Testing and diagnosis

Diagnosing Langerhans cell histiocytosis requires a careful and complete medical workup and examination of your child. Symptoms of LCH can be similar to benign bone lesions, such as aneurysmal bone cysts, fibrous dysplasia and others.

Because of this, clinicians at CHOP use a variety of diagnostic tests to correctly identify Langerhans cell histiocytosis in your child, including:

• X-rays, which produce images of bones.
• Magnetic resonance imaging (MRI), which uses a combination of large magnets, radiofrequencies and a computer to produce detailed images of organs, soft tissues, muscles, ligaments and other structures within the body. Your child is exposed to no radiation during an MRI.
• Computed tomography (CT) scan, which uses a combination of X-rays and computer technology to produce cross-sectional images ("slices") of the body.
• Needle biopsy, which is a procedure where a doctor places a small needle through the skin and into the lesion to withdraw a small sample of the abnormal tissue. The tissue is analyzed to confirm any findings.
• EOS imaging, an imaging technology that creates 3-dimensional models from two planar images. Unlike a CT scan, EOS images are taken while the child is in an upright or standing position, enabling improved diagnosis due to weight-bearing positioning.

Treatments

There are many treatment options available for LCH, and some children will need a combination of these therapies. At CHOP, experts at the Bone and Soft Tissue Tumor Program take a team approach to treatment. Orthopedic and other pediatric specialists collaborate to provide your child with individualized care and the best possible outcomes.

Our program is led by Kristy L. Weber, MD, and Alexandre Arkader, MD, nationally renowned surgeons who specialize in treating bone and soft tissues tumors, limb-sparing surgery and reconstructive surgery.

Your child’s treatment for Langerhans cell histiocytosis will depend on how many organ systems are affected. If there are no neurological problems as a result of the tumor, your child’s physician may recommend “watchful waiting” — regular monitoring.

Most cases of Langerhans cell histiocytosis resolve on their own.

Some lesions resolve after a needle biopsy — a test used during diagnosis. In some cases, clinicians simply withdraw a sample of cells during the biopsy. In other cases, clinicians also inject a steroid into the lesion to promote healing. With or without a steroid, the biopsy appears to disrupt the lesion and cause it to dissolve. Doctors at CHOP are investigating why this occurs.

In more severe cases of Langerhans cell histiocytosis, medical or surgical treatment may be recommended.

Surgical treatment for LCH is generally a simple surgical removal of the lesion from the bone surface. In some cases, such as if the lesion was found on the spine, the affected bone may need to be reinforced with metal plates and screws on the outside of the bone or a metal rod placed inside the bone.

Chemotherapy 

Low-dose chemotherapy may be recommended when Langerhans cell histiocytosis is more widespread throughout a child’s body, sometimes affecting multiple organs.

Other therapies 

In rare cases, Langerhans cell histiocytosis affects a child’s spine and a temporary back brace may be recommended to treat or avoid kyphosis, a forward curve of the spine that can lead to a “hunchback” look. Kyphosis can prevent normal lung development and function.  The bone affected by LCH heals without surgery.

Follow-up care

Follow-up care for Langerhans cell histiocytosis will depend on which treatment your child received. If doctors recommended watchful waiting — and the lesion has not resolved — ongoing monitoring will be needed. During follow-up visits, X-rays and other diagnostic testing of the tumor site are recommended to closely monitor your child’s health.

One-third to one-half of all patients with a form of Langerhans cell histiocytosis will experience some complications ranging from physical disabilities to neuropsychological defects.

The more widespread forms of Langerhans cell histiocytosis can affect multiple areas of the body depending on the condition, so your child may need to follow up with a variety of clinical specialists in addition to an orthopedic surgeon. Annual monitoring by experienced medical staff is strongly encouraged.

Follow-up care and ongoing support and services for your child and family are available at our Main Campus and throughout our CHOP Care Network. Our team is committed to partnering with parents and referring physicians to provide the most current, comprehensive and specialized care possible for your child.

Outlook

Most children do well after a diagnosis of Langerhans cell histiocytosis. While many lesions resolve on their own, some may require treatment.

Patients with a single lesion generally have an excellent prognosis. Those with multiple lesions in one area of the body fare almost as well; while patients with disease throughout the body — such as those with Letterer-Siwe disease — face the most challenges.