Summary
Definition
History and exam
Key diagnostic factors
- age <15 years
- bone pain and/or swelling
- skin rash
- polyuria and polydipsia
- growth or sexual maturation failure
- vertebra plana
- hepatosplenomegaly
Other diagnostic factors
- cough, dyspnoea
- chest pain
- orbital abnormalities
- jaundice
- ascites
- cytopenias
- fever
- anorexia
- weight loss
- irritability
- ear pain
- ear discharge
- hearing loss
- perforated tympanic membrane
- headache
- neurological signs
- bloody diarrhoea
- oral mucosa lesions
- lymphadenopathy
- thyroid enlargement
Risk factors
- smoking
- family history of thyroid disease
- perinatal infections
Diagnostic investigations
1st investigations to order
- FBC
- LFTs
- serum albumin
- renal function
- serum electrolytes
- serum calcium
- inflammatory markers
- endocrine evaluation (adults)
- BRAF V600E mutation analysis
- skeletal survey (children)
- chest x-ray (children)
- abdominal ultrasound (children)
- fluorodeoxyglucose positron emission tomography (FDG-PET) (adults)
- MRI head with contrast (adults)
- tissue biopsy
Investigations to consider
- endocrine evaluation (children)
- coagulation studies (children)
- pulmonary function tests
- echocardiogram
- high-resolution CT chest
- audiometry
- bone marrow aspirate and biopsy
- MRI head with contrast (children)
- MRI spine
- CT head
Treatment algorithm
single-system disease: bone involvement
single-system disease: skin involvement
single-system disease: isolated lymph node involvement
single-system disease: lung involvement
single-system disease: CNS involvement
single-system disease: neurodegenerative disease
multi-system disease
relapsed/refractory disease
Contributors
Authors
Gaurav Goyal, MD
Assistant Professor of Medicine
University of Alabama at Birmingham
Department of Medicine
Division of Hematology/Oncology
Birmingham
AL
Disclosures
GG has been reimbursed for advisory board by Opna Bio LLC, and receives royalties from UpToDate.
Acknowledgements
Dr Gaurav Goyal would like to gratefully acknowledge Dr Oussama Abla and Professor Kimo Stine, previous contributors to this topic.
Disclosures
OA declares that he has no competing interests. KS declares that he serves on the Board of the Histiocytosis Association (a non-profit organization), has provided advice for a legal firm reviewing a case of LCH, and receives honoraria for membership of advisory boards to Pfizer and Behring.
Peer reviewers
R. Maarten Egeler, MD, PhD
Director of Pediatric Immunology, Hematology, Oncology, Bone Marrow Transplantation, and Autoimmune Diseases
Leiden University Medical Center
Leiden
The Netherlands
Disclosures
RME has previously worked with Dr Abla on a review of LCH. RME is an author of several references cited in this topic.
Rima Jubran, MD, MPH
Assistant Professor of Pediatrics
Keck School of Medicine
University of Southern California
Children's Hospital Los Angeles
Los Angeles
CA
Disclosures
RJ declares that she has no competing interests.
References
Key articles
Haupt R, Minkov M, Astigarraga I, et al; Euro Histio Network. Langerhans cell histiocytosis (LCH): guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years. Pediatr Blood Cancer. 2013 Feb;60(2):175-84.Full text Abstract
Goyal G, Tazi A, Go RS, et al. International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults. Blood. 2022 Apr 28;139(17):2601-21.Full text Abstract
Rodriguez-Galindo C, Allen CE. Langerhans cell histiocytosis. Blood. 2020 Apr 16;135(16):1319-31.Full text Abstract
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: histiocytic neoplasms [internet publication].Full text
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Seborrhoeic dermatitis
- Juvenile xanthogranuloma (JXG)
- Rosai-Dorfman disease (RDD)
More DifferentialsGuidelines
- Clinical practice guidelines in oncology: histiocytic neoplasms
- International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults
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