Langerhans cell histiocytosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
C96.0 C96.5 C96.6
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
LCH; Histiocytosis X
Endocrine Diseases; Hereditary Cancer Syndromes
- Hashimoto-Pritzker disease, a
- Letterer-Siwe disease, a severe, acute and disseminate form
- Hand-Schüller-Christian disease, an intermediate chronic form with multiple lesions characterized by diabetes insipidus, bulging of the eye and localized lesions in the bone
- Eosinophilic granuloma, a less severe form, characterized by solitary or few, and chronic lesions of bone or other
Below are the organs that may be affected as well as the symptoms that might be observed:
- Skin Red, scaly papules in areas where opposing skin surfaces touch or rub (e.g. skin folds) are commonly seen in LCH. Infants with the skin presentation on the scalp are often misdiagnosed with cradle cap. The skin symptoms usually improve without treatment.
- Bone Lesions that cause bone destruction are common, with the skull, lower limbs, ribs, pelvis, and vertebrae usually being affected. Symptoms may include pain, swelling, limited motion, and inability to bear weight.
- Lymph node Lymph node involvement may be limited or associated with a skin or bone lesion or disseminated disease. Although any of the lymph nodes may be affected, the cervical lymph nodes are where the disease commonly occurs. Individuals usually only present with pain of the lymph node affected. If only one lymph node is affected,
prognosisis normally good and treatment is unnecessary.
- Liver Liver involvement at the time of diagnosis is generally associated with more severe disease. Symptoms may include ascites,
jaundice, low levels of protein, and prolonged clotting time.
- Central nervous system (CNS) and hormone CNS involvement is rare and may be devastating. The most common result of CNS involvement is the altering of hormonal function, with some individuals developing diabetes insipidus.
In adults with LCH, the lung is the most frequently involved organ system, and solitary lung lesions may be the only symptom. Chronic cough, dyspnea (breathing difficulty) dyspnea), chest pain, and recurrent pneumothorax (abnormal presence of air in the pleural space between the lung and the chest wall) are the usual signs and symptoms of lung disease.
The BRAF gene provides instructions for making a
The protein produced by the BRAF gene is part of a signaling pathway known as the RAS/MAPK pathway, which controls several important cell functions. Specifically, the RAS/MAPK pathway regulates the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (migration), and the self-destruction of cells (
The BRAF gene belongs to a class of genes known as
Family members of LCH patients have a higher incidence of thyroid disease. Smoking is strongly associated with lung LCH.
No consensus exists for the best therapy for LCH, especially when multiple
Generally, the choice of treatment is based on disease severity. The International LCH Study of the Histiocyte Society proposes classifying LCH cases by the number of systems involved and by the number of sites within that system (e.g., involving one or more bones, involving one or multiple
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
A large range of alternative diagnoses may be considered, depending on the associated clinical picture and radiological findings.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Langerhans cell histiocytosis. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Langerhans cell histiocytosis. Click on the link to view a sample search on this topic.
- Satter EK, High WA. Langerhans Cell Histiocytosis: A Review of the Current Recommendations of the Histiocyte Society. Pediatric Dermatology (2008) Vol. 25 No. 3 291-295.
- The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
- LCH in Children. Histiocytosis Association of America. https://www.histio.org/page.aspx?pid=379.
- Langerhans Cell Histiocytosis Treatment (PDQ®)–Health Professional Version. National Cancer Institute. November 30, 2016; https://www.cancer.gov/types/langerhans/hp/langerhans-treatment-pdq.
- Shea CR, Boos MD. Langerhans Cell Histiocytosis. Medscape. February 8, 2016; https://emedicine.medscape.com/article/1100579-overview.
- Grifo AH. Langerhans Cell Histiocytosis in Children. Association of Pediatric Hematology/Oncology Nurses.
- Shea CR. Langerhans Cell Histiocytosis. Medscape Reference. March 7, 2017; https://emedicine.medscape.com/article/1100579-overview.
- LCH in Children. Histiocytosis Association of America. 2007; https://www.histio.org/site/c.kiKTL4PQLvF/b.1764433/k.8BCD/LCH_in_Children.htm. Accessed 2/18/2010.
- Langerhans cell histiocytosis. Genetics Home Reference. 2017; https://ghr.nlm.nih.gov/condition/langerhans-cell-histiocytosis#genes.
- BRAF gene. Genetics Home Reference. 2017; https://ghr.nlm.nih.gov/gene/BRAF.
- Langerhans Cell Histiocytosis. Online Mendelian Inheritance in Man (OMIM). 2009; https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604856. Accessed 2/18/2010.
- Arico M, Nichols K, Whitlock JA, Arceci R, Haupt R, Mittler U, Kuhne T, Lombardi A, Ishii E, Egeler RM, Danesino C. Br J Haematol. 1999; https://www.ncbi.nlm.nih.gov/pubmed/10606898?dopt=Abstract. Accessed 2/18/2010.
- Satter EK, High WA. Langerhans Cell Histiocytosis: A Review of the Current Recommendations of the Histiocyte Society. Pediatric Dermatology. 2008;