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Erdheim-Chester disease

MedGen UID:
163902
•Concept ID:
C0878675
•
Disease or Syndrome
Synonym: Lipoid granulomatosis
SNOMED CT: Polyostotic sclerosing histiocytosis (699537002); Erdheim-Chester disease (699537002); Erdheim-Chester syndrome (699537002); Erdheim-Chester disease (703711007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018153
Orphanet: ORPHA35687

Definition

Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErdheim-Chester disease
Follow this link to review classifications for Erdheim-Chester disease in Orphanet.

Professional guidelines

PubMed

Highlights of the Management of Adult Histiocytic Disorders: Langerhans Cell Histiocytosis, Erdheim-Chester Disease, Rosai-Dorfman Disease, and Hemophagocytic Lymphohistiocytosis.
Salama HA, Jazieh AR, Alhejazi AY, Absi A, Alshieban S, Alzahrani M, Alaskar A, Gmati G, Damlaj M, Abuelgasim KA, Alghamdi A, Alahmari B, Almugairi A, Alzahrani H, Bazarbachi A, Musa MOH, Goyal G
Clin Lymphoma Myeloma Leuk 2021 Jan;21(1):e66-e75. Epub 2020 Aug 18 doi: 10.1016/j.clml.2020.08.007. PMID: 32943371Free PMC Article
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era.
Goyal G, Heaney ML, Collin M, Cohen-Aubart F, Vaglio A, Durham BH, Hershkovitz-Rokah O, Girschikofsky M, Jacobsen ED, Toyama K, Goodman AM, Hendrie P, Cao XX, Estrada-Veras JI, Shpilberg O, Abdo A, Kurokawa M, Dagna L, McClain KL, Mazor RD, Picarsic J, Janku F, Go RS, Haroche J, Diamond EL
Blood 2020 May 28;135(22):1929-1945. doi: 10.1182/blood.2019003507. PMID: 32187362
The Mayo Clinic Histiocytosis Working Group Consensus Statement for the Diagnosis and Evaluation of Adult Patients With Histiocytic Neoplasms: Erdheim-Chester Disease, Langerhans Cell Histiocytosis, and Rosai-Dorfman Disease.
Goyal G, Young JR, Koster MJ, Tobin WO, Vassallo R, Ryu JH, Davidge-Pitts CJ, Hurtado MD, Ravindran A, Sartori Valinotti JC, Bennani NN, Shah MV, Rech KL, Go RS; Mayo Clinic Histiocytosis Working Group
Mayo Clin Proc 2019 Oct;94(10):2054-2071. Epub 2019 Aug 28 doi: 10.1016/j.mayocp.2019.02.023. PMID: 31472931

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Histiocytic Neoplasms, 2024

Recent clinical studies

Etiology

Histiocytosis.
Rocamora-Blanch G, Climent F, Solanich X
Med Clin (Barc) 2023 Aug 25;161(4):166-175. Epub 2023 May 30 doi: 10.1016/j.medcli.2023.05.001. PMID: 37263840
Cutaneous histiocytoses in children.
Fraitag S, Emile JF
Histopathology 2022 Jan;80(1):196-215. doi: 10.1111/his.14569. PMID: 34958507
Langerhans cell histiocytosis: Version 2021.
Gulati N, Allen CE
Hematol Oncol 2021 Jun;39 Suppl 1(Suppl 1):15-23. doi: 10.1002/hon.2857. PMID: 34105821Free PMC Article
Erdheim-Chester disease.
Starkebaum G, Hendrie P
Best Pract Res Clin Rheumatol 2020 Aug;34(4):101510. Epub 2020 Apr 15 doi: 10.1016/j.berh.2020.101510. PMID: 32305313
Erdheim-Chester disease.
Haroche J, Cohen-Aubart F, Amoura Z
Blood 2020 Apr 16;135(16):1311-1318. doi: 10.1182/blood.2019002766. PMID: 32107533

