Symptoms and Signs
Your doctor talks about symptoms when he means the signs of a disease, which you can notice yourself. Others signs of your disease will only be detected by special examinations. The symptoms and signs of Langerhans Cell Histiocytosis (LCH) vary a lot between different patients. Most patients have only one or two of the symptoms and signs described below. You can help your doctor figure out the right treatment by telling him the symptoms you have observed.
In 80% of all children suffering from LCH, the disease affects the bones. This means that 4 of 5 children with LCH have problems with their bones. Pain is the most common symptom of an affected bone. If the affected bone is located superficially the lesion may cause a limp or bump, which is painful on touching. On x-ray, the bone lesions appear like a hole, due to decreased density of the affected bone part. On the skull vault, the lesions typically show a pattern described as “moth-eaten” or “land-scape” appearance. (Show a picture). Changes of the marrow signal as well as changes in the adjacent soft-tissues, due to expansion of the bone lesion are characteristic findings. Only rarely LCH causes a broken bone called a fracture, which typically happens in weight-bearing bones (long bones of the extremities or the vertebral bodies).
There are quite a lot of other diseases causing similar bone problems like LCH. This is why your doctors will perform a biopsy to make sure it is LCH and to choose the correct treatment.
One third of the children with LCH have skin problems. LCH affecting the skin causes a persistent rash. A rash is a swelling or irritation of the skin. It can be red, dry, scaly, or itchy, and it can include blisters and pimples (making it alike chickenpox). Getting a few rashes during childhood is quite normal, especially for babies. They can have a rash on their head (called cradle cap), below their nappy (called nappy rash) or in the folds of their skin. The rashes caused by LCH are often very much alike. This is why doctors sometimes mix it up with the wrong disease. A suspicion about LCH raises when the skin changes persist for a long time or are not influenced by commonly used ointments. The diagnosis is much more straightforward if the skin lesions are associated with other signs and symptoms, like enlarged liver and spleen. Even in a case of quite typical appearance, the doctors will have to take a biopsy to see if it's really LCH.
LCH affecting one or two ears causes ongoing infections or discharge.
Most kids have had an ear infection, for example an otitis media. Media means middle, so when you get this kind of ear infection; germs get into the middle part of the ear causing fluid or pus to build up in the space behind the eardrum. This makes your ear sore. Ear affection by LCH presents very similarly to the very common otitis media in preschool children. The doctors start thinking of LCH only when the assumed ear infection causes discharge and does not improve or recur despite optimal treatment.
Internal organs possibly affected by LCH are liver, spleen, bone marrow, and lung. LCH may also cause diarrhoea, sickness and poor gain in weight.
LCH can cause enlarged liver, which can be felt by experienced doctor on palpation and verified by sonography. In rare case, the liver function can be jeopardized, and the patients can have jaundice (“yellow eyes”).
The spleen is enlarged in less 20% of the patients and usually this is associated with decreased blood counts. Decreased blood counts can however, be due to bone marrow involvement, and the doctor will perform a bone marrow tap to rule out marrow affection.
Lung involvement can be asymptomatic or present with cough, shortness of breath or chest pain. In the x-ray or lung computed tomography (CT) one can see compactions or cysts in the lungs.
Excessive Thirst and Urination
LCH affecting the pituitary gland can implicate hormonal problems. This can cause a disease called diabetes insipidus, which is characterised by being horribly thirsty and/or peeing an awful lot. Doctors call excessive thirst polydipsia and excessive urinating polyuria. It is due to loss of a hormone usually produced by the posterior part of the pituitary (called neurohypophysis).
Growth and Puberty
LCH affecting the anterior pituitary gland can implicate hormonal deficits. This can cause problems with growth and puberty.
- LCH can affect the eye causing vision problems or bulging.
- It can also affect teeth and gums causing loose teeth or swollen gums.
- Rarely, LCH affects the brain or the spinal cord causing some neurologic deficits like problems with balance, movement and/or concentration and speech.
- An LCH patient may also have general symptoms such as fevers or weakness.
Some children however seem very well, which can make it even harder to take in the correct diagnosis.