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Cutaneous Erdheim-Chester Disease

MedGen UID:
1709068
•Concept ID:
C5239291
•
Neoplastic Process

Definition

Erdheim-Chester disease that affects the skin. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCutaneous Erdheim-Chester Disease

Professional guidelines

PubMed

Treatment of Langerhans cell histiocytosis: role of BRAF/MAPK inhibition.
Abla O, Weitzman S
Hematology Am Soc Hematol Educ Program 2015;2015:565-70. doi: 10.1182/asheducation-2015.1.565. PMID: 26637773

Recent clinical studies

Etiology

Cutaneous histiocytoses in children.
Fraitag S, Emile JF
Histopathology 2022 Jan;80(1):196-215. doi: 10.1111/his.14569. PMID: 34958507
Histiocytosis and Neoplasms of Macrophage-Dendritic Cell Lineages: Multimodality Imaging with Emphasis on PET/CT.
Huynh KN, Nguyen BD
Radiographics 2021 Mar-Apr;41(2):576-594. Epub 2021 Feb 19 doi: 10.1148/rg.2021200096. PMID: 33606566
Erdheim-Chester disease: expanding the spectrum of cutaneous manifestations.
Kobic A, Shah KK, Schmitt AR, Goyal G, Go RS, Guo R, Rech KL, Sartori-Valinotti JC; Mayo Clinic Histiocytosis Working Group
Br J Dermatol 2020 Feb;182(2):405-409. Epub 2019 Sep 8 doi: 10.1111/bjd.18153. PMID: 31120137
Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients.
Chasset F, Barete S, Charlotte F, Cohen-Aubart F, Arnaud L, Le Pelletier F, Emile JF, Francès C, Amoura Z, Haroche J
J Am Acad Dermatol 2016 Mar;74(3):513-20. Epub 2016 Jan 16 doi: 10.1016/j.jaad.2015.11.007. PMID: 26785805
The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim-Chester disease.
García-Gómez FJ, Acevedo-Báñez I, Martínez-Castillo R, Tirado-Hospital JL, Cuenca-Cuenca JI, Pachón-Garrudo VM, Álvarez-Pérez RM, García-Jiménez R, Rivas-Infante E, García-Morillo JS, Borrego-Dorado I
Eur J Radiol 2015 Aug;84(8):1586-1592. Epub 2015 Apr 30 doi: 10.1016/j.ejrad.2015.04.022. PMID: 25975897

Diagnosis

Erdheim-Chester disease: a comprehensive review from the ophthalmologic perspective.
Kanakis M, Petrou P, Lourida G, Georgalas I
Surv Ophthalmol 2022 Mar-Apr;67(2):388-410. Epub 2021 May 31 doi: 10.1016/j.survophthal.2021.05.013. PMID: 34081930
Histiocytosis and Neoplasms of Macrophage-Dendritic Cell Lineages: Multimodality Imaging with Emphasis on PET/CT.
Huynh KN, Nguyen BD
Radiographics 2021 Mar-Apr;41(2):576-594. Epub 2021 Feb 19 doi: 10.1148/rg.2021200096. PMID: 33606566
Erdheim-Chester disease: expanding the spectrum of cutaneous manifestations.
Kobic A, Shah KK, Schmitt AR, Goyal G, Go RS, Guo R, Rech KL, Sartori-Valinotti JC; Mayo Clinic Histiocytosis Working Group
Br J Dermatol 2020 Feb;182(2):405-409. Epub 2019 Sep 8 doi: 10.1111/bjd.18153. PMID: 31120137
Erdheim-Chester disease presenting with cutaneous involvement: a case report and literature review.
Volpicelli ER, Doyle L, Annes JP, Murray MF, Jacobsen E, Murphy GF, Saavedra AP
J Cutan Pathol 2011 Mar;38(3):280-5. Epub 2010 Dec 12 doi: 10.1111/j.1600-0560.2010.01650.x. PMID: 21143617Free PMC Article
Erdheim-Chester disease.
Opie KM, Kaye J, Vinciullo C
Australas J Dermatol 2003 Aug;44(3):194-8. doi: 10.1046/j.1440-0960.2003.00677.x. PMID: 12869045