Diagnosis

Histiocytosis.
Rocamora-Blanch G, Climent F, Solanich X
Med Clin (Barc) 2023 Aug 25;161(4):166-175. Epub 2023 May 30 doi: 10.1016/j.medcli.2023.05.001. PMID: 37263840
Erdheim-Chester Disease.
Benson JC, Vaubel R, Ebne BA, Mark IT, Peris Celda M, Hook CC, Tobin WO, Giannini C
AJNR Am J Neuroradiol 2023 May;44(5):505-510. Epub 2023 Mar 30 doi: 10.3174/ajnr.A7832. PMID: 36997288Free PMC Article
Histiocytic disorders.
McClain KL, Bigenwald C, Collin M, Haroche J, Marsh RA, Merad M, Picarsic J, Ribeiro KB, Allen CE
Nat Rev Dis Primers 2021 Oct 7;7(1):73. doi: 10.1038/s41572-021-00307-9. PMID: 34620874Free PMC Article
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era.
Goyal G, Heaney ML, Collin M, Cohen-Aubart F, Vaglio A, Durham BH, Hershkovitz-Rokah O, Girschikofsky M, Jacobsen ED, Toyama K, Goodman AM, Hendrie P, Cao XX, Estrada-Veras JI, Shpilberg O, Abdo A, Kurokawa M, Dagna L, McClain KL, Mazor RD, Picarsic J, Janku F, Go RS, Haroche J, Diamond EL
Blood 2020 May 28;135(22):1929-1945. doi: 10.1182/blood.2019003507. PMID: 32187362
Erdheim-Chester disease.
Haroche J, Cohen-Aubart F, Amoura Z
Blood 2020 Apr 16;135(16):1311-1318. doi: 10.1182/blood.2019002766. PMID: 32107533

Therapy

Erdheim-Chester disease.
Brychtová M, Vlachová M, Gregorová J, Krejčí M, Adam Z, Ševčíková S
Klin Onkol 2021 Fall;34(6):434-439. doi: 10.48095/ccko2021434. PMID: 34911328
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era.
Goyal G, Heaney ML, Collin M, Cohen-Aubart F, Vaglio A, Durham BH, Hershkovitz-Rokah O, Girschikofsky M, Jacobsen ED, Toyama K, Goodman AM, Hendrie P, Cao XX, Estrada-Veras JI, Shpilberg O, Abdo A, Kurokawa M, Dagna L, McClain KL, Mazor RD, Picarsic J, Janku F, Go RS, Haroche J, Diamond EL
Blood 2020 May 28;135(22):1929-1945. doi: 10.1182/blood.2019003507. PMID: 32187362
Vemurafenib in Multiple Nonmelanoma Cancers with BRAF V600 Mutations.
Hyman DM, Puzanov I, Subbiah V, Faris JE, Chau I, Blay JY, Wolf J, Raje NS, Diamond EL, Hollebecque A, Gervais R, Elez-Fernandez ME, Italiano A, Hofheinz RD, Hidalgo M, Chan E, Schuler M, Lasserre SF, Makrutzki M, Sirzen F, Veronese ML, Tabernero J, Baselga J
N Engl J Med 2015 Aug 20;373(8):726-36. doi: 10.1056/NEJMoa1502309. PMID: 26287849Free PMC Article
Erdheim-Chester disease.
Campochiaro C, Tomelleri A, Cavalli G, Berti A, Dagna L
Eur J Intern Med 2015 May;26(4):223-9. Epub 2015 Apr 10 doi: 10.1016/j.ejim.2015.03.004. PMID: 25865950
Erdheim-Chester disease.
Haroche J, Arnaud L, Amoura Z
Curr Opin Rheumatol 2012 Jan;24(1):53-9. doi: 10.1097/BOR.0b013e32834d861d. PMID: 22089098

Prognosis

Erdheim-Chester disease.
Brychtová M, Vlachová M, Gregorová J, Krejčí M, Adam Z, Ševčíková S
Klin Onkol 2021 Fall;34(6):434-439. doi: 10.48095/ccko2021434. PMID: 34911328
Histiocytosis and the nervous system: from diagnosis to targeted therapies.
Cohen Aubart F, Idbaih A, Emile JF, Amoura Z, Abdel-Wahab O, Durham BH, Haroche J, Diamond EL
Neuro Oncol 2021 Sep 1;23(9):1433-1446. doi: 10.1093/neuonc/noab107. PMID: 33993305Free PMC Article
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era.
Goyal G, Heaney ML, Collin M, Cohen-Aubart F, Vaglio A, Durham BH, Hershkovitz-Rokah O, Girschikofsky M, Jacobsen ED, Toyama K, Goodman AM, Hendrie P, Cao XX, Estrada-Veras JI, Shpilberg O, Abdo A, Kurokawa M, Dagna L, McClain KL, Mazor RD, Picarsic J, Janku F, Go RS, Haroche J, Diamond EL
Blood 2020 May 28;135(22):1929-1945. doi: 10.1182/blood.2019003507. PMID: 32187362
Erdheim-Chester disease.
Haroche J, Cohen-Aubart F, Amoura Z
Blood 2020 Apr 16;135(16):1311-1318. doi: 10.1182/blood.2019002766. PMID: 32107533
Erdheim-Chester disease.
Haroche J, Arnaud L, Amoura Z
Curr Opin Rheumatol 2012 Jan;24(1):53-9. doi: 10.1097/BOR.0b013e32834d861d. PMID: 22089098

