Erdheim-Chester Disease

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Günay M. B. , Baykal C.

in: Skin and the Heart, 2021, Carmen Salavastru,Dedee F. Murrell,James Otton, Editor, Springer, London/Berlin , Zürich, pp.467-474, 2021

  • Publication Type: Book Chapter / Chapter Vocational Book
  • Publication Date: 2021
  • Publisher: Springer, London/Berlin 
  • City: Zürich
  • Page Numbers: pp.467-474
  • Editors: Carmen Salavastru,Dedee F. Murrell,James Otton, Editor


Erdheim-Chester disease (ECD) is a rare chronic systemic disorder with nonspecific skin involvement, formerly included in the non-Langerhans cell histiocytosis group [1]. However, in the recent revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages, ECD is classified in the “Langerhans-related group”[2] due to its clonal mutations involving genes of RASRAF-MEK-ERK protein kinase pathways in more than 80% of the patients similar to Langerhans cell histiocytosis. The heterogenous manifestations of ECD caused by infiltration of histiocytes on many organs may vary from an indolent focal disease to a life-threatening multisystemic disease [3]. The skeleton, central nervous system (CNS), cardiovascular system (CVS), lungs, orbits, kidneys, pituitary gland and skin are cited among the more common sites of involvement. However, testes, thyroid and lymph node involvement have also been reported [4]. Hence, ECD may await interest of different specialities including cardiologists and dermatologists.