Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients - 16/02/16

Doi : 10.1016/j.jaad.2015.11.007

François Chasset, MD ^a,^b,^d, Stéphane Barete, MD, PhD ^b,^d,^e, Frédéric Charlotte, MD ^c,^e, Fleur Cohen-Aubart, MD, PhD ^a,^e, Laurent Arnaud, MD, PhD ^a,^e, François Le Pelletier, MD ^c,^f, Jean-François Emile, MD, PhD ^g,^h, Camille Francès, MD ^d,^e, Zahir Amoura, MD, MSc ^a,^e, Julien Haroche, MD, PhD ^a,^e,^⁎
^a 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
^b Unit of Dermatology, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France
^c Department of Pathology, Assistance Publique Hôpitaux de Paris (AP-HP), Groupement Hospitalier Pitié-Salpêtrière, Paris, France
^d Department of Dermatology and Allergology, AP-HP, Hôpital Tenon, Paris, France
^e Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Université Paris VI, Paris, France
^f Tolbiac Pathology Department, Cabinet de Pathologie Tolbiac, Paris, France
^g Department of Pathology AP-HP, Hôpital Ambroise Paré, Paris, France
^h EA4340, Université de Versailles, Versailles, France

^∗Reprint requests: Julien Haroche, MD, PhD, E3M Institute, Service de Medecine Interne 2, French National Reference Center for Rare Systemic and Autoimmune Diseases, AP-HP, Groupement Hospitalier Pitié-Salpêtrière, Paris, France.Department of Internal Medicine 2French Reference Center for Systemic Lupus ErythematosusGroupe Hospitalier Pitié-Salpêtrière47-83 Bd de l’HôpitalParis75013France

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.

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Key words : BRAF^V600E, cutaneous manifestations, Erdheim-Chester disease, Langerhans cell histiocytosis, skin biopsy, xanthelasma palpebrarum

Abbreviations used : ECD, LCH, XLL, XP

Plan

Methods

Study design and setting

Eligibility criteria

Patient clinical and biological analysis

Pathological and immunohistochemical analysis

Statistical analysis

Results

Characteristics of ECD

Cutaneous involvement

Clinical and pathological features

Discussion

	Drs Chasset and Barete contributed equally to this work as co-first authors.
	Funding sources: None.
	Disclosure: Dr Emile participated on an advisory board for Roche. Drs Chasset, Barete, Charlotte, Cohen-Aubart, Arnaud, Le Pelletier, Francès, Amoura, and Haroche have no conflicts of interest to declare.

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Cutaneous manifestations of Erdheim-Chester disease (ECD): Clinical, pathological, and molecular features in a monocentric series of 40 patients - 16/02/16

Abstract

Background

Objectives

Methods

Results

Limitations

Conclusions

Plan

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