Summary
Definition
History and exam
Key diagnostic factors
- idade <15 anos
- dor óssea e/ou inchaço
- erupção cutânea
- poliúria e polidipsia
- insuficiência de crescimento ou de maturação sexual
- vértebra plana
- hepatoesplenomegalia
Other diagnostic factors
- tosse, dispneia
- dor torácica
- anormalidades orbitais
- icterícia
- ascite
- citopenias
- febre
- anorexia
- perda de peso
- irritabilidade
- dor de ouvido
- otorreia
- perda auditiva
- membrana timpânica perfurada
- cefaleia
- sinais neurológicos
- diarreia hemorrágica
- lesões da mucosa oral
- linfadenopatia
- aumento da tireoide
Risk factors
- tabagismo
- história familiar de doença tireoidiana
- infecções perinatais
Diagnostic investigations
1st investigations to order
- Hemograma completo
- TFHs
- albumina sérica
- função renal
- eletrólitos séricos
- cálcio sérico
- marcadores inflamatórios
- avaliação endócrina (adultos)
- Análise da mutação BRAF V600E
- radiografia de esqueleto (crianças)
- radiografia torácica (crianças)
- ultrassonografia abdominal (crianças)
- tomografia por emissão de pósitrons com fluordesoxiglucose (FDG-PET) (adultos)
- RNM da cabeça com contraste (adultos)
- biópsia tecidual
Investigations to consider
- avaliação endócrina (crianças)
- estudos de coagulação (crianças)
- testes de função pulmonar
- ecocardiograma
- tomografia computadorizada (TC) de alta resolução do tórax
- audiometria
- aspirado e biópsia de medula óssea
- RNM da cabeça com contraste (crianças)
- RNM da coluna vertebral
- tomografia computadorizada (TC) do crânio
Treatment algorithm
doença de sistema único: comprometimento ósseo
doença de sistema único: comprometimento da pele
doença de sistema único: comprometimento dos linfonodos isolado
doença de sistema único: comprometimento do pulmão
doença de sistema único: comprometimento do SNC
doença de sistema único: doença neurodegenerativa
doença multissistêmica
doença recidivante/refratária
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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
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
- Dermatite seborreica
- Xantogranuloma juvenil (XGJ)
- Doença de Rosai-Dorfman (DRD)
More DifferentialsGuidelines
- 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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