ConditionCancer
Langerhans Cell Histiocytosis (LCH)
Langerhans cell histiocytosis (LCH) is a rare disorder in which abnormal immune cells called Langerhans-type cells multiply and collect in tissues, forming lesions that damage bone, skin, lungs, the pituitary gland and other organs. It is now classed as a myeloid neoplasm, driven in most cases by mutations such as BRAF V600E. It is most common in children aged 1 to 3 but occurs at any age. It can affect one site, such as a single skull bone, or many organs. Treatment ranges from observation to chemotherapy and targeted drugs.
Also called: LCH, histiocytosis X, eosinophilic granuloma, Hand-Schüller-Christian disease, Letterer-Siwe disease
At a glance
- What it is
- A rare clonal disorder of immune (dendritic) cells forming destructive lesions in tissues.
- Who gets it
- Mostly children aged 1 to 3, but also adults. Adult lung LCH is strongly linked to smoking.
- Common sites
- Bones (especially the skull), skin, pituitary gland, lymph nodes, lungs, liver, spleen and bone marrow.
- Diagnosis
- Biopsy showing CD1a and CD207 (langerin) positive cells, plus staging scans.
- Treatment
- Observation, curettage or local steroid for single lesions. Chemotherapy or BRAF and MEK inhibitors for multisystem disease.
When to get help
Call 911 or go to the ER
- A child with LCH who has fever, is pale and lethargic, or has bleeding or bruising (possible bone marrow involvement)
- Sudden chest pain and breathlessness (possible collapsed lung in lung LCH)
See a doctor within a day or two
- A painful, swelling lump on the skull, or bone pain that wakes a child at night
- A baby with a persistent scaly or crusted rash in the diaper area or scalp, with fever or enlarged liver or spleen
- Excessive thirst and urination (possible diabetes insipidus)
- Persistent ear discharge not responding to treatment
Book a routine appointment
- Rash that looks like cradle cap or diaper rash but does not respond to usual treatment
- Breathlessness or cough in an adult smoker with cysts on a chest scan
- Long-term follow-up after LCH treatment
What causes LCH
LCH cells come from the bone marrow and share features with Langerhans cells of the skin. In many patients, they carry a mutation in the MAPK signaling pathway, most often BRAF V600E, that drives uncontrolled growth. This finding led to LCH being reclassified as a neoplasm and opened the door to targeted treatment. LCH is not contagious and is usually not inherited.
In adults, pulmonary LCH is closely linked to cigarette smoking.
Types by extent
| Category | Description |
|---|---|
| Single-system, unifocal | One lesion, often in one bone |
| Single-system, multifocal | Several lesions in one system, such as several bones |
| Multisystem, low risk | Two or more systems, without liver, spleen or bone marrow involvement |
| Multisystem, high risk | Involving liver, spleen or bone marrow ("risk organs") |
| Pulmonary LCH | Isolated lung disease, usually in adult smokers |
The older names eosinophilic granuloma, Hand-Schüller-Christian disease and Letterer-Siwe disease described different patterns, and are now grouped under LCH.
Symptoms
Bone (most common)
- bone pain and swelling, often on the skull, also spine, ribs, pelvis and long bones
- fractures from weakened bone
- bulging eye if bones around the eye are involved
- loose teeth from jaw involvement
Skin
- a scaly, crusted, reddish-brown rash on the scalp, behind the ears, in the diaper area and skin folds, often mistaken for seborrheic dermatitis or diaper rash
- small purple or brown spots in babies
Pituitary and brain
- diabetes insipidus: excessive thirst and urination
- growth hormone deficiency and other hormone problems
- rarely, late neurodegenerative changes with balance and learning difficulties
Other sites
- ears: chronic ear discharge and hearing loss
- lymph nodes: swelling
- lungs: cough, breathlessness, cysts and collapsed lung
- liver and spleen: enlargement, jaundice
- bone marrow: anemia, low platelets, infections
Diagnosis
- biopsy of a lesion: LCH cells stain positive for CD1a and CD207 (langerin). Testing for BRAF V600E and other mutations
- staging: blood count, liver function, urine concentration tests, skeletal survey or PET-CT, chest imaging, and MRI of the brain and pituitary if indicated
- lung function tests and high-resolution CT for lung disease
Treatment
Treatment follows Histiocyte Society guidance and depends on extent.
Single lesions
- observation, since some lesions heal spontaneously
- curettage (scraping out) during biopsy
- steroid injection into the lesion
- topical treatments for limited skin disease
- radiotherapy rarely, in adults
Multisystem or risk-site disease
- chemotherapy: commonly vinblastine with prednisone for 12 months in children. Cytarabine and other agents are used in adults and relapsed disease
- targeted therapy: BRAF inhibitors (such as dabrafenib or vemurafenib) or MEK inhibitors (trametinib, cobimetinib) for refractory, high-risk or neurodegenerative disease
- hormone replacement for diabetes insipidus and other pituitary deficiencies
Pulmonary LCH
Stopping smoking is the most important step and can lead to stabilization or improvement.
Outlook
Outcomes vary. Single-system disease has an excellent survival rate, though recurrence occurs. Multisystem disease with risk-organ involvement is more serious, but survival has improved substantially with modern treatment. Long-term effects can include diabetes insipidus, hearing loss, orthopedic problems and neurocognitive issues, so follow-up continues for years.
Frequently asked questions
What is Langerhans cell histiocytosis?
LCH is a rare disorder in which abnormal immune cells build up in tissues such as bone, skin, lungs and the pituitary gland, forming lesions that cause damage. It is now classified as a type of myeloid neoplasm.
Is Langerhans cell histiocytosis a cancer?
LCH is now considered a neoplasm because the cells carry mutations such as BRAF V600E that drive growth. It is treated by cancer specialists, often with chemotherapy. Its behavior ranges from self-healing single lesions to serious multisystem disease.
What are the symptoms of LCH in children?
Common symptoms are painful swelling of a skull or other bone, a scaly rash on the scalp or diaper area that does not respond to usual treatment, ear discharge, excessive thirst and urination, and, in severe cases, fever, enlarged liver or spleen and low blood counts.
How is LCH treated?
Single lesions may be observed, scraped out or injected with steroids. Multisystem disease is treated with chemotherapy, often vinblastine and prednisone, or targeted drugs such as BRAF and MEK inhibitors. Adult lung LCH requires stopping smoking.
Can LCH come back?
Yes. LCH can recur, particularly in multisystem disease, often within the first few years. Regular follow-up with blood tests and imaging helps detect recurrence early.
Sources
This guide was written from current patient and clinical guidance, including:
- Histiocyte Society: LCH evaluation and treatment guidelines
- National Cancer Institute: Langerhans cell histiocytosis treatment (PDQ)
- National Organization for Rare Disorders (NORD): Langerhans cell histiocytosis
- Histiocytosis Association: About LCH
- MedlinePlus: Histiocytosis