Symptoms of Langerhans cell histiocytosis (LCH) depend on the severity of the condition and the location of the cells, and on which tissues and organs it affects.

Not all children with the disease have the same symptoms. It’s also important to note that these symptoms can also be caused by other health problems, so it’s imperative for a child with these symptoms to see a doctor to find out the potential cause.

  • Pain, swelling or lump in a bone that does not go away
  • Broken bone from only a minor injury or for no apparent reason
  • Loose teeth (when not expected) or swollen gums
  • Ear infection, cysts in the ear or fluid oozing from the ear
  • Skin rash, such as on the scalp or buttocks
  • Swollen lymph nodes in the neck (also called swollen glands)
  • Liver problems, which may cause jaundice (yellow color in the whites of the eyes; or yellowing of the skin), fluid in the belly, diarrhea or vomiting. Many patients seeking care from the LCH Center have experienced extensive damage to the liver due to uncontrolled LCH. Our team collaborates with pediatric hepatologists at Cincinnati Children’s to address their specific concerns.
  • Bulging eyes or other eye problems
  • Cough and trouble breathing
  • Weight loss for no reason
  • Not gaining weight or growing normally (also called failure to thrive)
  • Not wanting to eat or having problems feeding
  • Needing to urinate more often than normal and being very thirsty
  • Fever, fatigue and weakness

Diagnosis of LCH

To diagnose LCH, doctors must test cells from the patient’s tissue or bone. If the patient has LCH, the next step is to do molecular testing, which can typically show which specific gene mutation is responsible for the disease.

Patients with the most common genetic mutation (BRAFV600E) receive dabrafenib. Other patients, including those with non-LCH forms of the disease (JXG, RDD, etc.), receive trametinib.

The Cincinnati Children’s Molecular Genetics Laboratory, one of the largest and most specialized in the country, provides molecular testing and test interpretation.

When patients are unable to travel to Cincinnati Children’s, our hematologists / oncologists can help their hometown physician choose the best therapy and carry it out.