A histiocitose de células de Langerhans (HCL) é uma doença sistêmica associada à proliferação e acúmulo (geralmente em granulomas) de células de Langerhans em vários tecidos.
Introdução
O que você precisa saber de cara
A histiocitose de células de Langerhans (HCL) é uma doença sistêmica associada à proliferação e acúmulo (geralmente em granulomas) de células de Langerhans em vários tecidos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 40 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Unknown.
Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of
Cytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, microtubule organizing center, spindle pole bodyCytoplasmNucleusMembrane
Cardiofaciocutaneous syndrome 3
A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures.
Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosphorylates PFKFB2 (PubMed:36402789). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179)
NucleusCytoplasmCell membrane
Ras proteins bind GDP/GTP and possess intrinsic GTPase activity
Cell membraneGolgi apparatus membrane
Leukemia, juvenile myelomonocytic
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Variantes genéticas (ClinVar)
593 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
51 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Histiocitose de células de Langerhans
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
19 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
86 ensaios clínicos encontrados, 36 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.983
Prospective Collaborative Study for Pulse Dexamethasone and Lenalidomide in Relapsed/Refractory Langerhans Cell Histiocytosis (LENDEX-LCH Study): INPHOG-HIST-19-03 (CTRI/2020/07/026937).
The Indian Paediatric Haematology Oncology Group (INPHOG) multicentre study aimed to prospectively analyse the efficacy and safety of lenalidomide and dexamethasone (LENDEX) in children with refractory/relapsed Langerhans cell histiocytosis (LCH). The study was a prospective, multicentre study conducted through the INPHOG Histiocytosis Subcommittee. The Clinical Trials Registry of India registration was obtained, and the study was open to recruitment from June 2020 to June 2023. A total of 15 children were included from seven centres in India, median age being 4 years (Range 3-13 years). Thirteen children were diagnosed to have multisystem disease at relapse with involvement of skin, bone and liver; and one child each with multifocal bone disease and single site bone lesion. One child with refractory lung disease had progression after two cycles of LENDEX and was taken off protocol. Four (26%) children achieved CR after six cycles of LENDEX; while eight (53%) children had PR at three and six cycles, with CR at the end of nine cycles of LENDEX. The combination was well tolerated, the most common adverse effects being mild anaemia and myalgia. There were no deaths within the cohort, with a median follow-up of 24 months (Range 18-48 months). The overall response rate was 73%, with 26% responses at six cycles and 53% at nine cycles of LENDEX. LENDEX is well tolerated and effective in 73% children with relapsed/refractory LCH. Future studies would include nine cycles of LENDEX followed by maintenance for 12 months with 6-mercaptopurine.
Trametinib Monotherapy in the Treatment of Pediatric Refractory/Relapse Langerhans Cell Histiocytosis.
Standardized salvage treatments for refractory/relapse Langerhans cell histiocytosis (LCH) remain to be established. Trametinib (TRA) has shown marked efficacy in LCH, but cohort studies regarding efficacy and safety of TRA monotherapy in refractory/relapse LCH were scarce. We retrospectively analyzed 22 patients with refractory/relapse LCH treated with TRA monotherapy. Patients were treated for a median of 21.4 months (3.0-51.6 months). Nineteen (86.4%) of 22 of patients remained progression-free during TRA treatment. Sixteen patients stopped TRA (not due to progression or toxicity), of which 10 remained progression free, with median follow-up time of 28.7 months (1.5-44.6 months) after TRA withdrawal, and 6 patients experienced relapse, with median time to relapse from post-TRA withdrawal of 3.7 months (2.7-16.5 months). Two patients continued on TRA at last follow-up and one switched to chemotherapy due to toxicity. Three-year event-free survival was 50.7% (95% CI: 27.7-69.8), with a median follow-up time of 36.4 months (3.0-67.6 months). From TRA initiation to 12 months of treatment, cell-free BRAF/MAP2K1 mutation status in blood presented as negative to negative or positive to negative was correlated with superior event-free survival rate (EFS) rate. Toxicity was tolerable, and adverse events were predominantly skin rash (77.3%), paronychia (22.7%), and diarrhea (13.6%). Overall, TRA was effective and safe in the treatment of patients with refractory/relapse LCH, offering a convenient therapeutic alternative.
Isolated Intracranial Rosai-Dorfman Disease Mimicking Sellar Pituitary Adenoma: a case report and literature review.
Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy (SHML), is an extremely rare non-Langerhans cell histiocytosis. The diagnostic histiocytes in RDD are characterized by the immunophenotypic markers S100 (+), CD68 (+), and CD1a (-) (Abla O, Blood 131: 2877, 2018),(Emile JF, Blood 127: 2672, 2016) , and exhibit phagocytosis with varying frequency. To our knowledge, this is the first reported case of isolated Intracranial Rosai-Dorfman Disease Mimicking Sellar Pituitary Adenoma, with peripheral facial paralysis as the initial presentation. By integrating imaging findings, histopathological features, and treatment response, we explore the diagnostic challenges and management strategies, aiming to enhance clinicians' awareness of RDD involving the pituitary. We report the case of a 50-year-old Han Chinese female who presented with left-side peripheral facial paralysis and tender enlargement of the left cervical lymph nodes. Pituitary MRI revealed an intrasellar mass with homogeneous enhancement, initially diagnosed as a pituitary adenoma. The patient underwent transnasal transsphenoidal endoscopic resection of the pituitary adenoma. But histopathology and immunohistochemistry (S100+, CD68+, CD1a-) confirmed the diagnosis of RDD. Postoperatively, the facial paralysis improved, Unfortunately, 6 months follow-up MRI showed tumor recurrence. The clinical manifestations of intrasellar RDD are insidious and lack specificity, making it easy to confuse with common pituitary space-occupying lesions. Currently, surgical resection remains the gold standard for definitive diagnosis and is the primary therapeutic intervention, long-term follow-up is crucial for monitoring recurrence.
Behavioral and emotional problems and quality of life in Chinese children with Langerhans cell histiocytosis.
This study intended to explore behavioral and emotional problems and quality of life, as well as their related factors in Chinese children with Langerhans cell histiocytosis (LCH). This was a cross-sectional study. Subjects were included from April 2023 to September 2023. Child behavior checklist (CBCL), pediatric quality of life inventory™ version 4.0 (PedsQLTM4.0), and version 3.0 (PedsQLTM3.0) Cancer Module were used to assess behavioral and emotional problems and quality of life. A total of 120 children with LCH were included. Twenty-six (21.7%) children had behavioral and emotional problems. Age at diagnosis ≥ 4 years [odds ratio (OR) = 0.344, P = 0.022] and major caregiver with an educational level of junior college and above (OR = 0.314, P = 0.035) were independently associated with a lower possibility of achieving CBCL total problem score ≥ 35. Electronic product usage time ≥ 2 h per day (B=-6.024, P = 0.011) and caesarean section (B=-6.006, P = 0.012) were independently related to a lower total PedsQLTM4.0 score, while age at diagnosis ≥ 4 years (B = 9.183, P = 0.004) showed an inverse trend. Second-line treatment was independently related to a lower total PedsQLTM3.0 Cancer Module score (B=-5.578, P = 0.021). In this study, 21.7% of Chinese children with LCH exhibit behavioral and emotional problems. Age at diagnosis < 4 years, major caregiver with an educational level of high school and below, electronic product usage time ≥ 2 h, caesarean section, and second-line treatment are related to behavioral and emotional problems and impaired quality of life in Chinese children with LCH. Not applicable.
Choriocarcinoma presenting with cystic lung metastasis mimicking diffuse cystic lung disease.
Choriocarcinoma is a highly aggressive malignant germ cell tumour containing syncytiotrophoblasts that secrete beta-human chorionic gonadotropin, and it has a poor prognosis, with a dismal 5-year survival rate of <5%. It generally affects young individuals. Cystic lesions in the lung are uncommon in malignancies that can predispose patients to spontaneous pneumothorax. Multiple cystic lesions are less commonly seen in metastatic disease. Diffuse cystic lung diseases (DCLD) are a group of diseases characterised by cysts in the bilateral lung fields that are not necessarily evenly distributed. The differential diagnosis is limited and typically includes lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis. Sometimes, metastatic malignancy can present as DCLD. Metastatic leiomyoma, endometrial stromal sarcoma and cellular fibrous histiocytic tumours have been reported as causes of lung cysts. We report a case of choriocarcinoma with cystic lung metastasis in a woman in her 30s.
Publicações recentes
B-Acute Lymphoblastic Leukemia Masquerading as Multifocal Langerhans Cell Histiocytosis: a Diagnostic Paradigm Shift.
Cutaneous Rosai-Dorfman Disease Misdiagnosed as Granulomatous Dermatitis: A Diagnostic Pitfall.
Age-Stratified Imaging Selection in Langerhans Cell Histiocytosis: Towards a Clinical Decision Framework.
Spontaneous regression of a presumed orbitocranial eosinophilic granuloma in an adult patient: illustrative case.
Immunohistochemistry-Based Screening for Targetable Kinase Alterations in Non-Langerhans Cell Histiocytosis with Juvenile Xanthogranuloma morphology.
📚 EuropePMC3.985 artigos no totalmostrando 196
Orbital Langerhans Cell Histiocytosis in Young Pediatric Patients: Two Case Reports and Literature Review.
