LCH
MCID: LNG024
MIFTS: 57

Langerhans-Cell Histiocytosis (LCH) malady

Rare diseases, Respiratory diseases, Bone diseases, Blood diseases, Cancer diseases, Immune diseases categories
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Summaries for Langerhans-Cell Histiocytosis

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NIH Rare Diseases:42 Langerhans cell histiocytosis (lch) is a disorder that primarily affects children, but is also found in adults of all ages. people with lch produce too many langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. in people with lch, these cells multiply excessively and build up in certain areas of the body, causing tumors called granulomas to form. the symptoms vary among affected individuals, and the cause of lch is unknown. in most cases, this condition is not life-threatening. some people do experience life-long problems associated with lch. last updated: 10/18/2013

MalaCards based summary: Langerhans-Cell Histiocytosis, also known as letterer-siwe disease, is related to histiocytosis and sarcoma, and has symptoms including anomalies of tongue, gingiva and oral mucosa, anomalies of teeth and dentition and premature eruption of teeth/natal teeth. An important gene associated with Langerhans-Cell Histiocytosis is CD207 (CD207 molecule, langerin). The drug thalidomide has been mentioned in the context of this disorder. Affiliated tissues include lymph node, bone and spleen.

Disease Ontology:8 A histiocytosis that is characterized by clonal proliferation of langerhans cells.

Genetics Home Reference:21 Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body. Langerhans cells, which help regulate the immune system, are normally found throughout the body, especially in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In Langerhans cell histiocytosis, excess immature Langerhans cells usually form tumors called granulomas. However, Langerhans cell histiocytosis is not generally considered to be a form of cancer.

Wikipedia:65 Langerhans cell histiocytosis (LCH) is a rare disease involving clonal proliferation of Langerhans... more...

Descriptions from OMIM:46 246400,604856

Aliases & Classifications for Langerhans-Cell Histiocytosis

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Sources:
8Disease Ontology, 10DISEASES, 62UMLS, 21Genetics Home Reference, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 44Novoseek, 57SNOMED-CT, 27ICD9CM, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Langerhans-Cell Histiocytosis, Aliases & Descriptions:

Name: Langerhans-Cell Histiocytosis 8 10
Letterer-Siwe Disease 8 42 10 48 46
Eosinophilic Granuloma 42 44 48 62
Histiocytosis X 8 42 21 44
Langerhans Cell Histiocytosis 42 21 44
Letterer-Siwe Disease of Lymph Nodes of Multiple Sites 8 62
Letterer-Siwe Disease of Intra-Abdominal Lymph Nodes 8 62
Letterer-Siwe Disease of Intrathoracic Lymph Nodes 8 62
Letterer-Siwe Disease of Intrapelvic Lymph Nodes 8 62
Letterer-Siwe Disease of Spleen 8 62
Langerhans Cell Granulomatosis 8 21
Hashimoto-Pritzger Disease 21 62
Lch 42 21
Letterer-Siwe Disease Involving Lymph Nodes of Inguinal Region and Lower Limb 8
Letterer-Siwe Disease of Lymph Nodes of Inguinal Region and/or Lower Limb 8
Letterer-Siwe Disease of Lymph Nodes of Inguinal Region Amd/or Lower Limb 8
Letterer-Siwe Disease of Lymph Nodes of Inguinal Region and Lower Limb 8
Letterer-Siwe Disease Involving Lymph Nodes of Axilla and Upper Limb 8
Letterer-Siwe Disease Involving Lymph Nodes of Head, Face, and Neck 8
 
Letterer-Siwe Disease Involving Lymph Nodes of Head, Face and Neck 8
Letterer-Siwe Disease of Lymph Nodes of Axilla and/or Upper Limb 8
Letterer-Siwe Disease of Lymph Nodes of Head, Face and/or Neck 8
Letterer-Siwe Disease of Lymph Nodes of Axilla and Upper Limb 8
Letterer-Siwe Disease Involving Lymph Nodes of Multiple Sites 8
Letterer-Siwe Disease of Lymph Nodes of Head, Face and Neck 8
Letterer-Siwe Disease Involving Intra-Abdominal Lymph Nodes 8
Letterer-Siwe Disease Involving Intrathoracic Lymph Nodes 8
Letterer-Siwe Disease Involving Intrapelvic Lymph Nodes 8
Acute and Disseminated Langerhans Cell Histiocytosis 48
Chronic and Multifocal Langerhans Cell Histiocytosis 48
Chronic and Localized Langerhans Cell Histiocytosis 48
Letterer-Siwe Disease Involving Spleen 8
Eosinophilic Granuloma, Multifocal 62
Hand-Schüller-Christian Syndrome 42
Multifocal Eosinophilic Granuloma 48
Hand-Schüller-Christian Disease 48
Histiocytosis, Langerhans-Cell 62
Langerhan's Cell Histiocytosis 8


