Erdheim-Chester disease: Study of 12 cases

Montserrat Juanós Iborra, Albert Selva-O'Callaghan, Javier Solanich Moreno, Antonio Vidaller-Palacin, Salvador Martí, Josep Maria Grau Junyent, Miquel Vilardell Tarrés

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7 Citations (Scopus)

Abstract

Background and objective: Erdheim-Chester disease (EC) is a rare form of non-Langerhans' cell histiocytosis. It is characterized by the xanthomatous infiltration of tissues with foamy CD68+/CD1a- histiocytes. We report a series of 12 patients diagnosed with EC. Patients and methods: We reviewed the clinical, pathological and therapeutic aspects of 12 cases diagnosed with EC at 7 tertiary teaching hospitals in Spain. Patients were included if tissue infiltration by histiocytes CD68+/CD1a- could be demonstrated in an appropriate clinical setting. Results: Twelve patients (7 male) were included. Median follow-up was 36 months (IQR: 20-84). The median age at the time of clinical onset and pathological diagnosis was 49 (IQR: 28-61) and 56 years (IQR: 37-62), respectively. In 6 cases multiples biopsies were performed (skin, muscle, testicular) previous to diagnosis, which was confirmed in 3 cases after a carefully review of pathological tissues. Neurological involvement was independently associated with mortality (P <.05). Characteristic long bone osteosclerosis was detected in 9 patients. Conclusion: EC is a multisystemic and heterogeneous clinicopathological condition. A high index of suspicion and fluent communication between clinicians and pathologists is necessary to achieve a correct diagnosis. © 2011 Elsevier España, S.L. All rights reserved.
Original languageEnglish
Pages (from-to)398-403
JournalMedicina Clinica
Volume139
Issue number9
DOIs
Publication statusPublished - 13 Oct 2012

Keywords

  • Erdheim-Chester disease
  • Interstitial lung disease
  • Neurohypophisitis
  • Non-Langerhans' cell histiocytosis
  • Orchitis
  • Osteosclerosis
  • Periaortitis

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