Rare form of erdheim-chester disease presenting with isolated central skeletal lesions treated with a combination of alfa-interferon and zoledronic Acid.

E N Bulycheva,G N Salogub,V V Baykov,M I Zaraĭskiĭ

doi:10.1155/2015/876752

E N Bulycheva, G N Salogub + Show 2 more

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https://doi.org/10.1155/2015/876752

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Abstract

Erdheim-Chester disease (ECD) represents a clonal non-Langerhans histiocytosis, which manifests under an extensive variety of clinical symptoms. This creates a challenge for the physician, who is required to recognize and diagnose the disease in the early stages. Despite this considerable challenge, in the last decade there has been a dramatic increase in ECD diagnoses, in most part due to an increasing awareness of this rare disorder. Involvement of the axial skeleton is exclusively uncommon with no official recommendations for the treatment of the bone lesions. Here, we present a case report of a young male patient with isolated lesions of the spine, ribs, and pelvis, who was successfully treated with a combination therapy of alfa-interferon and zoledronic acid.

Highlights

Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis of unknown etiology, characterized by focal or systemic tissue infiltration of foamy histiocytes, which have a particular tropism towards connective tissue
The PET-scan was repeated and revealed that smaller foci of increased FDG uptake persisted only in Th7–Th9, L1, and L3, with maximum SUV of 1.6. This affirmed a marked improvement in the course of this patient’s disease. This case report presents ECD diagnosed at an early stage with unusual spine and pelvic involvement, without extraskeletal manifestations
There is only one published case report where ECD occurs after acute lymphoblastic leukemia in childhood [5]

Summary

Introduction

Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis of unknown etiology, characterized by focal or systemic tissue infiltration of foamy histiocytes, which have a particular tropism towards connective tissue. These cells typically share the immunophenotype FXIIIa+, CD68+, CD163+, CD1a−, and S100−. The clinical picture ranges from mild asymptomatic infiltration to severe cases, which are sometimes life-threatening. It has been postulated that the prognosis of the patient is determined by the extent and the distribution of the extraskeletal manifestations of the disease; simultaneously, data recording the clinical progression of the patients with isolated bone lesions are lacking

Case Presentation

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