title: Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients.
abstract: BACKGROUND
  Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with possible cutaneous-specific involvement.
  
  
  OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Some clinical data were not available because of the retrospective design of the study.
  
  
  CONCLUSIONS
  XLL are the most frequent cutaneous ECD manifestations and might be targeted both for pathology and determination of BRAF mutational status.
authors.affiliation: E3M Institute, Service de Medecine Interne 2, French National Reference Center for Rare Systemic and Autoimmune Diseases, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France; Unit of Dermatology, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France; Department of Dermatology and Allergology, AP-HP, Hôpital Tenon, Paris, France.
authors.forename: François
authors.initials: F
authors.lastname: Chasset
authors.affiliation: Unit of Dermatology, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France; Department of Dermatology and Allergology, AP-HP, Hôpital Tenon, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Université Paris VI, Paris, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Barete
authors.affiliation: Department of Pathology, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Université Paris VI, Paris, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Charlotte
authors.affiliation: E3M Institute, Service de Medecine Interne 2, French National Reference Center for Rare Systemic and Autoimmune Diseases, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Université Paris VI, Paris, France.
authors.forename: Fleur
authors.initials: F
authors.lastname: Cohen-Aubart
authors.affiliation: E3M Institute, Service de Medecine Interne 2, French National Reference Center for Rare Systemic and Autoimmune Diseases, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Université Paris VI, Paris, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Arnaud
authors.affiliation: Department of Pathology, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France; Tolbiac Pathology Department, Cabinet de Pathologie Tolbiac, Paris, France.
authors.forename: François
authors.initials: F
authors.lastname: Le Pelletier
authors.affiliation: Department of Pathology AP-HP, Hôpital Ambroise Paré, Paris, France; EA4340, Université de Versailles, Versailles, France.
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Emile
authors.affiliation: Department of Dermatology and Allergology, AP-HP, Hôpital Tenon, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Université Paris VI, Paris, France.
authors.forename: Camille
authors.initials: C
authors.lastname: Francès
authors.affiliation: E3M Institute, Service de Medecine Interne 2, French National Reference Center for Rare Systemic and Autoimmune Diseases, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Université Paris VI, Paris, France.
authors.forename: Zahir
authors.initials: Z
authors.lastname: Amoura
authors.affiliation: E3M Institute, Service de Medecine Interne 2, French National Reference Center for Rare Systemic and Autoimmune Diseases, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Université Paris VI, Paris, France. Electronic address: julien.haroche@psl.aphp.fr.
authors.forename: Julien
authors.initials: J
authors.lastname: Haroche
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D031249:Erdheim-Chester Disease / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D012871:Skin Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D055815:Young Adult
keywords: BRAF(V600E); Erdheim-Chester disease; Langerhans cell histiocytosis; cutaneous manifestations; skin biopsy; xanthelasma palpebrarum