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, dyspnea
- chest pain
- orbital abnormalities
- jaundice
- ascites
- cytopenias
- fever
- anorexia
- weight loss
- irritability
- ear pain
- ear discharge
- hearing loss
- perforated tympanic membrane
- headache
- neurologic signs
- bloody diarrhea
- oral mucosa lesions
- lymphadenopathy
- thyroid enlargement
Risk factors
- smoking
- family history of thyroid disease
- perinatal infections
Diagnostic investigations
1st investigations to order
- CBC
- 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
multisystem 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 receives funding from the University of Alabama at Birmingham for research in histiocytosis, and honoraria from UpToDate for authorship and peer review. GG is an author of a number of references cited in this topic.
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 nonprofit 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.
Differentials
- Seborrheic dermatitis
- Juvenile xanthogranuloma (JXG)
- Rosai-Dorfman disease (RDD)
More DifferentialsGuidelines
- NCCN clinical practice guidelines in oncology: histiocytic neoplasms
- International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults
More Guidelines
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