By: Diane M. Horowitz, MD, Rheumatology and Internal Medicine, Northwell Health, Great Neck, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. 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