A Novel Histiocytosis With Synovial and Skin Involvement
Authors: Giulio Cavalli, Giacomo De Luca, Claudio Doglioni, Elisabetta Ferrero, Marina Ferrarini, Lorenzo Dagna
Journal: Annals of Internal Medicine (2020)

LettersFebruary 2021A Novel Histiocytosis With Synovial and Skin InvolvementGiulio Cavalli, MD, PhD, Giacomo De Luca, MD, Claudio Doglioni, MD, Elisabetta Ferrero, PhD, Marina Ferrarini, MD, and Lorenzo Dagna, MDGiulio Cavalli, MD, PhDVita-Salute San Raffaele University and San Raffaele Scientific Institute, Milan, Italy (G.C., G.D., C.D., L.D.)Search for more papers by this author, Giacomo De Luca, MDVita-Salute San Raffaele University and San Raffaele Scientific Institute, Milan, Italy (G.C., G.D., C.D., L.D.)Search for more papers by this author, Claudio Doglioni, MDVita-Salute San Raffaele University and San Raffaele Scientific Institute, Milan, Italy (G.C., G.D., C.D., L.D.)Search for more papers by this author, Elisabetta Ferrero, PhDSan Raffaele Scientific Institute, Milan, Italy (E.F., M.F.)Search for more papers by this author, Marina Ferrarini, MDSan Raffaele Scientific Institute, Milan, Italy (E.F., M.F.)Search for more papers by this author, and Lorenzo Dagna, MDVita-Salute San Raffaele University and San Raffaele Scientific Institute, Milan, Italy (G.C., G.D., C.D., L.D.)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/L20-0092 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: Histiocytoses are rare disorders characterized by tissue infiltration by macrophages, dendritic cells, or monocyte-derived cells (1). Different subtypes have been described, which collectively encompass a wide range of clinical manifestations from mild to disseminated or life-threatening forms. These diseases are classified into 5 groups based on histology, clinical phenotype, and molecular features: Langerhans-related, cutaneous or mucocutaneous, and malignant histiocytoses; Rosai–Dorfman disease; and hemophagocytic lymphohistiocytosis (1).Langerhans-related histiocytoses comprise Langerhans cell histiocytosis (LCH) and Erdheim–Chester disease (ECD), both inflammatory myeloid neoplasms characterized by clonal activating mutations along the mitogen-activated protein kinase or related pathways, most commonly BRAF V600E (1, 2).... References1. Emile JF, Abla O, Fraitag S; et al. Histiocyte Society. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood. 2016;127:2672-81. [PMID: 26966089] doi:10.1182/blood-2016-01-690636 CrossrefMedlineGoogle Scholar2. Allen CE, Merad M, McClain KL. Langerhans-cell histiocytosis. N Engl J Med. 2018;379:856-868. [PMID: 30157397] doi:10.1056/NEJMra1607548 CrossrefMedlineGoogle Scholar3. Cavalli G, Guglielmi B, Berti A; et al. The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases. Ann Rheum Dis. 2013;72:1691-5. [PMID: 23396641] doi:10.1136/annrheumdis-2012-202542 CrossrefMedlineGoogle Scholar4. Diamond EL, Dagna L, Hyman DM; et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124:483-92. [PMID: 24850756] doi:10.1182/blood-2014-03-561381 CrossrefMedlineGoogle Scholar5. Cavalli G, Dagna L, Biavasco R; et al. Erdheim-Chester disease: an in vivo human model of Mϕ activation at the crossroad between chronic inflammation and cancer. J Leukoc Biol. 2020;108:591-599. [PMID: 32056262] doi:10.1002/JLB.3MR0120-203RR CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Vita-Salute San Raffaele University and San Raffaele Scientific Institute, Milan, Italy (G.C., G.D., C.D., L.D.)San Raffaele Scientific Institute, Milan, Italy (E.F., M.F.)Grant Support: By grants from the ECD Global Alliance (Drs. Ferrarini and Dagna) and AIRC (MFAG 2018 - ID. 22136 project to Dr. Cavalli).Disclosures: Authors have disclosed no conflicts of interest. Forms can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L20-0092.Corresponding Authors: Giulio Cavalli, MD, PhD, Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), San Raffaele Scientific Institute, via Olgettina 60, Milan, 20132 Italy (e-mail, cavalli.[email protected]it), and Marina Ferrarini, MD, Division of Experimental Oncology, San Raffaele Scientific Institute, via Olgettina 60, Milan, 20132 Italy (e-mail, ferrarini.[email protected]it).This article was published at Annals.org on 8 September 2020. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byOncogene-induced maladaptive activation of trained immunity in the pathogenesis and treatment of Erdheim-Chester diseaseInterleukin-1 and Systemic Sclerosis: Getting to the Heart of Cardiac Involvement February 2021Volume 174, Issue 2Page: 273-274KeywordsCellsHistiocytesHistologyKneesLangerhans cellsLesionsMutationPhenotypesPositron emission tomographyProtein kinases ePublished: 8 September 2020 Issue Published: February 2021 Copyright & PermissionsCopyright © 2020 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...