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Langerhans cell histiocytosis, multifocal(LCH)

MedGen UID:
5568
Concept ID:
C0019621
Disease or Syndrome; Neoplastic Process
Synonyms: Eosinophilic granuloma (formerly); Hand-Schuller-Christian disease; Hand-Schuller-Christian syndrome; Hand-Schüller-Christian syndrome (formerly); Histiocytosis X; Histiocytosis, Langerhans-Cell; LCH; Letterer-Siwe disease (formerly)
Modes of inheritance:
Inheritance with unknown mechanism
MedGen UID:
831588
Concept ID:
CN227389
Intellectual Product
Source: Orphanet
Describes an inherited disorder with unknown mode of inheritance.
SNOMED CT: Histiocytosis X (65399007); Langerhans cell disease (65399007); Differentiated progressive histiocytosis (65399007); LCH - Langerhan's cell histiocytosis (65399007); Langerhan's cell histiocytosis (65399007); Hand-Schüller-Christian disease (39795003); Langerhans cell histiocytosis (65399007); Histiocytosis X [obs] (128809007); Langerhans cell histiocytosis (128809007); Langerhans cell histiocytosis, poly-ostotic (128811003); Hand-Schuller-Christian disease [obs] (128811003); Langerhans cell histiocytosis, multifocal (128811003); Langerhans cell granulomatosis (128809007); Langerhans cell histiocytosis, no ICD-O subtype (128809007); Schüller-Christian syndrome (39795003); Multifocal and unisystemic Langerhans cell histiocytosis (39795003); Histiocytosis X syndrome (190955000); Langerhans cell histiocytosis, no International Classification of Diseases for Oncology subtype (128809007); Langerhans cell histiocytosis, polyostotic (128811003); Schuller-Christian syndrome (39795003); Hand-Schuller-Christian disease (39795003); Chronic differentiated progressive histiocytosis (39795003); Chronic disseminated histiocytosis X (39795003); Chronic histiocytosis X (39795003); Generalized histiocytosis of bones (39795003); Chronic idiopathic xanthomatosis (39795003)
 
OMIM®: 604856
Orphanet: ORPHA389

Definition

Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the dysregulated proliferation of Langerhans cells and subsequent organ infiltration. Clinical manifestations range from a spontaneously healing isolated osteolytic lesion to a lymphoma-like syndrome with fatal multiorgan failure, in the absence of any cellular evidence of malignancy. Although the disease can present at any age, the peak age at diagnosis is between 1 and 3 years (summary by Arico et al., 1999). Egeler and D'Angio (1995) presented a classification of histiocytosis syndromes in children: class I, Langerhans cell histiocytosis (LCH); class II, histiocytosis of mononuclear macrophages other than Langerhans cells, including familial hemophagocytic lymphohistiocytosis (267700); and class III, malignant histiocytic disorders, including histiocytic lymphoma. [from OMIM]

Additional description

From GHR
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.In approximately 80 percent of affected individuals, one or more granulomas develop in the bones, causing pain and swelling. The granulomas, which usually occur in the skull or the long bones of the arms or legs, may cause the bone to fracture.Granulomas also frequently occur in the skin, appearing as blisters, reddish bumps, or rashes which can be mild to severe. The pituitary gland may also be affected; this gland is located at the base of the brain and produces hormones that control many important body functions. Without hormone supplementation, affected individuals may experience delayed or absent puberty or an inability to have children (infertility). In addition, pituitary gland damage may result in the production of excessive amounts of urine (diabetes insipidus) and dysfunction of another gland called the thyroid. Thyroid dysfunction can affect the rate of chemical reactions in the body (metabolism), body temperature, skin and hair texture, and behavior.In 15 to 20 percent of cases, Langerhans cell histiocytosis affects the lungs, liver, or blood-forming (hematopoietic) system; damage to these organs and tissues may be life-threatening. Lung involvement, which appears as swelling of the small airways (bronchioles) and blood vessels of the lungs, results in stiffening of the lung tissue, breathing problems, and increased risk of infection. Hematopoietic involvement, which occurs when the Langerhans cells crowd out blood-forming cells in the bone marrow, leads to a general reduction in the number of blood cells (pancytopenia). Pancytopenia results in fatigue due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia).Other signs and symptoms that may occur in Langerhans cell histiocytosis, depending on which organs and tissues have Langerhans cell deposits, include swollen lymph nodes, abdominal pain, yellowing of the skin and whites of the eyes (jaundice), delayed puberty, protruding eyes, dizziness, irritability, and seizures. About 1 in 50 affected individuals experience deterioration of neurological function (neurodegeneration).Langerhans cell histiocytosis is often diagnosed in childhood, usually between ages 2 and 3, but can appear at any age. Most individuals with adult-onset Langerhans cell histiocytosis are current or past smokers; in about two-thirds of adult-onset cases the disorder affects only the lungs.The severity of Langerhans cell histiocytosis, and its signs and symptoms, vary widely among affected individuals. Certain presentations or forms of the disorder were formerly considered to be separate diseases. Older names that were sometimes used for forms of Langerhans cell histiocytosis include eosinophilic granuloma, Hand-Schüller-Christian disease, and Letterer-Siwe disease.In many people with Langerhans cell histiocytosis, the disorder eventually goes away with appropriate treatment. It may even disappear on its own, especially if the disease occurs only in the skin. However, some complications of the condition, such as diabetes insipidus or other effects of tissue and organ damage, may be permanent.  https://ghr.nlm.nih.gov/condition/langerhans-cell-histiocytosis

