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

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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 BRAFV600E 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. BRAFV600E 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.

Section snippets

Study design and setting

We performed a single-center retrospective observational study that included patients with biopsy-proven ECD who were referred to dermatologists at the Internal Medicine Department of Pitié-Salpêtrière Hospital in Paris, France, during a 31-year period (1982 to December 2013).

Eligibility criteria

We reviewed records of all patients followed up in our center for ECD. ECD was diagnosed according to published criteria4: (1) a tissue biopsy specimen showing the typical pathological signs of ECD (infiltration with foamy

Characteristics of ECD

The clinical features of patients are summarized in Table I. Among 123 patients with ECD, 40 (32%) had cutaneous manifestations of histiocytosis. They were 27 men and 13 women (sex ratio [SR] 2.1), and median age at diagnosis was 51 (range 23-80) years. Among these 40 patients, 31 had isolated cutaneous ECD lesions and 9 had mixed histiocytosis involving both ECD and LCH manifestations. Patients with mixed histiocytosis had cutaneous manifestations from at least 1 type of histiocytosis (Table II

Discussion

Cutaneous involvement has been reported in around 20% of ECD cases in the literature14 and the clinical description has been mostly limited to XLL.10 To our knowledge, this study is the first to describe various cutaneous manifestations associated with ECD. Consistent with previous reports, we found that XLL were the most frequent cutaneous manifestations that occurred in 25% of ECD cases. These lesions presented as multiple yellowish patches most commonly located on the inner canthus of the

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  • Cited by (0)

    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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