title: 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.
authors.affiliation: Department of Ophthalmology, Otorhinolaryngology, and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil. aavecruz@fmrp.usp.br
authors.forename: Antonio Augusto V
authors.initials: AA
authors.lastname: Cruz
authors.forename: Victor Marques
authors.initials: VM
authors.lastname: de Alencar
authors.forename: Marcele Fonseca
authors.initials: MF
authors.lastname: Falcão
authors.forename: Jorge
authors.initials: J
authors.lastname: Elias
authors.forename: Fernando
authors.initials: F
authors.lastname: Chahud
mesh_terms: D000328:Adult; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D003937:Diagnosis, Differential; D031249:Erdheim-Chester Disease / Q000150:complications* / Q000175:diagnosis; D005260:Female; D005500:Follow-Up Studies; D050031:Hashimoto Disease / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D009915:Orbit / Q000000981:diagnostic imaging / Q000473:pathology; D012187:Retroperitoneal Space / Q000000981:diagnostic imaging / Q000473:pathology; D013921:Thrombocytopenia / Q000150:complications* / Q000175:diagnosis; D014057:Tomography, X-Ray Computed