Classifications:



Characteristics (Orphanet epidemiological data):

48
letterer-siwe disease:
Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:2571
ICD9CM27 202.5
MESH via Orphanet35 D004803, C538636
ICD10 via Orphanet26 C96.6, C96.5, C96.0
UMLS via Orphanet63 C0014461, C0023381

Related Diseases for Langerhans-Cell Histiocytosis

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Graphical network of the top 20 diseases related to Langerhans-Cell Histiocytosis:



Diseases related to langerhans-cell histiocytosis

Symptoms for Langerhans-Cell Histiocytosis

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Symptoms by clinical synopsis from OMIM:

246400

Clinical features from OMIM:

246400,604856

Symptoms:

48 (show all 31)
  • anomalies of tongue, gingiva and oral mucosa
  • anomalies of teeth and dentition
  • premature eruption of teeth/natal teeth
  • thoracic/chest pain
  • mutiple fractures/bone fragility
  • osteolysis/osteoclasia/bone destruction/erosions
  • bone pain
  • lung/pulmonary infiltrates
  • bone tumefaction/swelling
  • fever/chilling
  • asthenia/fatigue/weakness
  • proptosis/exophthalmos
  • chronic/relapsing otitis
  • tapered fingers
  • hyperhidrosis/increased sweating
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • emphysema
  • cough
  • pulmonary hypertension
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • lymphadenopathy/polyadenopathies
  • facial pain/cephalalgia/migraine
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • hydrarthrosis/articular/joint effusion
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • lymphoma
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • diabetes insipidus
  • follicular/erythematous/edematous papules/milium
  • hepatomegaly/liver enlargement (excluding storage disease)

HPO human phenotypes related to Langerhans-Cell Histiocytosis:

(show all 46)
id Description Frequency HPO Source Accession
1 bone pain hallmark (90%) HP:0002653
2 recurrent fractures hallmark (90%) HP:0002757
3 osteolysis hallmark (90%) HP:0002797
4 advanced eruption of teeth hallmark (90%) HP:0006288
5 chest pain hallmark (90%) HP:0100749
6 proptosis hallmark (90%) HP:0000520
7 diabetes insipidus hallmark (90%) HP:0000873
8 osteolysis hallmark (90%) HP:0002797
9 pulmonary infiltrates typical (50%) HP:0002113
10 abnormality of temperature regulation typical (50%) HP:0004370
11 otitis media occasional (7.5%) HP:0000388
12 proptosis occasional (7.5%) HP:0000520
13 hyperhidrosis occasional (7.5%) HP:0000975
14 tapered finger occasional (7.5%) HP:0001182
15 joint swelling occasional (7.5%) HP:0001386
16 migraine occasional (7.5%) HP:0002076
17 restrictive lung disease occasional (7.5%) HP:0002091
18 pulmonary hypertension occasional (7.5%) HP:0002092
19 respiratory insufficiency occasional (7.5%) HP:0002093
20 emphysema occasional (7.5%) HP:0002097
21 lymphoma occasional (7.5%) HP:0002665
22 lymphadenopathy occasional (7.5%) HP:0002716
23 decreased body weight occasional (7.5%) HP:0004325
24 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
25 chronic obstructive pulmonary disease occasional (7.5%) HP:0006510
26 neoplasm of the lung occasional (7.5%) HP:0100526
27 abnormality of the skin occasional (7.5%) HP:0000951
28 pulmonary infiltrates occasional (7.5%) HP:0002113
29 hepatomegaly occasional (7.5%) HP:0002240
30 lymphadenopathy occasional (7.5%) HP:0002716
31 autosomal recessive inheritance HP:0000007
32 irritability HP:0000737
33 abnormality of the skeletal system HP:0000924
34 jaundice HP:0000952
35 pallor HP:0000980
36 seborrheic dermatitis HP:0001051
37 encephalopathy HP:0001298
38 hepatosplenomegaly HP:0001433
39 thrombocytopenia HP:0001873
40 neutropenia HP:0001875
41 anemia HP:0001903
42 fever HP:0001945
43 dyspnea HP:0002094
44 pulmonary infiltrates HP:0002113
45 abdominal distention HP:0003270
46 stomatitis HP:0010280