Pediatric health, medicine and therapeuticsFrontotemporal-orbitozygomatic approach for pediatric cranio-orbital tumors: a single-center experience.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLiver Histiocytosis Masquerading as Hepatic Dysfunction: Rare Case Story.
Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)Case Report: A 69-year-old woman with dermatopathic lymphadenopathy and hypercalcemia after COVID-19 infection.
Frontiers in immunologyFacial Cutaneous Rosai-Dorfman Disease Misdiagnosed as Sporotrichosis: A Case Report and Literature Review.
Clinical, cosmetic and investigational dermatologyCase Report: Complete remission of refractory Langerhans cell sarcoma following CLAG-M chemotherapy and allogeneic hematopoietic stem cell transplant.
Frontiers in oncologyDiffuse red-brown papules in a toddler.
JAAD case reportsCutaneous-to-Bronchial Rosai-Dorfman Disease without Lymphadenopathy: A Rare Case Report and Literature Review.
Clinical, cosmetic and investigational dermatologyUse of cryobiopsy for diagnosis and treatment of a rare laryngeal tumor in pediatrics.
Archivos argentinos de pediatriaErdheim-Chester Disease: A Diagnostic Challenge.
CureusCase Report: A rare adult multisystem Langerhans cell histiocytosis involving the skin, thyroid, jaw-periodontal region, and bone: diagnostic challenges and complementary PET/CT-SPECT/CT findings.
Frontiers in oncologySuccessful Treatment of Histiocytic Sarcoma in Childhood.
CureusProspective Collaborative Study for Pulse Dexamethasone and Lenalidomide in Relapsed/Refractory Langerhans Cell Histiocytosis (LENDEX-LCH Study): INPHOG-HIST-19-03 (CTRI/2020/07/026937).
Pediatric blood & cancerThe utility of PU.1 immunohistochemical marker in differentiating granular cell tumor from oral histiocytic lesions.
Oral surgery, oral medicine, oral pathology and oral radiologyTrametinib Monotherapy in the Treatment of Pediatric Refractory/Relapse Langerhans Cell Histiocytosis.
Pediatric blood & cancerEvolving Pathological Stages of Severe Pulmonary Langerhans Cell Histiocytosis: Clinical Insights From a Case Involving an Infant.
Pediatric blood & cancer[Adult thoracic Langerhans cell histiocytosis:a case report].
Zhongguo gu shang = China journal of orthopaedics and traumatologyPrognostic factors and clinical outcomes in pediatric Langerhans Cell Histiocytosis: a retrospective cohort study on event-free survival.
Hematology (Amsterdam, Netherlands)Skin-limited Langerhans cell histiocytosis in an adult.
Dermatology reportsCutaneous Rosai-Dorfman disease: a case report of disease limited only to skin.
Dermatology reportsA refractory polyarthritis revealing a multicentric reticulohistiocytosis.
Modern rheumatology case reportsFine-Needle Aspiration as a Key Diagnostic Tool in Pediatric Rosai-Dorfman Disease: A Case Report of a 12-Year-Old Male.
International medical case reports journalIsolated Intracranial Rosai-Dorfman Disease Mimicking Sellar Pituitary Adenoma: a case report and literature review.
BMC neurologyWhat to do to beat Langerhans cell histiocytosis of bone? A narrative review and case series of radiofrequency ablation.
EFORT open reviewsPheochromocytoma With Langerhans Cell Histiocytosis: A Rare Tumor-in-Tumor Case.
Clinical case reportsClinicopathological features of gastric Langerhans cell histiocytosis and a literature review.
Journal of clinical and experimental hematopathology : JCEHBehavioral and emotional problems and quality of life in Chinese children with Langerhans cell histiocytosis.
BMC pediatricsOrigin, diagnosis and treatment of periocular Histiocytic disorders- state-of-the-art review.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieCD71 expression in Rosai-Dorfman disease: a useful adjunct marker in the differential diagnosis of histiocytic proliferations.
HistopathologyCystic lung diseases in the daily routine: a comprehensive step-wise algorithm for the radiological diagnosis of cystic lung lesions and diffuse cystic lung diseases.
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinChoriocarcinoma presenting with cystic lung metastasis mimicking diffuse cystic lung disease.
BMJ case reportsOtolaryngological Manifestations of Paediatric Langerhans Cell Histiocytosis: A Systematic Literature Review and Statewide Case Series.
The Journal of laryngology and otologyTufted hair folliculitis as an unusual cutaneous manifestation of systemic Langerhans cell histiocytosis.
Italian journal of dermatology and venereologyCervical vertebra plana secondary to Ewing sarcoma: A case report.
Radiology case reportsA Systematic Review of Erdheim-Chester Disease and IgG4-Related Disease: Building a Diagnostic Framework for the Rheumatologist.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseasesBlood MMP-7 and TNF-α levels as potential prognostic biomarkers for adult pulmonary Langerhans cell histiocytosis.
