[Erdheim-Chester disease: study of 12 cases].
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.


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.


CONCLUSIONS
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.
Servicio de Medicina Interna, Hospital General Universitario Vall d'Hebron, Departamento de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain.
Montserrat
M
Juanós Iborra
Albert
A
Selva-O'Callaghan
Javier
J
Solanich Moreno
Antonio
A
Vidaller-Palacin
Salvador
S
Martí
Josep Maria
JM
Grau Junyent
Miquel
M
Vilardell Tarrés
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D057210:Delayed Diagnosis; D003951:Diagnostic Errors; D031249:Erdheim-Chester Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000401:mortality; D005260:Female; D005500:Follow-Up Studies; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D012189:Retrospective Studies
D005938:Glucocorticoids; D007166:Immunosuppressive Agents