Clinical prediction guides

Imaging in Erdheim-Chester Disease.
Aswani Y, Patel A, Zhan X, Ansari S, Marcelino LG, Aswani N, Patel DD, Kandemirli S, Averill S, Bhatt S
Radiographics 2024 Sep;44(9):e240011. doi: 10.1148/rg.240011. PMID: 39172709
Erdheim-Chester disease.
Haroche J, Cohen-Aubart F, Amoura Z
Blood 2020 Apr 16;135(16):1311-1318. doi: 10.1182/blood.2019002766. PMID: 32107533
Vemurafenib in Multiple Nonmelanoma Cancers with BRAF V600 Mutations.
Hyman DM, Puzanov I, Subbiah V, Faris JE, Chau I, Blay JY, Wolf J, Raje NS, Diamond EL, Hollebecque A, Gervais R, Elez-Fernandez ME, Italiano A, Hofheinz RD, Hidalgo M, Chan E, Schuler M, Lasserre SF, Makrutzki M, Sirzen F, Veronese ML, Tabernero J, Baselga J
N Engl J Med 2015 Aug 20;373(8):726-36. doi: 10.1056/NEJMoa1502309. PMID: 26287849Free PMC Article
Erdheim-Chester disease.
Haroche J, Arnaud L, Cohen-Aubart F, Hervier B, Charlotte F, Emile JF, Amoura Z
Curr Rheumatol Rep 2014 Apr;16(4):412. doi: 10.1007/s11926-014-0412-0. PMID: 24532298
Erdheim-Chester disease.
Haroche J, Arnaud L, Amoura Z
Curr Opin Rheumatol 2012 Jan;24(1):53-9. doi: 10.1097/BOR.0b013e32834d861d. PMID: 22089098

Recent systematic reviews

Hypophysitis: A comprehensive overview.
de Vries F, van Furth WR, Biermasz NR, Pereira AM
Presse Med 2021 Dec;50(4):104076. Epub 2021 Oct 21 doi: 10.1016/j.lpm.2021.104076. PMID: 34687912
The triptych of mixed histiocytosis: a systematic review of 105 cases and proposed clinical classification.
Bonometti A; for Associazione Italiana Ricerca Istiocitosi AIRI ONLUS
Leuk Lymphoma 2021 Jan;62(1):32-44. Epub 2020 Sep 24 doi: 10.1080/10428194.2020.1824070. PMID: 32969291
A Clinical Perspective on Advanced Developments in Bone Biopsy Assessment in Rare Bone Disorders.
Treurniet S, Eekhoff EMW, Schmidt FN, Micha D, Busse B, Bravenboer N
Front Endocrinol (Lausanne) 2020;11:399. Epub 2020 Jun 23 doi: 10.3389/fendo.2020.00399. PMID: 32714279Free PMC Article
Skull Base Manifestations of Erdheim-Chester Disease: A Case Series and Systematic Review.
Marinelli JP, Peters PA, Vaglio A, Van Gompel JJ, Lane JI, Carlson ML
Neurosurgery 2019 Oct 1;85(4):E693-E701. doi: 10.1093/neuros/nyz027. PMID: 30828728
Erdheim-Chester disease: a systematic review.
Cives M, Simone V, Rizzo FM, Dicuonzo F, Cristallo Lacalamita M, Ingravallo G, Silvestris F, Dammacco F
Crit Rev Oncol Hematol 2015 Jul;95(1):1-11. Epub 2015 Feb 17 doi: 10.1016/j.critrevonc.2015.02.004. PMID: 25744785

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    Clinical resources

    Practice guidelines

    • PubMed
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Histiocytic Neoplasms, 2024

    Reviews

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