Association Between Erdheim-Chester Disease, Hashimoto Thyroiditis, and Familial Thrombocytopenia

Abstract

A 28-year-old woman presented with progressive proptosis of the left eye. She had a history of familial thrombocytopenia and Hashimoto thyroiditis. CT of the orbits demonstrated a bilateral diffuse intraconal and extraconal infiltration. Biopsy from the left intraconal area revealed the typical histopathology of xanthogranuloma with a mixture of foamy histiocytes, Touton giant cells, and eosinophils. Systemic examination revealed a mediastinal and retroperitoneal infiltration with a focal lesion in the left kidney. A biopsy of the retroperitoneal area showed histopathology identical to that of the orbital lesion. A review of the literature indicated that the association between non-Langerhans histocytoses and immunologic dysfunctions is not uncommon. We hypothesize that Erdheim-Chester disease may be linked to an abnormal interaction between T-lymphocytes and macrophages similarly to the macrophage activation syndromes.

Systemic Erdheim–Chester disease

“…She also had diabetes mellitus, presumably because of widespread pancreatic replacement and/or chronic pancreatitis. The second patient had lymphocytic thyroiditis; a link between hyopothyroidism and ECD has previously been proposed [8]. Prognosis in ECD appears to be based on the extent of extraosseous involvement [28], and in both of our cases, the clinical course progressed rapidly to death.…”

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

“…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.…”

“…Histiocytes exhibit positive expression of CD68 and are negative for CD1a and S-100, differentiating this disease from Langerhans cell histiocytosis. [4] These lesions are infiltrative, found to completely replace the orbital fat, and may extend into the extraocular muscles and optic nerve. 18 ECD has a very poor overall prognosis with one case series reporting the death of 22 of 37 patients (59%) within an average follow-up period of 32 months.…”

Azathioprine and prednisone combination treatment for adult periocular and orbital xanthogranulomatous disease

“…Dermatologists tend to treat NBX with more aggressive cytotoxic drugs such as cyclophosphamide, chloroambucil and melphalan. Because immunosuppression with the least toxic drug is preferable, azathioprine is proposed as a good alternative (Karcioglu et al 2003;Meyer et al 2005;Cruz et al 2006;Oumeish et al 2006;Sivak-Callcott et al 2006;Torabian et al 2006).…”