Scientific reportsCase Report: A concomitant case of eosinophilic granuloma of the spine and Fasciola hepatica infection of the liver in a young patient, and review of the literature.
Frontiers in surgeryMACOP-B in Adult Langerhans Cell Histiocytosis Confirms Durable Organ Responses at an Updated Long-Term Follow-Up.
American journal of hematologyPerioperative multidisciplinary rescue of a patient with Erdheim - Chester disease and multi-system involvement: a case report.
Frontiers in medicineIsolated gastrointestinal Langerhans cell histiocytosis in a 16-month-old child: A case report.
JPGN reportsManagement of a Pediatric Patient With Langerhans Cell Histiocytosis Using General Anesthesia.
CureusRecurrent vulvar ulcers led to the multidisciplinary management of a rare vulvar condition, Langerhans cell histiocytosis.
JAAD case reportsAlopecia as an atypical presentation of Langerhans cell histiocytosis in an adult male.
JAAD case reportsRed-brown and purpuric eroded papules and patches in the intertriginous regions.
JAAD case reportsLong-term MAPK inhibition of childhood refractory-Langerhans cell histiocytosis: an observational study on 288 patients.
Blood advances[Guideline for the diagnosis and treatment of Langerhans cell histiocytosis in children (2026)].
Zhonghua er ke za zhi = Chinese journal of pediatricsA Case of Multisystem Langerhans Cell Histiocytosis with Palmar Hyperkeratosis and Purpuric Nail Bands as the Initial Presentation: New Insights into An Old Disease.
Indian dermatology online journal[Special aspects of magnetic resonance imaging of pediatric bone marrow].
Radiologie (Heidelberg, Germany)An Adult Case of Chest Wall Langerhans Cell Histiocytosis Mimicking Malignancy and Responding to Targeted Therapy.
CureusNeurodegeneration in Langerhans Cell Histiocytosis: beyond a Sequela.
Anales de pediatriaIncidental Diagnosis of Erdheim-Chester Disease in a 42-Year-Old Man With Persistent Elevated ESR and Peri-Ocular Xanthomas: A Case Report.
Clinical case reportsUncommon presentation of hepatic Langerhans cell histiocytosis in a young adult: a diagnostic challenge.
BMJ case reportsPredictive value of metabolic parameters from PET/CT in adult multifocal Langerhans cell histiocytosis.
Annals of nuclear medicineSotatercept in Pulmonary Langerhans Cell Histiocytosis-Associated Pulmonary Hypertension: A Case Series and Systematic Review.
Pulmonary circulationEfficacy and safety of cladribine in adult pulmonary langerhans cell histiocytosis: a phase II study.
The European respiratory journalErdheim-Chester disease presenting with multisystem involvement: A case report.
World journal of clinical casesAsymmetric adult-onset asthma with periocular xanthogranuloma (AAPOX) associated with IgG4-related disease: a case report.
Frontiers in surgeryCorrigendum to "Langerhans cell histiocytosis of the spine in adults: A rare and controversial disorder: A systematic review" [Clin. Neurol. Neurosurg. 255 (2025) 108991].
Clinical neurology and neurosurgeryNon-Traumatic Clavicular Lesions in Children: Case Series and Literature Review.
Children (Basel, Switzerland)Langerhans Cell Histiocytosis Presenting With Diabetes Insipidus in a 2 Years Old Child: A Case Report.
Clinical case reportsDescriptive analysis of primary intermediate and benign spine tumors: A retrospective study using the Bone and Soft Tissue Tumor Registry in Japan.
Journal of orthopaedic science : official journal of the Japanese Orthopaedic AssociationDelayed Neurologic Response to Dabrafenib and Trametinib in the Case of Mixed Histiocytosis (LCH/ECD): Case Report and Literature Review.
Reports (MDPI)Hearing loss in Langerhans cell histiocytosis: close association with central nervous system consequences.
International journal of hematologyPaediatric Langerhans Cell Histiocytosis: A 20-Year Single-Centre Retrospective Study of 35 Cases.
CureusA case of Langerhans cell histiocytosis localized in the temporal bone, which presented as sudden sensorineural hearing loss: A case report and review of the literature.
SAGE open medical case reportsSurvival outcomes and adverse prognostic factors of Langerhans cell histiocytosis: a 40-year experience from a single tertiary center in Thailand.
Annals of hematologyAdult-onset intratracheal xanthogranuloma presented with uncontrolled asthma.
BMJ case reportsPrimary pulmonary Langerhans cell histiocytosis: comprehensive clinicopathologic and molecular genetic analysis of 13 cases.
Human pathology[Histiocytosis X discovered after chemotherapy treatment for mesothelioma].
