Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients

Journal of the American Academy of Dermatology
François ChassetJulien Haroche

Abstract

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with possible cutaneous-specific involvement. We sought to describe the clinical, pathological, and molecular features of the cutaneous manifestations of 40 patients with ECD identified from a cohort of 123 patients. Confirmed cases of patients with ECD were included in a single-center retrospective observational study. Clinical and pathological cutaneous features were analyzed and BRAF(V600E) mutation was determined. The most frequent ECD cutaneous manifestations were xanthelasma-like lesions (XLL), which occurred in 31 (25%) patients. Other ECD cutaneous lesions were patches or papulonodular lesions. Mixed form of ECD and cutaneous Langerhans cell histiocytosis presented with crusty papules of the folds in some patients. Compared with classic xanthelasma palpebrarum, ECD XLL pathology more frequently involved the reticular dermis, displayed more multinucleated or Touton cells, and showed less extensive fibrosis. BRAF(V600E) mutation was more frequently detected in patients with cutaneous involvement than in those without (76% vs 52%; P = .005) and constantly found in 10 XLL. Some clinical data were not available because of the retrospective desi...Continue Reading

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Citations

Dec 21, 2016·Respiratory Medicine Case Reports·Jessica M StempelClaudia Dourado
Jan 13, 2017·The British Journal of Dermatology·H-H SuS-J Shan
Jan 24, 2018·The British Journal of Dermatology·F Chasset, J Haroche
Feb 21, 2019·JAMA Dermatology·Jonathan A Braue, Rami N Al-Rohil
Dec 7, 2019·Current Rheumatology Reports·Matthias PapoJulien Haroche
May 24, 2019·The British Journal of Dermatology·A KobicUNKNOWN Mayo Clinic Histiocytosis Working Group
Apr 1, 2020·Annals of Clinical and Translational Neurology·Louisa C BoydRahul H Dave
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Feb 29, 2020·Blood·Julien HarocheZahir Amoura
Jun 28, 2020·Leukemia·Francesco PegoraroAugusto Vaglio
Dec 10, 2020·JAAD Case Reports·Rita PimentaLuís Soares-de-Almeida
Sep 14, 2020·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Neeta Garg, Efrat Saraf Lavi
Apr 27, 2021·Lancet·Jean-François EmileJulien Haroche
Jun 4, 2021·The Journal of Dermatology·Kazumasa OyaYasuhiro Fujisawa
Nov 20, 2021·The American Journal of Dermatopathology·Anurag SharmaWilma F Bergfeld
Nov 25, 2021·International Journal of Dermatology·Alberto J Saba-MussaliMaria E Vega-Memije
Dec 28, 2021·Histopathology·Sylvie Fraitag, Jean-Francois Emile

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