Resumen
Definición
Anamnesis y examen
Principales factores de diagnóstico
- age <15 years
- bone pain and/or swelling
- skin rash
- polyuria and polydipsia
- growth or sexual maturation failure
- vertebra plana
- hepatosplenomegaly
Otros factores de diagnóstico
- 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
Factores de riesgo
- smoking
- family history of thyroid disease
- perinatal infections
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- 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
Pruebas diagnósticas que deben considerarse
- 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
Algoritmo de tratamiento
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
Colaboradores
Autores
Gaurav Goyal, MD
Assistant Professor of Medicine
University of Alabama at Birmingham
Department of Medicine
Division of Hematology/Oncology
Birmingham
AL
Divulgaciones
GG has been reimbursed for advisory board by Opna Bio LLC, and receives royalties from UpToDate.
Agradecimientos
Dr Gaurav Goyal would like to gratefully acknowledge Dr Oussama Abla and Professor Kimo Stine, previous contributors to this topic.
Divulgaciones
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.
Revisores por pares
R. Maarten Egeler, MD, PhD
Director of Pediatric Immunology, Hematology, Oncology, Bone Marrow Transplantation, and Autoimmune Diseases
Leiden University Medical Center
Leiden
The Netherlands
Divulgaciones
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
Divulgaciones
RJ declares that she has no competing interests.
Referencias
Artículos principales
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 Resumen
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 Resumen
Rodriguez-Galindo C, Allen CE. Langerhans cell histiocytosis. Blood. 2020 Apr 16;135(16):1319-31.Texto completo Resumen
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: histiocytic neoplasms [internet publication].Texto completo
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
Diferenciales
- Seborrheic dermatitis
- Juvenile xanthogranuloma (JXG)
- Rosai-Dorfman disease (RDD)
Más DiferencialesGuías de práctica clínica
- Clinical practice guidelines in oncology: histiocytic neoplasms
- International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults
Más Guías de práctica clínica
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