Erdheim-Chester disease presenting with cutaneous involvement: a case report and literature review

Abstract

Erdheim-Chester disease (ECD) is a rare, systemic, non-familial histiocytic disorder, first described by Jakob Erdheim and William Chester in 1930. Most patients have multiple sites of involvement at presentation. The most common site of involvement is the long bones of the axial skeleton, which is seen almost universally, followed by the nervous system, heart, lungs, orbit and retroperitoneum, which are seen in up to 50% of cases. Cutaneous involvement is rarely a presenting symptom of ECD, with two reported cases in the English literature. The diagnosis of ECD is rarely made by skin biopsy because of the relative rarity of cutaneous involvement as a presenting feature, and also perhaps because of the difficulty in distinguishing the histopathological appearance from potential mimics. The importance of distinguishing ECD from other cutaneous disorders with similar pathology lies in the implications for both treatment and prognosis. ECD is an aggressive, often fatal disorder, with death from disease occurring in greater than 50% of patients.

Fig. 1

TC-MDP bone scan revealing characteristic bilateral symmetric uptake in the frontal skull, distal femurs, tibiae and ankles, as well as clavicular heads.

Fig. 2

A) Photograph of the cutaneous eruption showing browney macular and indurated papular eruption in chest, upper abdomen and upper extremities. B) Photograph of the eye revealing scleral and conjunctival brown infiltrates.

Fig. 3

A) Low-power magnification showing skin with dense superficial and deep xanthogranulomatous infiltrate and associated intervening fibrosis (H&E, original magnifications: ×2). B) Medium-power magnification showing dense superficial xanthogranulomatous infiltrate, including multinucleate Touton-like giant cells (H&E, original magnifications: ×20). C) Multinucleate Touton-like giant cells and associated intervening fibrosis (H&E, original magnifications: ×60).

Fig. 4

A) CD163 immunohistochemistry at ×20 magnification. B) CD68 immunohistochemistry at ×20 magnification. C) S-100 immunohistochemistry at ×20 magnification.