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2016 ; 95
(42
): e5167
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Erdheim-Chester disease (ECD): Case report, clinical and basic investigations,
and review of literature
#MMPMID27759649
Adawi M
; Bisharat B
; Bowirrat A
Medicine (Baltimore)
2016[Oct]; 95
(42
): e5167
PMID27759649
show ga
BACKGROUND: Erdheim-Chester disease (ECD) is an uncommon aggressive, multisystem
form of non-Langerhans' cell histocytosis, which was firstly reported by Jakob
Erdheim and William chester in 1930. The disease pathological features encompass
an aberrant multiplication, overproduction and accumulation of white blood cells
called histiocytes within multiple tissues and organs. Herein, we present a case
of ECD owing to the rarity of this disease (roughly 550 cases have been described
in the literature to date). METHODS: We discussed the clinical course, diagnostic
evaluations, and the possible treatments. Our case was encountered in an Arab
male in his 30's who has suffered from an ongoing bones pain for years. RESULTS:
At our rheumatologic department we compiled his recent medical history, which
consisted of diagnosis of central diabetes insipidus, hyperprolactinemia and
secondary hypogonadism along with the previously conducted laboratory evaluations
and imaging which brought to our mind the possibility of an infiltrative disease
such as ECD. The diagnosis of ECD was done based on the combinations of
pathognomonic radiographic osteosclerosis, neuroimaging, bones biopsies along
with a careful clinical evaluation. Given the protean clinical manifestations,
interferon-? was considered as our first line treatment of ECD, consequently our
patient improved noticeably. CONCLUSION: Clinical presentation, imaging studies,
distinctive pathological findings, followed by bone biopsy showed a
non-Langerhans cell histiocytosis, supported by immunohistochemistry exams are
essential for the diagnosis. Radiation therapy and Bisphosphonates in addition to
cladribine, anakinra, infliximab and vemurafenib (BRAF Inhibitors) are currently
advocated as promising second line treatment for patients whose response to
interferon-? is unsatisfactory.