Histiocytosis

Med Clin (Barc). 2023 Aug 25;161(4):166-175. doi: 10.1016/j.medcli.2023.05.001. Epub 2023 May 30.
[Article in English, Spanish]

Abstract

Histiocytosis is a group of rare diseases characterized by inflammation and accumulation of cells derived from monocytes and macrophages in different tissues. The symptoms are highly variable, from mild forms with involvement of a single organ to severe multisystem forms that can be life compromising. The diagnosis of histiocytosis is based on the clinic, radiological findings and pathological anatomy. A biopsy of the affected tissue is recommended in all cases as it may have therapeutic implications. During the last decade, some mutations have been identified in the affected tissue that condition activation of the MAPK/ERK and PI3K/AKT pathway, in a variable proportion depending on the type of histiocytosis. In this review we mainly focus on Langerhans Cell Histiocytosis, Erdheim-Chester Disease and Rosai-Dorfman Disease.

Keywords: BRAF V600E; Erdheim-Chester; Histiocitosis; Histiocytosis; Langerhans; Rosai-Dorfman.

Publication types

  • Review

MeSH terms

  • Erdheim-Chester Disease* / diagnosis
  • Erdheim-Chester Disease* / therapy
  • Histiocytosis, Langerhans-Cell* / diagnosis
  • Histiocytosis, Langerhans-Cell* / therapy
  • Histiocytosis, Sinus*
  • Humans
  • Mutation
  • Phosphatidylinositol 3-Kinases

Substances

  • Phosphatidylinositol 3-Kinases