Last reviewed: November 2017
Last updated: October  2017

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
  • FHx 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

Oussama Abla

Associate Professor of Pediatrics

University of Toronto

Pediatric Oncologist

The Hospital for Sick Children

Ontario

Canada

Chair of the Rare Histiocytoses Committee

Histiocyte Society

Pitman

NJ

Disclosures

OA declares that he has no competing interests.

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 monograph.

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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