A rare health condition in which a type of immune system cell known as Langerhans cells begins to build up in the child’s body is called Langerhans cell histiocytosis (LCH). It often negatively affects multiple parts of the body, causing damage and tumors.
Furthermore, Langerhans cells are a type of white blood cells that help the body fight against viruses, bacteria, and other germs that can make you ill. Normally, these cells are present throughout the body, especially in the lungs, lymph nodes, bone marrow, spleen, liver, and skin. While the prognosis of this disorder varies among people, most of the time, it is good. In some cases, this condition may go away on its own.
In general, LCH occurs rarely, and it affects about 1-2 out of 1 million people each year.
What Are The Symptoms of Langerhans Cell Histiocytosis?
People usually experience different symptoms because this disorder can affect different parts of the body. Check some symptoms below:
Bone Symptoms
Approximately 80% of children who develop LCH have one or multiple lesions in their bones. Thus, it may lead to swelling or a lump over a bone. Usually, it affects the child’s skull, eye socket, ear bone, jaw bone, arms, legs, hips, spine, or ribs. In any case, LCH may also cause other symptoms. These include:
Skin Symptoms
Usually, LCH causes symptoms in the following parts of the body. These include the groin, arms, armpits, abdomen, back, and chest. Commonly, people experience one or multiple of the following skin symptoms. Examples include:
- Rash
- Oozing blisters
- Pain
- Skin tenderness or itching
- Cradle cap
- Dandruff
In some cases, you may notice your child has discolored or hardened nails.
Mouth Symptoms
These include:
- Uneven teeth
- Sores on the lips, tongue, on the roof of the mouth, or inside the cheeks
- Swollen gums
- Loose teeth
Liver and Spleen Symptoms
This health condition may also affect your child’s liver and spleen, which can cause the following symptoms. These include:
- Itching
- Extreme tiredness (fatigue)
- Easy bruising or bleeding
- Jaundice (yellowing of the eyes and skin)
- Swelling of the abdomen (belly) due to an enlarged liver or spleen
Bone Marrow Symptoms
For example:
- Anemia (low red blood cell count)
- Frequent infections
- Fever
- Reduced platelets (clotting cells) that may cause bruising or bleeding
Endocrine Symptoms
Sometimes, LCH impacts the endocrine system (including the thyroid and pituitary glands). Check some symptoms below:
- Polydipsia (excessive thirst)
- Frequent urination
- Delayed growth or late puberty
- Weight gain
- Swollen thyroid gland
- Hypothyroidism (underactive thyroid gland)
- Breathing difficulties
Ears and Eyes Symptoms
These include:
- Bulging eyes
- Itchy rash
- Hearing loss (deafness)
- Ear pain
- Vision issues
- Swelling above the eyes
- Discharge from the ear canal
- Chronic (long-term) infections
- Redness
Central Nervous System Symptoms
When the condition affects the central nervous system (CNS), your child may experience the following symptoms. For example:
- Vomiting
- Nausea
- Headaches
- Dizziness
- Increased thirst
- Loss of balance
- Walking problems
- Ataxia (uncoordinated body movements)
- Seizures
- Memory or behavior changes
- Difficulty seeing or speaking
- Frequent urination
Lungs Symptoms
Most of the time, Langerhans cell histiocytosis affects the lungs in adults, especially those who smoke. Check some symptoms below:
- Chest pain
- Dry cough
- Coughing up blood
- Pneumothorax (collapsed lung)
- Breathing problems
Gastrointestinal Tract Symptoms
- Bloody stools
- Delayed growth caused by undernutrition
- Diarrhea
- Nausea
- Vomiting
- Pain in the abdomen (belly)
It is recommended to visit a doctor right away if your child has any of the previous gastrointestinal tract symptoms because there are a lot of health conditions that can cause them.
Causes and Risk Factors
Approximately 50% of people who develop LCH have a somatic mutation in the BRAF gene. The process by which a change happens in some cells after conception is called a somatic mutation. Moreover, this abnormal gene is not inherited and happens randomly during pregnancy.
Normally, the BRAF gene helps produce a protein that controls cell growth and development. This protein can also be switched on and off in response to chemical signals in the body. However, in people with LCH, this gene does not work properly, causing LCH cells to grow and divide in an abnormal way.
In addition, some research has found other gene mutations that can also cause LCH. For example, mutations in the MAP2K1, RAS, and ARAF genes. Certain environmental toxins and viral infections could also play a role.
While anyone can develop LCH, some genes could increase the risk of your child even more. Check some examples below:
- Smoking (including secondhand smoke)
- Not receiving vaccinations
- Some infections
- Prolonged exposure to metal, granite, or wood dust in the workplace or certain chemicals during pregnancy
- Hispanic descent
- Family history – If you have a sibling or parent with Langerhans cell histiocytosis, your risk of developing it significantly increases.