Revue medicale de LiegeCurrent Approaches and Therapeutic Strategies for Hypothalamic Syndrome in Patients with Childhood-onset Craniopharyngioma.
Journal of clinical research in pediatric endocrinologyRadiologic Approach to Cystic Lung Diseases: From Cyst Definition to Diagnosis.
Seminars in roentgenologyPrognostic factor analysis of oral and maxillofacial Langerhans cell histiocytosis based on clinical findings and tumour microenvironment.
BMC oral healthInterstitial Lung Diseases Presenting as Small Nodules: Imaging Phenotypes.
Seminars in roentgenology[Clinical Efficacy Analysis of 38 Pediatric Cases of Recurrent and Refractory Langerhans Cell Histiocytosis].
Zhongguo shi yan xue ye xue za zhiNanoparticle-enhanced cytology: a 2025 breakthrough for rapid diagnosis of Erdheim-Chester disease.
Annals of medicine and surgery (2012)The use of MEK inhibitors in pediatric patients presenting with respiratory distress and laryngeal Rosai-Dorfman Disease: Two case reports.
International journal of pediatric otorhinolaryngology[Etiological evaluation of pericardial effusion: A case report of adult ECD-LCH overlap syndrome].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesFrom a Long-Standing Yellowish Plaque to a Diagnosis of a Rare Disorder: A Case of Erdheim-Chester Disease Treated With Vemurafenib.
American journal of medical genetics. Part AOral-Onset Langerhans Cell Histiocytosis in a Noncompliant Adult: A Cautionary Case of Multisystem Progression.
Australian dental journalCytological Findings in Pediatric Thoracic Tumors: A Review of Diagnostic Insights and Pitfalls.
Acta cytologicaLangerhans cell histiocytosis manifesting at birth: a neonatal case with BRAF V600E mutation.
Diagnostic pathologyMultisystem Langerhans cell Histiocytosis presenting with spontaneous pneumothorax in a toddler: case report and literature review.
Oxford medical case reportsPostoperative Radiotherapy in Spinal Rosai-Dorfman Disease: A Case Report and Literature Review.
Case reports in oncologyStereotactic radiosurgery for intracranial Langerhans cell histiocytosis: A multi-institutional case series with long-term follow-up.
Brain & spineRepurposing osteoporosis medications for other diseases: a narrative review by the European Calcified Tissue Society (ECTS).
BoneRethinking "asthma" in adult-onset "asthma" with periocular xanthogranuloma.
JAAD case reportsHepatitis B Reactivation in Children During Chemotherapy for Hematologic Malignancies: Experience of 24 Cases Including Long-term Follow-up.
Journal of clinical and experimental hepatologyAt the crossroads of infection and malignancy: the challenge of tuberculosis in migrating populations - Case Report and Epidemiologic Analysis.
BMC infectious diseasesCombination Therapy With Dabrafenib and Trametinib for Langerhans Cell Histiocytosis-Associated Neurodegenerative Disease.
Pediatric blood & cancerCHOROIDAL INFILTRATION IN ERDHEIM-CHESTER DISEASE: A CASE SERIES.
Retinal cases & brief reportsTreating metastatic extraocular retinoblastoma complicated with Langerhans cell histiocytosis.
GMS ophthalmology casesCase Report: Systematic endoscopic characterization of synchronous esophageal, gastric, and colorectal involvement in multisystem Langerhans cell histiocytosis.
Frontiers in medicineP21 A rare case of eosinophilic pustular folliculitis presenting with pustules and bullae at birth.
The British journal of dermatologyA 26-year-old with persistent cough of unclear origin.
Breathe (Sheffield, England)Efficacy, safety, and relapse outcomes of MAPK inhibitors in pediatric Langerhans cell histiocytosis: A real-world study.
International journal of cancerAdult onset multisystem Langerhans cell histiocytosis initially presenting with arginine vasopressin deficiency: a case report.
Frontiers in medicineBilateral temporal skull xanthoma characterized as a Langerhans cell histiocytosis: a case report.
Journal of medical case reportsRosai-Dorfman Disease Involving Thymus and Aorta Revealed by 18 F-FDG PET/CT.
Clinical nuclear medicinePerianal Langerhans cell hyperplasia characterized by perianal ulcerative lesions after hemorrhoid surgery: A case report.
MedicineAn endocrinological point of view on a large series of pituitary stalk lesions.
Pituitary"Multifocal, intra-axial Langerhans cell histiocytosis presenting with central diabetes insipidus in teenage pregnancy: A case report".
Radiology case reportsJuvenile Xanthogranuloma: A Visual Clinical Diagnosis.
Cureus[Current Imaging Approaches for Pediatric Brain Tumors].
No shinkei geka. Neurological surgeryGastric Bloom: Flower-like Lesions of Isolated Gastrointestinal Langerhans Cell Histiocytosis.