Recent clinical studies

Etiology

Morimoto A, Shioda Y, Imamura T, Kudo K, Kawaguchi H, Sakashita K, Yasui M, Koga Y, Kobayashi R, Ishii E, Fujimoto J, Horibe K, Bessho F, Tsunematsu Y, Imashuku S
Int J Hematol 2016 Jul;104(1):99-109. Epub 2016 Apr 4 doi: 10.1007/s12185-016-1993-3. PMID: 27040279
Duan MH, Han X, Li J, Zhang W, Zhu TN, Han B, Zhuang JL, Wang SJ, Cao XX, Cai HC, Chen M, Yang C, Zhou DB
Leuk Res 2016 Mar;42:43-6. Epub 2016 Jan 28 doi: 10.1016/j.leukres.2016.01.012. PMID: 26859782
Esmaili N, Harris GJ
Ophthal Plast Reconstr Surg 2016 Jan-Feb;32(1):28-34. doi: 10.1097/IOP.0000000000000402. PMID: 25689784
Nielsen N, Akalin A, Sirkis HM, Most MJ
Am J Orthop (Belle Mead NJ) 2015 Dec;44(12):563-8. PMID: 26665244
Martin A, Macmillan S, Murphy D, Carachi R
Scott Med J 2014 Aug;59(3):149-57. Epub 2014 Jul 3 doi: 10.1177/0036933014542387. PMID: 24996784

Diagnosis

Morimoto A, Shioda Y, Imamura T, Kudo K, Kawaguchi H, Sakashita K, Yasui M, Koga Y, Kobayashi R, Ishii E, Fujimoto J, Horibe K, Bessho F, Tsunematsu Y, Imashuku S
Int J Hematol 2016 Jul;104(1):99-109. Epub 2016 Apr 4 doi: 10.1007/s12185-016-1993-3. PMID: 27040279
Lian C, Lu Y, Shen S
Oncotarget 2016 Apr 5;7(14):18678-83. doi: 10.18632/oncotarget.7892. PMID: 26942568Free PMC Article
Onal C, Oymak E, Reyhan M, Canpolat T, Ozyilkan O
Jpn J Radiol 2015 Sep;33(9):603-6. Epub 2015 Jul 26 doi: 10.1007/s11604-015-0466-6. PMID: 26211006
Martin A, Macmillan S, Murphy D, Carachi R
Scott Med J 2014 Aug;59(3):149-57. Epub 2014 Jul 3 doi: 10.1177/0036933014542387. PMID: 24996784
Wang Y, Qiu B, Li P, Cheng P, Li G, Li X, Xu H, Wang Y
J Child Neurol 2012 Jun;27(6):767-78. Epub 2011 Nov 16 doi: 10.1177/0883073811424801. PMID: 22094914

Therapy

Morimoto A, Shioda Y, Imamura T, Kudo K, Kawaguchi H, Sakashita K, Yasui M, Koga Y, Kobayashi R, Ishii E, Fujimoto J, Horibe K, Bessho F, Tsunematsu Y, Imashuku S
Int J Hematol 2016 Jul;104(1):99-109. Epub 2016 Apr 4 doi: 10.1007/s12185-016-1993-3. PMID: 27040279
Duan MH, Han X, Li J, Zhang W, Zhu TN, Han B, Zhuang JL, Wang SJ, Cao XX, Cai HC, Chen M, Yang C, Zhou DB
Leuk Res 2016 Mar;42:43-6. Epub 2016 Jan 28 doi: 10.1016/j.leukres.2016.01.012. PMID: 26859782
Esmaili N, Harris GJ
Ophthal Plast Reconstr Surg 2016 Jan-Feb;32(1):28-34. doi: 10.1097/IOP.0000000000000402. PMID: 25689784
Simko SJ, Tran HD, Jones J, Bilgi M, Beaupin LK, Coulter D, Garrington T, McCavit TL, Moore C, Rivera-Ortegón F, Shaffer L, Stork L, Turcotte L, Welsh EC, Hicks MJ, McClain KL, Allen CE
Pediatr Blood Cancer 2014 Mar;61(3):479-87. Epub 2013 Sep 18 doi: 10.1002/pbc.24772. PMID: 24106153Free PMC Article
Wang Y, Qiu B, Li P, Cheng P, Li G, Li X, Xu H, Wang Y
J Child Neurol 2012 Jun;27(6):767-78. Epub 2011 Nov 16 doi: 10.1177/0883073811424801. PMID: 22094914

