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Histiocytosis
Langerhans cell histiocytosis; Eosinophilic granuloma
Histiocytosis 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 .
Histiocytes
A histiocyte is a type of immune cell. It destroys foreign substances to protect the body from infection.
Recently, new knowledge about this family of diseases has led experts to develop new classifications. Five categories have been proposed:
- L group -- includes Langerhans cell histiocytosis
- 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.
Causes
There has been debate as to whether Langerhans cell histiocytosis is an inflammatory, immune disorder, or a cancer-like condition. Recently, the era of genomics has helped show that Langerhans cell histiocytosis is likely due to acquired changes in the genes (mutations) in early white blood cells, which leads to abnormal behavior. 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.
Pulmonary histiocytosis X is a specific type of histiocytosis X that involves swelling of the small airways and small blood vessels in the lungs. This inflammation leads to lung stiffening and damage. It is most common in 30 to 40 year old adults, who most often smoke cigarettes. The cause is unknown.
Symptoms
Histiocytosis X often affects the whole body. A disease that affects the whole body is called a "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 (possibly)
- Delayed puberty
- Dizziness
- Ear drainage that continues long-term
- Eyes that appear to stick out more and more
- Irritability
-
Failure to thrive
Failure to thrive
Failure 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 gender....
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- Frequent urination
- Headache
- Jaundice
- Limping
- Mental decline
- Rash
-
Seborrheic dermatitis
of the scalp
Seborrheic dermatitis
Seborrheic dermatitis is a common, inflammatory skin condition that causes flaky, white to yellowish scales to form on oily areas such as the scalp, ...
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- 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 pain
Chest pain is discomfort or pain that you feel anywhere along the front of your body between your neck and upper abdomen.
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Cough
Cough
Coughing 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...
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Fever
Fever
Fever 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...
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General discomfort, uneasiness, or
ill feeling
Ill feeling
Malaise is a general feeling of discomfort, illness, or lack of well-being.
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- Rash
-
Shortness of breath
Shortness of breath
Breathing difficulty may involve:Difficult breathingUncomfortable breathingFeeling like you are not getting enough air
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Weight loss
Weight loss
Unexplained 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...
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Exams and Tests
There are no specific blood tests for Langerhans cell histiocytosis.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 biopsy
A 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...
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Complete blood count (
CBC
)
CBC
A 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...
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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 body
A 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...
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Tests for adults may also include:
-
Bronchoscopy
with
biopsy
Bronchoscopy
Bronchoscopy 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 ArticleBiopsy
A biopsy is the removal of a small piece of tissue for laboratory examination.
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Chest x-ray
Chest x-ray
A chest x-ray is an x-ray of the chest, lungs, heart, large arteries, ribs, and diaphragm.
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Pulmonary function tests
Pulmonary function tests
Pulmonary function tests are a group of tests that measure breathing and how well the lungs are functioning.
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Langerhans cell histiocytosis is sometimes linked to cancer. CT scans and biopsy should be done to rule out possible cancer.
Treatment
Langerhans cell histiocytosis is such a rare disorder that information about the best possible treatment is limited. For this reason, people with the condition are encouraged to take part in a well-designed clinical trial.
People with Langerhans cell histiocytosis involving only a single place such as bone or skin may be treated with local surgery. However, they will need close follow-up to look for disease spread.
People with widespread Langerhans cell histiocytosis require medicines. In most cases, prednisone and vinblastine are the first drugs tried. Smoking may worsen the response to treatment and should be stopped.
Other medicines or treatments may be used, depending on the outlook (prognosis) and response to the starting medicines. Such treatments may include:
- Cyclophosphamide
- 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 symptoms
Support Groups
Histiocytosis Association www.histio.org
Outlook (Prognosis)
Langerhans cell histiocytosis affects 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 bodywide 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 fibrosis
Interstitial lung disease is a group of lung disorders in which the lung tissues become inflamed and then damaged.
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Children may also develop:
- Anemia caused by spreading of the tumors to the bone marrow
-
Diabetes insipidus
(a rare form of diabetes)
Diabetes insipidus
Diabetes insipidus is an uncommon condition in which the kidneys are unable to prevent the excretion of water.
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- 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 for the childhood forms of this disease.
References
Emile J-F, Abla O, Fraitag S, et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood . 2016;127(22):2672-2681. PMID: 26966089. www.ncbi.nlm.nih.gov/pubmed/26966089 .
Haupt R, Minkov M, Astigarraga I, et al. Langerhans cell histiocytosis (LCH): guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years. Pediatr Blood Cancer . 2013;60(2):175-184. PMID: 23109216. www.ncbi.nlm.nih.gov/pubmed/23109216 .
Hyman DM, Puzanov I, Subbiah V, et al. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med . 2015;373(8):726-736. PMID: 26287849. www.ncbi.nlm.nih.gov/pubmed/26287849 .
Zinn DJ, Chakraborty R, Allen CE. Langerhans cell histiocytosis: emerging insights and clinical implications. Oncology . 2016;30(2):122-132, 139. PMID: 26888790. www.ncbi.nlm.nih.gov/pubmed/26888790 .
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Eosinophilic 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 skull
illustration
-
Respiratory system - illustration
Air is breathed in through the nasal passageways, travels through the trachea and bronchi to the lungs.
Respiratory system
illustration
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Eosinophilic 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 skull
illustration
-
Respiratory system - illustration
Air is breathed in through the nasal passageways, travels through the trachea and bronchi to the lungs.
Respiratory system
illustration
Review Date: 6/9/2016
Reviewed By: Gordon A. Starkebaum, MD, Professor of Medicine, Division of Rheumatology, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