ACG case reports journalBilateral maxillary and mandibular involvement of Langerhans cell histiocytosis: A rare case report.
Journal of Indian Society of PeriodontologyAdvances in the diagnosis and management of pediatric Langerhans cell histiocytosis and Rosai-Dorfman disease: therapies, biomarkers, and response assessment.
Hematology. American Society of Hematology. Education Program[Langerhans cell histiocytosis diagnosed in mediastinal lymph nodes by endoscopic ultrasound-guided fine-needle aspiration].
Anales del sistema sanitario de NavarramiRNAs in Erdheim-Chester Disease: A Paradigm of Multisystem Histiocytosis.
The journal of gene medicineThe Nutritional Impact of Childhood Cancer: Insights from a Feasibility Cohort Study.
Nutrition and cancerTumoral Stage of Mycosis Fungoides, Misdiagnosed With Wells Syndrome and Langerhans Cell Histiocytosis Histologically: A Challenging Case and Review of the Literature.
Cancer reports (Hoboken, N.J.)Thoracic eosinophilic granuloma in a 23-month-old child: a rare case and literature review.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyNeurodegenerative Langerhans cell histiocytosis: long-term follow-up of 63 patients from the Italian Registry.
HaematologicaCell-free BRAF-V600E levels predict progression-free survival in children with Langerhans cell histiocytosis treated with dabrafenib and maintenance chemotherapy.
HaematologicaHepatic Involvement as the Initial Manifestation of Adult Langerhans Cell Histiocytosis.
ACG case reports journalMixed Erdheim-Chester disease with thoraco-abdominal involvement.
Acta radiologica openPatient and Caregiver Perspectives on Clinical Care, Comprehensive Support, and Communication in Langerhans Cell Histiocytosis Management.
Pediatric blood & cancerSystemic Langerhans Cell Histiocytosis Revealed by Atypical Vulvar Lesions in a Child.
Journal of pediatric and adolescent gynecologySolitary Congenital Self-Healing Langerhans Cell Histiocytosis.
Journal of cutaneous medicine and surgeryChronic myelomonocytic leukaemia occurring in patients with pulmonary Langerhans cell histiocytosis: A common progenitor?
Respiratory medicine and researchClinicopathological features of hepatic Langerhans cell histiocytosis: report of ten cases and review of the literature.
Annals of diagnostic pathologyGastric Langerhans Cell Histiocytosis is Easily Ignored or Misdiagnosed in Stomach Biopsy and Indicates a Poor Outcome in Multisystem Langerhans Cell Histiocytosis.
International journal of surgical pathologyIncidental Renal Langerhans Cell Histiocytosis Within Clear Cell Renal Carcinoma: A Case Report and Literature Review.
Case reports in urology[Exploring Langerhans cell histiocytosis in childhood: case series].
Boletin medico del Hospital Infantil de MexicoSee it sooner: The role of point-of-care ultrasound in detecting malignant and invasive lesions presenting to the paediatric emergency department - A pictorial review.
Ultrasound (Leeds, England)Long-term follow-up of a case of Langerhans cell histiocytosis of the cervical spine with pulmonary involvement.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiLangerhans Cell Histiocytosis and Mastocytosis: A Rare Association.
Dermatology practical & conceptualIntra-arterial melphalan for treatment of neurologic histiocytic neoplasms.
Journal of the neurological sciencesReal-world outcomes in adult histiocytosis: the uncharted territory of orphan diseases.
Leukemia & lymphomaOral and Craniofacial Development and Immunology.
Advances in experimental medicine and biology[A case of diffuse cystic lung disease with severe pulmonary hypertension in a reproductive-aged female].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesErdheim-Chester Disease Mimicking a Malignant Pituitary Stalk Tumor With Ventricular Dissemination: A Case Report.
Brain tumor research and treatmentEfficacy and safety of dabrafenib-targeted therapy for pediatric langerhans cell histiocytosis: a systematic review and meta-analysis.
Translational pediatricsConcavities of the margins of focal bone lesions on MRI: a retrospective study of 586 cases.
Insights into imagingTonsillar langerhans cell sarcoma with gastrointestinal metastasis: a rare case report.
AME case reportsDistinct Presentations of Langerhans Cell Histiocytosis in Children: A Case Series.
Case reports in oncological medicineErdheim-Chester disease: A multisystem non-Langerhans cell histiocytosis with cutaneous involvement.
The journal of the Royal College of Physicians of EdinburghApplication of pretreatment 18F-FDG PET metabolic parameters in children with Langerhans cell histiocytosis.
Annals of hematologyRosai-Dorfman disease presenting without systemic symptoms in childhood.
BMJ case reportsMalignancy-associated Multicentric Reticulohistocytosis Mimicking Dermatomyositis-like Features, with a Significant Ultrasound Finding.
