Erdheim-Chester Disease Presenting as Bilateral Clinically Malignant Breast Masses

Abstract

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis of unknown etiology, the commonest sites of involvement being the long bones, skin, orbit, pituitary and retroperitoneum. Breast involvement is rare, with only four reported cases in the English literature. We present a case of a 78-year-old female presenting with bilateral clinically malignant breast masses, with mammographic and ultrasound findings suggestive of locally advanced bilateral breast cancer. Core biopsies from both breasts showed identical features, with a diffuse xanthomatous infiltrate with scattered Touton-type giant cells and a patchy lymphocytic infiltrate. The cells were CD68 positive, and negative for S100, CD1a and a broad panel of cytokeratins. The patient has a background history of cerebrovascular disease with carotid artery stenosis, and subsequently developed rapid restenosis after carotid endarterectomy. With the combined clinical history and classic histological findings in the breast, a diagnosis of Erdheim-Chester disease was made. This is the fifth case report of Erdheim-Chester disease involving the breast, and only the second case with breast lesions as the presenting symptom. Perivascular infiltration is also a rare but recognized presentation of Erdheim-Chester disease. Histiocytic proliferations including ECD can mimic breast carcinoma clinically, radiologically, and histologically, and should be considered in the differential diagnosis of breast mass lesions.

Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease

“…22,25,46 These abnormalities tend to be gadolinium-enhancing and may be mistaken for primary or metastatic tumors, demyelinating disease, inflammatory processes, or leukodystrophies. 28,29 Similar intracranial lesions have been reported in JXG. 47 Infiltrative CNS lesions in LCH have similar distribution and radiographic appearances to lesions in ECD, with the exception of meningeal lesions, which are more expansile in ECD, and the spinal cord, which is spared in LCH.…”

“…As mentioned, ECD shares clinical features with LCH (Table 2) but bears little clinical similarity to other non-LCH histiocytoses, with the exception of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). 24,25 Although infiltration of nearly every organ system has been reported in ECD, [26][27][28][29][30][31] the tissues most commonly affected include the skeleton, retroperitoneum, and orbit in addition to the cardiovascular, pulmonary, neurologic, and endocrine systems ( Figure 3). Below is a discussion of the organ systems affected by ECD with a consideration of the differential diagnosis for each regional presentation.…”

Erdheim–Chester Disease

“…Autopsy has revealed the involvement of testes, thyroid, and lymph node [37]. There as also numerous case reports describing breast infiltration [38,39].…”

Mesenchymal tumours of the breast and their mimics: a review with approach to diagnosis

“…The breast lesions were the presenting clinical manifestation of the disease for two patients and bilaterality was seen in one patient, with mammographic and ultrasound findings suggestive of locally advanced bilateral breast cancer. 154,155 Erdheim-Chester disease is in part a radiological diagnosis, and the majority of patients with mammary involvement showed either previous or subsequent classic radiological findings of bilateral symmetrical sclerotic lesions in the long bones. Histologically, diffuse infiltration by histiocytes with abundant foamy cytoplasm and small, regular nuclei are seen.…”