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

François Chasset; Stéphane Barete; Frédéric Charlotte; Fleur Cohen-Aubart; Laurent Arnaud; François Le Pelletier; Jean-François Emile; Camille Francès; Zahir Amoura; Julien Haroche

doi:10.1016/j.jaad.2015.11.007

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

J Am Acad Dermatol. 2016 Mar;74(3):513-20. doi: 10.1016/j.jaad.2015.11.007. Epub 2016 Jan 16.

Affiliations

¹ 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.
² 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.
³ 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.
⁴ 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.
⁵ 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.
⁶ Department of Pathology AP-HP, Hôpital Ambroise Paré, Paris, France; EA4340, Université de Versailles, Versailles, France.
⁷ Department of Dermatology and Allergology, AP-HP, Hôpital Tenon, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Université Paris VI, Paris, France.
⁸ 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.

PMID: 26785805
DOI: 10.1016/j.jaad.2015.11.007

Abstract

Background: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with possible cutaneous-specific involvement.

Objectives: 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.

Limitations: 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.

Keywords: BRAF(V600E); Erdheim-Chester disease; Langerhans cell histiocytosis; cutaneous manifestations; skin biopsy; xanthelasma palpebrarum.

MeSH terms

Adult
Aged
Aged, 80 and over
Erdheim-Chester Disease / complications*
Female
Humans
Male
Middle Aged
Retrospective Studies
Skin Diseases / diagnosis
Skin Diseases / etiology*
Skin Diseases / genetics
Young Adult