Internal medicine (Tokyo, Japan)Delayed diagnosis of pituitary LCH with BRAFV600E mutation: A case report and literature review.
MedicineHistiocyte Society blueprint for non-Langerhans cell histiocytosis research: unraveling complex diseases through collaboration.
HaematologicaHistiocyte Society blueprint for Langerhans cell histiocytosis research: from cell-of-origin to a more comprehensive cure.
HaematologicaPeripheral immune indicators and their predictive value in disease progression or relapse of pediatric Langerhans cell histiocytosis.
Jornal de pediatriaA retrospective diagnosis of trauma-related self-resolving hemorrhagic skull lesions of Langerhans cell histiocytosis in a child through cytopathologic re-evaluation of a prior post-traumatic parotid gland hematoma.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLangerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.
American journal of medical genetics. Part ABile Duct Targeting or Preservation: Contrasting Liver Histology in Langerhans Cell Histiocytosis and Disseminated Juvenile Xanthogranuloma.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyThe Impact of Hybrid Therapy on Langerhans Cell Histiocytosis of the Mandible in an Older Male: A Case Report and Literature Review.
Case reports in otolaryngologyRosai-Dorfman Disease of the Breast: Radiologic-Pathologic Correlation.
Journal of breast imagingTreatment of cutaneous Langerhans cell histiocytosis with ruxolitinib 1.5% cream.
JAAD case reportsCongenital self-healing Langerhans cell histiocytosis vs benign cephalic histiocytosis: A comprehensive literature review of pediatric cutaneous histiocytoses.
JAAD case reportsEffective vemurafenib monotherapy for refractory Langerhans cell histiocytosis with sustained results post-withdrawal for over two years: a case report.
Frontiers in oncologyBeyond Hepatitis: A Rare Case of Multisystem Langerhans Cell Histiocytosis in a Child.
Clinical case reportsRAF-independent MEK mutations drive refractory histiocytic neoplasms but respond to ERK inhibition.
Cancer cellEar Discharge and Destructive Postauricular Mass: An ENT Manifestation of Langerhans Cell Histiocytosis.
British journal of hospital medicine (London, England : 2005)Health-Related Quality of Life and Social Outcomes in Adolescents and Young Adult Survivors of Childhood Cancer: A Single-Center Case-Control Study from Crete, Greece.
Reports (MDPI)Sinus and palatal Rosai-Dorfman Disease: Case report and review of the literature.
American journal of otolaryngologyPrimary Langerhans Cell Histiocytosis Associated With Multiple Lymphoepithelial Cysts: A Challenging Case.
Pathology internationalThe etiological diagnosis of "Primary" hypophysitis requires prolonged follow-up: A case of Langerhans cell histiocytosis.
Annales d'endocrinologiePulmonary Langerhans Cell Histiocytosis.
Clinics in chest medicineTeaching NeuroImage: Isolated Hypothalamic Langerhans Cell Histiocytosis.
NeurologyNecrobiotic xanthogranuloma of larynx - an extremely rare case report.
Logopedics, phoniatrics, vocologySafety and feasibility of duct-to-duct biliary anastomosis in pediatric liver transplantation: A single-center retrospective study.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation SocietyErdheim-Chester Disease Masquerading as Leukemia: Outwitting the Need for Transplant.
CureusLangerhans cell histiocytosis presenting as aggressive periodontitis to a paediatric dentist.
BMJ case reportsSolitary eyelid xanthogranuloma in an immunocompetent young adult: diagnostic challenges and insights.
Orbit (Amsterdam, Netherlands)A Missed Case of Langerhans Cell Histiocytosis of the Proximal Femur after Total Hip Arthroplasty in an Adult: A Case Report.
Journal of orthopaedic case reportsPediatric nummular headache: review of the literature and a case series with nosographic considerations.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyAgminated, Eruptive Nevi in Patients With a History of Langerhans Cell Histiocytosis.
Pediatric dermatologySustained Response to Pan-BRAF Inhibitor Plixorafenib (FORE8394, PLX8394) in a Young Adult With Neurodegenerative Langerhans Cell Histiocytosis.
JCO precision oncologyLangerhans Cell Histiocytosis Successfully Treated with Combination of Thalidomide and Corticosteroid.
European journal of case reports in internal medicineCutaneous Rosai-Dorfman Disease After COVID-19 Vaccination: Rare Occurrence with Challenging Presentation.
Seminars in musculoskeletal radiologyLangerhans Cell Histiocytosis Mimicking Spinal Tuberculosis.
Mayo Clinic proceedingsCongenital solitary neck ulcer as a presentation of Langerhans cell histiocytosis.