Therapy

Erdheim-Chester Disease: A Case Report of BRAF V600E-Negative, MAP2K1-Positive ECD Diagnosed by Blood Next-Generation Sequencing Assay and a Brief Literature Review.
Aggarwal A, Taychert M, Hasanin L, Doll D, Basuino MG, Hasanein H
Oncology (Williston Park) 2023 Jul 21;37(7):298-302. doi: 10.46883/2023.25921001. PMID: 37499251
Erdheim-Chester disease: a comprehensive review from the ophthalmologic perspective.
Kanakis M, Petrou P, Lourida G, Georgalas I
Surv Ophthalmol 2022 Mar-Apr;67(2):388-410. Epub 2021 May 31 doi: 10.1016/j.survophthal.2021.05.013. PMID: 34081930
Clinical presentation, imaging and response to interferon-alpha therapy in Erdheim-Chester disease: case-based review.
Iaremenko O, Petelytska L, Dyadyk O, Negria N, Fedkov D
Rheumatol Int 2020 Sep;40(9):1529-1536. Epub 2020 Jun 22 doi: 10.1007/s00296-020-04627-z. PMID: 32572610
The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim-Chester disease.
García-Gómez FJ, Acevedo-Báñez I, Martínez-Castillo R, Tirado-Hospital JL, Cuenca-Cuenca JI, Pachón-Garrudo VM, Álvarez-Pérez RM, García-Jiménez R, Rivas-Infante E, García-Morillo JS, Borrego-Dorado I
Eur J Radiol 2015 Aug;84(8):1586-1592. Epub 2015 Apr 30 doi: 10.1016/j.ejrad.2015.04.022. PMID: 25975897
Erdheim-Chester disease: a histiocytic disorder more than skin deep.
Skinner M, Briant M, Morgan MB
Am J Dermatopathol 2011 Apr;33(2):e24-6. doi: 10.1097/DAD.0b013e3181f2bf06. PMID: 21358382

Prognosis

Erdheim-Chester Disease: A Case Report of BRAF V600E-Negative, MAP2K1-Positive ECD Diagnosed by Blood Next-Generation Sequencing Assay and a Brief Literature Review.
Aggarwal A, Taychert M, Hasanin L, Doll D, Basuino MG, Hasanein H
Oncology (Williston Park) 2023 Jul 21;37(7):298-302. doi: 10.46883/2023.25921001. PMID: 37499251
MAP2K1-driven mixed Langerhans cell histiocytosis, Rosai-Dorfman-Destombes disease and Erdheim-Chester disease, clonally related to acute myeloid leukemia.
Bonometti A, Ferrario G, Parafioriti A, Giardino D, Simonetti F, Ginori A, Passoni E, Berti E; for AIRI, Associazione Italiana Ricerca Istiocitosi ONLUS
J Cutan Pathol 2021 May;48(5):637-643. Epub 2020 Nov 24 doi: 10.1111/cup.13918. PMID: 33188581
Histopathological and Clinical Findings in Cutaneous Manifestation of Erdheim-Chester Disease and Langerhans Cell Histiocytosis Overlap Syndrome Associated With the BRAFV600E Mutation.
Liersch J, Carlson JA, Schaller J
Am J Dermatopathol 2017 Jul;39(7):493-503. doi: 10.1097/DAD.0000000000000793. PMID: 27898473
The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim-Chester disease.
García-Gómez FJ, Acevedo-Báñez I, Martínez-Castillo R, Tirado-Hospital JL, Cuenca-Cuenca JI, Pachón-Garrudo VM, Álvarez-Pérez RM, García-Jiménez R, Rivas-Infante E, García-Morillo JS, Borrego-Dorado I
Eur J Radiol 2015 Aug;84(8):1586-1592. Epub 2015 Apr 30 doi: 10.1016/j.ejrad.2015.04.022. PMID: 25975897
Erdheim-Chester disease presenting with cutaneous involvement: a case report and literature review.
Volpicelli ER, Doyle L, Annes JP, Murray MF, Jacobsen E, Murphy GF, Saavedra AP
J Cutan Pathol 2011 Mar;38(3):280-5. Epub 2010 Dec 12 doi: 10.1111/j.1600-0560.2010.01650.x. PMID: 21143617Free PMC Article

Clinical prediction guides

Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients.
Chasset F, Barete S, Charlotte F, Cohen-Aubart F, Arnaud L, Le Pelletier F, Emile JF, Francès C, Amoura Z, Haroche J
J Am Acad Dermatol 2016 Mar;74(3):513-20. Epub 2016 Jan 16 doi: 10.1016/j.jaad.2015.11.007. PMID: 26785805
Cerebral and Cutaneous Involvements of Xanthoma Disseminatum Successfully Treated with an Interleukin-1 Receptor Antagonist: A Case Report and Minireview.
Campero M, Campero S, Guerrero J, Aouba A, Castro A
Dermatology 2016;232(2):171-6. Epub 2016 Jan 8 doi: 10.1159/000442522. PMID: 26741816
The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim-Chester disease.
García-Gómez FJ, Acevedo-Báñez I, Martínez-Castillo R, Tirado-Hospital JL, Cuenca-Cuenca JI, Pachón-Garrudo VM, Álvarez-Pérez RM, García-Jiménez R, Rivas-Infante E, García-Morillo JS, Borrego-Dorado I
Eur J Radiol 2015 Aug;84(8):1586-1592. Epub 2015 Apr 30 doi: 10.1016/j.ejrad.2015.04.022. PMID: 25975897

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