Last reviewed: June 2019
Last updated: February  2019

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
  • coagulation studies
  • renal function
  • serum electrolytes
  • bone x-ray (skull series)
  • skeletal survey
  • chest x-ray
  • abdominal ultrasound
  • tissue biopsy
Full details

Investigations to consider

  • urine osmolality
  • full pituitary hormone evaluation
  • pulmonary function tests
  • audiometry
  • bone marrow aspirate and biopsy
  • high-resolution CT chest
  • CT abdomen
  • CT head
  • MRI brain (with contrast)
  • radionuclide bone scan (technetium-99)
Full details

Emerging tests

  • fluorodeoxyglucose positron emission tomography (FDG-PET)
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Professor of Pediatrics

University of Arkansas for Medical Sciences

Arkansas Children’s Hospital

Little Rock

AR

Disclosures

KS declares that he serves on the Board of the Histiocytosis Association (a non-profit organisation). He has provided advice for a legal firm reviewing a case of LCH. He receives honoraria for membership of advisory boards to Pfizer and Behring.

Professor Kimo Stine would like to gratefully acknowledge Dr Oussama Abla, a previous contributor to this topic.

Peer reviewers VIEW ALL

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.

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.

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