What Are The Possible Complications of Langerhans Cell Histiocytosis?
More than 50% of children who develop LCH will experience complications, especially if the condition is left untreated. Check some examples below:
- Diabetes insipidus
- Mental disorders (such as anxiety, depression, and others)
- Cirrhosis
- Secondary cancers (including leukemia, lymphoma, Ewing sarcoma, and others)
- Bone and lung problems
- Hormonal imbalances
- Musculoskeletal disability
- Growth delay
- Scarring
- Chronic pain
- Cerebellar dysfunction
- Pulmonary fibrosis
This document does not contain a full list of complications, but you can consult with your healthcare professional about measures to reduce the risk or even prevent them. Unfortunately, there is no way to prevent this disorder, but doctors may recommend some tips to manage risk factors. For example, quit smoking, limit or avoid alcoholic beverages, get all recommended vaccinations, and avoid some chemicals during pregnancy.
Diagnosis
Usually, the diagnosis of LCH begins with a physical examination to check for irregularities linked to the disease. They may also perform the following tests to rule out other disorders that cause symptoms similar to Langerhans cell histiocytosis. Examples include:
- Complete blood count (CBC) – This test is used to check the levels of red blood cells, white blood cells, and platelets.
- Blood chemistry tests – During this test, doctors will take a sample of blood to look for the amount of some substances released by organs and tissues.
- Liver function tests – To determine how well the child’s liver works, they will also take a blood test.
- Urinalysis – This is a urine test used to check the levels of red blood cells, white blood cells, sugar, and proteins in the urine.
- Water deprivation test – This test helps determine how much urine the bladder can hold.
- Biopsy – During this test, physicians will remove a sample of affected tissue for testing.
- Bone marrow aspiration – Doctors will use a hollow needle that is inserted into the child’s hipbone to get a sample of bone marrow, blood, and small pieces of bone.
- Genetic test – This test is done to check for the abnormal genes that are often present in people with LCH.
Doctors may also perform imaging tests to get detailed images of different structures and organs in the body. These include:
- X-rays – It is used to get images of the bones and organs inside the body.
- Bone scan – During this test, doctors often inject a small amount of radioactive material to get clearer images of the bones.
- CT (computed tomography) scans – This is another imaging test used to get cross-sectional images of different structures and organs in the body.
- PET (positron emission tomography) scan – This test involves an injection that contains a small amount of radioactive sugar. It helps make any diseased cells brighter on the scanner.
- MRI (magnetic resonance imaging) scan – Doctors usually perform this test to get more detailed images of different parts of the body.
- Ultrasound – This imaging test uses sound waves to produce images of the internal organs and tissues.
Treatment
The treatments are often different because they depend on which part of the body is affected. Furthermore, physicians have divided this disorder into 2 types, based on how many body systems are impacted. These include:
- Single-system LCH – In such cases, the disease affects an organ or only one body system. One of the most common forms of single-system LCH is bone LCH.
- Multi-system LCH – This form affects multiple organs or body systems at the same time. It often happens less commonly compared to single-system LCH.
Rarely, this disorder may improve on its own without treatment, typically when the disease affects the skin or bones. Check below some treatment options often recommended for people who suffer from LCH:
- Steroid therapy – This treatment involves medicines (such as Prednisone) that help white blood cells function better.
- Surgery – This treatment is used to remove LCH tumors and damaged tissue. Doctors often recommend a procedure called curettage, which is a type of surgery that involves a sharp, spoon-shaped tool.
- Chemotherapy – This is a cancer treatment that involves strong medicines that destroy cancerous cells throughout the body. Doctors may also recommend this treatment before surgery to shrink a large tumor.
- Radiation therapy – This therapy involves high-energy X-rays that are delivered directly to the tumor.
- Immunotherapy – This is another cancer treatment that helps boost the immune system to find and destroy cancer cells. Typically, cancer cells produce a substance that helps them hide from the immune system.
- Targeted therapy – It also involves medicines that find and block a protein in the cancerous cells, causing them to die.
- Stem cell transplant – This treatment option helps replace blood-forming cells that are destroyed during chemotherapy.
Frequently Asked Questions
What is the prognosis for Langerhans cell histiocytosis?
Usually, the prognosis varies among people with LCH because it depends on several factors. Most of the time, children who have either single-system or multi-system LCH that does not affect the spleen, liver, or bone marrow are at low risk. It means the overall survival rate for these children is about 100% with treatment.
Is Langerhans cell histiocytosis cancer?
While many researchers consider LCH a form of neoplasm, it may also be considered an inflammatory disorder. Usually, physicians who treat cancer and blood disorders also treat LCH.
Who does Langerhans cell histiocytosis affect?
Commonly, this disorder affects newborns and children between the ages of 1 and 15. It may also affect adults, but it is less common. Ask your healthcare provider if you have any other questions.