Prognosis

Morimoto A, Shioda Y, Imamura T, Kudo K, Kawaguchi H, Sakashita K, Yasui M, Koga Y, Kobayashi R, Ishii E, Fujimoto J, Horibe K, Bessho F, Tsunematsu Y, Imashuku S
Int J Hematol 2016 Jul;104(1):99-109. Epub 2016 Apr 4 doi: 10.1007/s12185-016-1993-3. PMID: 27040279
Lian C, Lu Y, Shen S
Oncotarget 2016 Apr 5;7(14):18678-83. doi: 10.18632/oncotarget.7892. PMID: 26942568Free PMC Article
Karki P, Hirano H, Yamahata H, Fujio S, Yonezawa H, Iida K, Bohara M, Oyoship T, Hanaya R, Arita K
Hiroshima J Med Sci 2015 Dec;64(4):59-63. PMID: 26964155
Nielsen N, Akalin A, Sirkis HM, Most MJ
Am J Orthop (Belle Mead NJ) 2015 Dec;44(12):563-8. PMID: 26665244
Martin A, Macmillan S, Murphy D, Carachi R
Scott Med J 2014 Aug;59(3):149-57. Epub 2014 Jul 3 doi: 10.1177/0036933014542387. PMID: 24996784

Clinical prediction guides

Skowronska-Jozwiak E, Sporny S, Szymanska-Duda J, Baranska D, Lewinski A
Neuro Endocrinol Lett 2016 Jul;37(3):174-178. PMID: 27618599
Esmaili N, Harris GJ
Ophthal Plast Reconstr Surg 2016 Jan-Feb;32(1):28-34. doi: 10.1097/IOP.0000000000000402. PMID: 25689784
Kiratli H, Tarlan B, Söylemezoglu F
Eur J Ophthalmol 2013 Jul-Aug;23(4):578-83. Epub 2013 Mar 6 doi: 10.5301/ejo.5000244. PMID: 23483503
Jiang L, Liu XG, Zhong WQ, Ma QJ, Wei F, Yuan HS, Dang GT, Liu ZJ
Eur Spine J 2011 Nov;20(11):1961-9. Epub 2010 May 22 doi: 10.1007/s00586-010-1390-1. PMID: 20496040Free PMC Article
Imamura T, Sato T, Shiota Y, Kanegane H, Kudo K, Nakagawa S, Nakadate H, Tauchi H, Kamizono J, Morimoto A
Int J Hematol 2010 May;91(4):646-51. Epub 2010 Apr 2 doi: 10.1007/s12185-010-0558-0. PMID: 20361277

Recent systematic reviews

Bezdjian A, Alarfaj AA, Varma N, Daniel SJ
Otolaryngol Head Neck Surg 2015 Nov;153(5):751-7. Epub 2015 Aug 4 doi: 10.1177/0194599815598969. PMID: 26243026
Elia D, Torre O, Cassandro R, Caminati A, Harari S
Eur J Intern Med 2015 Jun;26(5):351-6. Epub 2015 Apr 17 doi: 10.1016/j.ejim.2015.04.001. PMID: 25899682
Haupt R, Minkov M, Astigarraga I, Schäfer E, Nanduri V, Jubran R, Egeler RM, Janka G, Micic D, Rodriguez-Galindo C, Van Gool S, Visser J, Weitzman S, Donadieu J; Euro Histio Network.
Pediatr Blood Cancer 2013 Feb;60(2):175-84. Epub 2012 Oct 25 doi: 10.1002/pbc.24367. PMID: 23109216Free PMC Article
Donadieu J, Chalard F, Jeziorski E
Expert Opin Pharmacother 2012 Jun;13(9):1309-22. Epub 2012 May 11 doi: 10.1517/14656566.2012.688028. PMID: 22578036
Sapkas G, Papadakis M
Acta Orthop Belg 2011 Apr;77(2):260-4. PMID: 21667741

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