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Langerhans cell histiocytosis

Last reviewed: 9 Apr 2025
Last updated: 04 Mar 2025

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
Full details

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
Full details

Risk factors

  • smoking
  • family history of thyroid disease
  • perinatal infections
Full details

Diagnostic tests

1st tests 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
Full details

Tests 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
Full details

Treatment algorithm

ACUTE

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

ONGOING

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 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

Declarações

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

Declarações

RJ declares that she has no competing interests.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

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.Texto completo  Resumo

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.Texto completo  Resumo

Rodriguez-Galindo C, Allen CE. Langerhans cell histiocytosis. Blood. 2020 Apr 16;135(16):1319-31.Texto completo  Resumo

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: histiocytic neoplasms [internet publication].Texto completo

Artigos de referência

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  • Diretrizes

    • Clinical practice guidelines in oncology: histiocytic neoplasms
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