Drugs & Therapeutics for Langerhans-Cell Histiocytosis

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Drug clinical trials:

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Search NIH Clinical Center for Langerhans-Cell Histiocytosis

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Langerhans-Cell Histiocytosis

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Anatomical Context for Langerhans-Cell Histiocytosis

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MalaCards organs/tissues related to Langerhans-Cell Histiocytosis:

32
Lymph node, Bone, Spleen, Skin, Lung, Bone marrow, Liver, Thyroid, Pituitary, Myeloid, T cells, Tongue, Colon, Testes, Thymus, Spinal cord, Breast, B cells, Heart, Tonsil, Monocytes

Animal Models for Langerhans-Cell Histiocytosis or affiliated genes

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Publications for Langerhans-Cell Histiocytosis

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Articles related to Langerhans-Cell Histiocytosis:

(show top 50)    (show all 663)
idTitleAuthorsYear
1
Severe pulmonary hypertension in adult pulmonary Langerhans cell histiocytosis: the effect of sildenafil as a bridge to lung transplantation. (25175135)
2014
2
Chromium-Induced Diffuse Dermatitis and Lymph Node Involvement by Langerhans Cell Histiocytosis After Metal-on-Metal Hip Resurfacing. (25385406)
2014
3
Pulmonary Langerhans cell histiocytosis in children: A spectrum of radiologic findings. (23769766)
2014
4
Skeletal involvement in Langerhans cell histiocytosis. (23907805)
2013
5
Rapid resolution of pulmonary Langerhans cell histiocytosis. (23749831)
2013
6
Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome. (24339506)
2013
7
Pulmonary adenocarcinoma in a young patient of pulmonary langerhans cell histiocytosis (PLCH). (23857403)
2013
8
Multisystem Langerhans cell histiocytosis in adult. (22470214)
2012
9
Juvenile xanthogranuloma developing after treatment of Langerhans cell histiocytosis: case report and literature review. (22977671)
2012
10
Langerhans' cell histiocytosis of the temporal bone. (21725272)
2012
11
Langerhans cell histiocytosis of the temporal bone. (21970849)
2012
12
Adult Langerhans cell histiocytosis in a middle aged Ethiopian woman. (22924288)
2012
13
Pulmonary langerhans cell histiocytosis. (22429393)
2012
14
Langerhans cell histiocytosis: two clinical presentations in the same patient. (22301045)
2012
15
Langerhans cell histiocytosis first presenting in the skin in adults: frequent association with a second haematological malignancy. (22835048)
2012
16
Splenomegaly unresponsive to standard and salvage chemotherapy in Langerhans cell histiocytosis: a case of extramedullary hematopoiesis. (21922646)
2012
17
A case of coexisting Warthin tumor and langerhans cell histiocytosis associated with necrosis, eosinophilic abscesses and a granulomatous reaction in intraparotid lymph nodes. (21769315)
2011
18
Treatment of patients with hypothalamic-pituitary lesions as adult-onset Langerhans cell histiocytosis. (22015494)
2011
19
Langerhans cell histiocytosis preceding the development of juvenile xanthogranuloma: a case and review of recent developments. (21793710)
2011
20
Localized Langerhans cell histiocytosis of the stomach treated by endoscopic submucosal dissection. (21837608)
2011
21
Clinical pathologic conference case 2: Langerhans cell histiocytosis. (21874507)
2011
22
Case report: Langerhans cell histiocytosis presenting as massive cervical adenopathy and retropharyngeal thickening: importance of chest radiography and coordinated airway and anesthetic management. (20145506)
2010
23
Uncommon features of pulmonary Langerhans' cell histiocytosis: analysis of 11 cases and a review of the literature. (20193493)
2010
24
Cutaneous Langerhans cell histiocytosis in an elderly woman. (21062600)
2010
25
A role for ITPA variants in the clinical course of pulmonary Langerhans' cell histiocytosis? (20930204)
2010
26
Langerhans cell histiocytosis with thyroid and lung involvement in a child: a case report. (20224443)
