Erdheim-Chester disease: a bilateral orbital mass as an indication of systemic disease

Abstract

A case of bilateral orbital mass and xanthelasma of the eyelids is presented. Histology confirmed it to be a form of histiocytosis, possibly an Erdheim-Chester disease. This was further confirmed by the presence of a retroperitoneal mass and hydronephrosis, which resolved with treatment. A review of the literature on and pathological features of this rare fatal disease is presented.

Erdheim-Chester disease: A case report

“…Pericardial fibrosis was detected on MRI of the heart. CT and MRI of the abdomen and retroperitoneum showed diffuse thickening of the periand pararenal tissue, suggesting the presence of fibrosis [3,10,16]. This assumption was confirmed by a retroperitoneal biopsy, which demonstrated a mixed inflammatory cell infiltrate and extensive fibrous connective tissue.…”

“…A coexistence with diabetes insipidus has been described [9,12]. Orbital involvement typically consists of exophthalmos due to bilateral retrobulbar infiltration, while xanthelasma-like lesions of the eyelids may also be detected [1,3,20].…”

Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review

“…Of the reported cases, 5/19 described partial or total resection of orbital masses. 1,2,8,11 Three reported cases utilized surgical decompression for alleviation of orbital mass effect in addition to systemic therapy. 5,7,9 Our patient also underwent bilateral orbital decompression without significant improvement in her vision and with eventual progression of her orbital disease.…”

“…1 Imaging studies most commonly reveal bilateral, enhancing intraconal masses, however there may be extraconal lesions present as well. 1,2,4,8,11,17 Histopathology of orbital lesions show diffuse xanthogranulomatous findings including histiocytes, Touton giant cells, and fibrous tissue with clustered plasma cells, lymphocytes, and eosinophils. Histiocytes exhibit positive expression of CD68 and are negative for CD1a and S-100, differentiating this disease from Langerhans cell histiocytosis.…”

Enfermedad de Erdheim-Chester e histiocitosis de células de Langerhans: ¿Una asociación fortuita?

“…La infiltración del hipotálamo e hipófisis desencadena diversos trastornos endocrinológicos, entre los que cabe destacar la diabetes insípida, el hipogonadismo hipogonadotropo y el hipopituitarismo (6,7). La infiltración de los tejidos orbitarios provoca exoftalmos uni o bilateral y cuando se produce en los párpados da lugar a xantelasmas (8)(9)(10). La infiltración y subsiguiente fibrosis retroperitoneal puede comprometer los uréteres y condicionar una hidronefrosis (18) o bien desencadenar una coartación aórtica (11).…”