Skin health and diseaseLuvometinib in patients with Langerhans cell histiocytosis, Erdheim-Chester disease, and other histiocytic neoplasms: a single-arm, multicentre, phase 2 study.
EClinicalMedicineLong-Standing Bilateral Adult-Onset Orbital Xanthogranuloma With Unique Histologic Findings Uncovering the Diagnosis of Sitosterolemia.
The American Journal of dermatopathologyBilateral Spontaneous Pneumothorax in a Young Gentleman.
Respirology case reportsJuvenile xanthogranuloma as a potential early manifestation of neurofibromatosis type 1: A case report.
Medicine[Langerhans Cell Histiocytosis in Children and Adults - An Interdisciplinary Diagnostic and Therapeutic Challenge].
Deutsche medizinische Wochenschrift (1946)Patients with langerhans cell histiocytosis and hypothalamic-pituitary involvement: insights from the HEROS study cohort.
PituitaryReactive Histiocytic Proliferation in Rheumatoid Arthritis Mimicking Erdheim-Chester Disease.
CureusClofarabine monotherapy in refractory multisystem LCH with gastrointestinal involvement.
Pediatric hematology and oncologyLow Bone Mass in Probable CD1a-negative Langerhans Cell Histiocytosis: A Diagnostic Challenge.
JCEM case reportsA rare case of Langerhans cell histiocytosis with unexplained endocrine dysfunction and extensive skeletal involvement in a Pediatric patient.
Oxford medical case reportsDiagnosis and treatment of Langerhans cell histiocytosis in adults.
Innovation (Cambridge (Mass.))A Case of Extra-nodal Rosai-Dorfman Disease.
CureusLangerhans cell histiocytosis with mesenteric involvement successfully treated with trametinib: a rare cause of small intestine obstruction.
International journal of hematologyLangerhans Cell Histiocytosis in the central nervous system, cranial and spinal bones: imaging features.
Expert review of clinical immunologyA clinical study incorporating multimodal 18F-FDG PET/CT metabolic parameters, genetic markers, and clinical characteristics for the evaluation and prediction of treatment efficacy and prognosis in Langerhans cell histiocytosis.
Frontiers in medicineUnderstanding cystic lung lesions in smokers with interstitial lung disease: radiologic-pathological correlation.
Insights into imagingRefractory multisystem Langerhans cell histiocytosis in an infant: use of vemurafenib as a therapeutic option.
Archivos argentinos de pediatriaPeriodontal Manifestations of Systemic Diseases.
Journal of periodontal researchUnraveling the diagnosis of rare genetic disorder - Langerhans cell histiocytosis.
Journal of Indian Society of PeriodontologyTransorbital Endoscopic Approach to the Orbital Apex Via the Superior Lid Crease: A Clinical Series.
Ophthalmic plastic and reconstructive surgery18F FDG PET/CT in a Rare Case of Erdheim-Chester Disease with Extensive Cutaneous and Skeletal Involvement.
Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaExpression and clinical correlation of cathepsin S, programmed cell death-1 ligand 1, and BRAFV600E mutation in children with Langerhans cell histiocytosis.
The Turkish journal of pediatricsWhole-body MRI in Pediatric Langerhans Cell Histiocytosis-A Comparison With FDG-PET/CT.
Journal of pediatric hematology/oncologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Prospective Collaborative Study for Pulse Dexamethasone and Lenalidomide in Relapsed/Refractory Langerhans Cell Histiocytosis (LENDEX-LCH Study): INPHOG-HIST-19-03 (CTRI/2020/07/026937).
- Trametinib Monotherapy in the Treatment of Pediatric Refractory/Relapse Langerhans Cell Histiocytosis.
- Isolated Intracranial Rosai-Dorfman Disease Mimicking Sellar Pituitary Adenoma: a case report and literature review.
- Behavioral and emotional problems and quality of life in Chinese children with Langerhans cell histiocytosis.
- Choriocarcinoma presenting with cystic lung metastasis mimicking diffuse cystic lung disease.
- B-Acute Lymphoblastic Leukemia Masquerading as Multifocal Langerhans Cell Histiocytosis: a Diagnostic Paradigm Shift.
- Cutaneous Rosai-Dorfman Disease Misdiagnosed as Granulomatous Dermatitis: A Diagnostic Pitfall.
- Age-Stratified Imaging Selection in Langerhans Cell Histiocytosis: Towards a Clinical Decision Framework.
- Spontaneous regression of a presumed orbitocranial eosinophilic granuloma in an adult patient: illustrative case.
- Immunohistochemistry-Based Screening for Targetable Kinase Alterations in Non-Langerhans Cell Histiocytosis with Juvenile Xanthogranuloma morphology.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:389(Orphanet)
- OMIM OMIM:604856(OMIM)
- MONDO:0018310(MONDO)
- GARD:6858(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q374036(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