2010
27
Langerhans cell histiocytosis in an adult: good response of cutaneous lesions to acitretin. (20184614)
2010
28
MACOP-B regimen in the treatment of adult Langerhans cell histiocytosis: experience on seven patients. (19861578)
2010
29
Multifocal Langerhans cell histiocytosis with infiltrative pelvic lesions: PET/CT imaging. (20838300)
2010
30
Cranial unifocal Langerhans cell histiocytosis in children. (19302861)
2009
31
Cerebral non-Langerhans cell histiocytosis in a 17-year-old patient with a headache: case report. (19363626)
2009
32
A case of langerhans cell histiocytosis with anal fistula. (20505285)
2009
33
Immunocytochemical investigation of Langerin (CD207) is a valuable adjunct in the cytological diagnosis of Langerhans cell histiocytosis of the thyroid. (19195798)
2009
34
Langerhans cell histiocytosis: treatment failure with imatinib. (19687437)
2009
35
Intradural dirofilariasis mimicking a Langerhans cell histiocytosis tumor. (19489058)
2009
36
Langerhans cell histiocytosis with multifocal bone lesions: comparative clinical features between single and multi-systems. (19779766)
2009
37
Langerhans cell histiocytosis presenting as brown lichenoid patches. (20523803)
2009
38
Langerhans cell histiocytosis: literature review and descriptive analysis of oral manifestations. (19218906)
2009
39
Aggressive Langerhans cell histiocytosis following T-ALL: clonally related neoplasms with persistent expression of constitutively active NOTCH1. (17874453)
2008
40
Concurrence of marginal zone B-cell lymphoma MALT-type and Langerhans cell histiocytosis in a thyroid gland with Hashimoto disease. (18401582)
2008
41
Anterior uveitis and iris nodules that are associated with Langerhans cell histiocytosis. (16376670)
2005
42
Serum levels of interleukin-1 receptor antagonist and tumor necrosis factor-alpha are elevated in children with Langerhans cell histiocytosis. (12794527)
2003
43
Differentiation of Langerhans cells in Langerhans cell histiocytosis. (11222366)
2001
44
Benign cephalic histiocytosis progressing into juvenile xanthogranuloma: a non-Langerhans cell histiocytosis transforming under the influence of a virus? (10698221)
2000
45
Detection of Langerhans cell histiocytosis lesions with somatostatin analogue scintigraphy--a preliminary report. (11070478)
2000
46
DNA polymorphisms and mutations of the tumor necrosis factor-alpha (TNF-alpha) promoter in Langerhans cell histiocytosis (LCH). (9355965)
1997
47
CNS sequelae in Langerhans cell histiocytosis: progressive spinocerebellar degeneration as a late manifestation of the disease. (9383811)
1997
48
Monokine expression in Langerhans' cell histiocytosis and sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) (8691347)
1996
49
Langerhans' cell histiocytosis. Definitive diagnosis with the use of monoclonal antibody O10 on routinely paraffin-embedded samples. (7755150)
1995
50
The hepatopulmonary syndrome masquerading as pulmonary Langerhans-cell histiocytosis. Hepatopulmonary Syndrome Study Group. (8198345)
1994

Variations for Langerhans-Cell Histiocytosis

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Expression for genes affiliated with Langerhans-Cell Histiocytosis

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Expression patterns in normal tissues for genes affiliated with Langerhans-Cell Histiocytosis

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Pathways for genes affiliated with Langerhans-Cell Histiocytosis

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Compounds for genes affiliated with Langerhans-Cell Histiocytosis

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GO Terms for genes affiliated with Langerhans-Cell Histiocytosis

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Products for genes affiliated with Langerhans-Cell Histiocytosis

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  • Proteins
  • Lysates

Sources for Langerhans-Cell Histiocytosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet