Erdheim-Chester disease in childhood: a challenging diagnosis and treatment.
Erdheim-Chester disease is a rare, non-Langerhans systemic histiocytosis characterized by bilateral sclerosis of the metaphyseal regions of the long bones and infiltration in other organs. The histopathologic hallmark is defined by a mononuclear infiltrate of foamy histiocytes and rare pathognomonic Touton giant cells with extensive fibrosis. This condition is exceptional in children. We report here a case of Erdheim-Chester disease in a 10-year-old girl with retroperitoneal infiltration and bone involvement, for whom the diagnosis was only established after a 3-year course with multiple biopsies. It is also the first pediatric case successfully treated with interferon-alpha suggesting that interferon-alpha can be a safe and efficient first-line therapy for this disease in children.
Tran
Tu-Anh
TA
Department of Pediatrics, Pediatric Rheumatology, Bicêtre University Hospital, Le Kremlin Bicêtre, France. tu-anh.tran@bct.aphp.fr
Fabre
Monique
M
Pariente
Daniele
D
Craiu
Irina
I
Haroche
Julien
J
Charlotte
Frederic
F
Eid
Pierre
P
Durrbach
Antoine
A
Taoufik
Yassine
Y
Kone-Paut
Isabelle
I
D001847:Bone Diseases; D002465:Cell Movement; D002648:Child; D031249:Erdheim-Chester Disease / Q000175:diagnosis* / Q000188:drug therapy*; D005260:Female; D006801:Humans; D016898:Interferon-alpha / Q000627:therapeutic use; D012074:Remission Induction
D016898:Interferon-alpha