Chinese Erdheim-Chester disease: clinical-pathology-PET/CT updates
نویسندگان
چکیده
UNLABELLED Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell histiocytosis, has been rarely seen and is characterized by the accumulation of foamy CD68+CD1a- histiocytes. We reported a case of ECD and reviewed the clinical features of 13 cases of ECD reported so far in China. A 53-year-old male was diagnosed with central diabetes insipidus in March 2014, followed by fever, splenomegaly and anemia in July 2014. His initial pituitary magnetic resonance imaging (MRI) revealed the absence of high signal at T1-weighted image in posterior pituitary without any lesion. A further positron emission tomography/computer tomography (PET/CT) images showed elevated metabolic activity of (18)F-2-fluro-D-deoxy-glucose (FDG) and low (13)N-NH3 uptake in the posterior pituitary, and multi-organ involvement. Biopsy at right femur lesion revealed that granulomatous infiltration of foamy histiocytes and Touton giant cells surrounded by fibrosis tissues. Immunohistochemistry stain was positive for CD68, negative for CD207/Langerin and S-100. The diagnosis of ECD was confirmed and the treatment with pegylated interferon was effective. ECD was a possible immune-related disorder concluding from the IgG4 immunohistochemistry results. We summarized the pathological manifestations for ECD and its differential diagnosis from Langerhans cell histiocytosis (LCH) and Rosai-Dorfman disease (RDD). ECD should be considered by both pathologists and clinicians in the differential diagnosis when central diabetes insipidus is accompanied with multi-organ involvement, especially skeletal system involvement, or recurrent fever. LEARNING POINTS ECD should be considered when central diabetes insipidus is accompanied with multisystem involvement, especially symmetric/asymmetric bone lesions, or recurrent fever.PET/CT scanning was helpful for locating pituitary lesion, discovering multiple system involvement and indicating the biopsy sites.Conducting proper immunohistochemistry stains was important for diagnosing ECD. ECD might be correlated with immune disorder.
منابع مشابه
Complete remission of critical neurohistiocytosis by vemurafenib
OBJECTIVE To describe a patient with life-threatening brainstem neurohistiocytosis who recovered completely upon targeted treatment with the V600E mutation-specific BRAF inhibitor vemurafenib. METHODS We report clinical, histiologic, genetic, and sequential imaging findings, including fluorodeoxyglucose (FDG)-PET, over a follow-up period of 11 months. RESULTS The patient presented with cent...
متن کاملErdheim-Chester disease with epiphyseal and systemic disease.
A case of Erdheim-Chester disease which affected the epiphysis and showed evidence of systemic disease is presented. Clinical and histopathological similarities with other forms of disseminated Langerhans' cell histiocytosis are noted, particularly reaction of infiltrating histiocytes for S100 and HLA-DR.
متن کاملThe Imaging Findings of Erdheim–Chester Disease: A Multimodality Approach to Diagnosis and Staging
Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytic disorder. The most common manifestations consist of polyostotic sclerotic lesions with the majority of cases also demonstrating soft tissue involvement of the sinuses, retroperitoneum, large vessels, heart, lungs, and central nervous system. Nuclear medicine can play an important role in assessing the extent of the disease with...
متن کاملGastrointestinal Erdheim-Chester disease.
We report a rare case of Erdheim-Chester Disease, a non-Langerhans cell histiocytosis. A 60-year old female presented with a seven-month history of vague abdominal symptoms. A large retroperitoneal mass was detected on computed tomography (CT), but multiple CT-guided biopsy samples were inconclusive. Laparoscopy revealed a mass in the distal ileum, which was resected. Histology and immuno-histo...
متن کاملOrbital involvement in Erdheim-Chester disease.
Erdheim-Chester disease is a rare, idiopathic, non-Langerhans' cell, histiocytic disorder. To our knowledge this is only the second case of Erdheim-Chester disease reported in the Chinese population. We describe a 45-year-old woman presenting with unilateral proptosis and periorbital xanthelasma. Histopathological examination revealed a xanthogranulomatous lesion expressing CD68, but negative f...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
دوره 2015 شماره
صفحات -
تاریخ انتشار 2015