Adult orbital xanthogranulomatous disease (AOXGD) is a spectrum of histiocytoses with four subtypes. Mitogen-activated protein kinase (MAPK) pathway mutations have been detected in various histiocytic neoplasms, little is known about this in AOXGD. Targeted regions of cancer- and histiocytosis-related genes were analyzed and immunohistochemical staining of phosphorylated ERK (pERK), cyclin D1 and PU.1 was performed in 28 AOXGD and 10 control xanthelasma biopsies to assess MAPK pathway activation. Mutations were detected in 7/28 (25%) patients. Positive staining for pERK and/or cyclin D1 was found across all subtypes in 17/27 (63%) patients of whom 12/17 (71%) did not harbour a mutation. Xanthelasma tissue stained negative for pERK and cyclin D1. Relapse occurred in 5/7 (71%) patients with a MAPK pathway mutation compared to 8/21 (38%) patients in whom no mutation could be detected. Molecular analysis and evaluation for systemic disease is warranted to identify patients at risk of recurrent xanthomatous disease.

This article describes a rare case of necrotic xanthogranuloma in a 46-year-old patient who presented with the development of periorbital xanthelasms, progressive bilateral sensorineural hearing loss and bilateral vestibulopathy, followed by multiple myeloma and amyloidosis. For several years, the patient underwent standard rehabilitation for chronic sensorineural hearing loss and was fitted with a hearing aid. During hospitalisation for exacerbation of chronic bronchitis, monoclonal gammopathy was identified, and later, after careful examination and repeated biopsies, necrotic xanthogranuloma, multiple myeloma and AL-amyloidosis were confirmed. Targeted immunochemotherapy resulted in improvement of hearing and significant recovery of the vestibuloocular reflex bilaterally.
В статье представлен редкий случай некротической ксантогранулемы у пациента 46 лет, дебютировавшей с развития периорбитальных ксантелазм, прогрессирующей двусторонней сенсоневральной тугоухости и двусторонней вестибулопатии с последующим развитием множественной миеломы и амилоидоза. В течение нескольких лет пациент проходил стандартную реабилитацию по поводу хронической сенсоневральной тугоухости, слухопротезирован. Во время стационарного лечения по поводу обострения хронического бронхита выявлена моноклональная гаммапатия. В дальнейшем при тщательном обследовании и неоднократном взятии биопсийного материала верифицированы некротическая ксантогранулема, множественная миелома и AL-амилоидоз. В результате проведения таргетной иммунохимиотерапии удалось добиться улучшения слуховой функции и значительного восстановления вестибулоокулярного рефлекса с двух сторон.

A 55-year-old male patient presenting with 6 months of bilateral difficulty in eye opening was referred to the ophthalmology department. Upon examination, multiple yellowish tumor-like plaques and nodules were observed on the eyelids and chest of the patient, accompanied by keratitis and iridocyclitis. Histopathological examination of the skin lesions on the chest revealed dermal xanthomatous granulomas with progressive necrosis. Bone marrow biopsy showed mantle cell lymphoma. Based on the medical history, the diagnosis of progressive necrotizing xanthogranuloma with mantle cell lymphoma was confirmed. After 6 months of treatment with bendamustine combined with rituximab, there was partial alleviation of ocular symptoms in the patient.
1例主诉为双眼睁眼困难半年的55岁男性患者就诊眼科，查体发现患者双眼眼睑、胸部多发性黄瘤样斑块和结节，并伴有角膜炎和葡萄膜炎。胸部皮损组织病理学检查示真皮内黄色瘤性肉芽肿伴渐进性坏死。骨髓活检示套细胞淋巴瘤。结合病史，确诊为渐进性坏死性黄色肉芽肿伴套细胞淋巴瘤。患者全身应用苯达莫司汀联合利妥昔单抗治疗6个月后眼部症状有所缓解。.

暂无摘要。

暂无摘要。

暂无摘要。

暂无摘要。

Necrobiotic xanthogranuloma is a rare disease that is part of the non-Langerhans cell histiocytoses. It is characterized by yellowish skin lesions, which are typically periorbitally localized. Extracutaneous manifestations of all organs are possible and can cause potentially life-threatening complications. The disease also belongs to the facultative paraneoplasias and is often associated with paraproteinemia. These aspects should be considered regarding further diagnostics. Due to the rarity of the disease, there are no standardized guidelines for therapy so far. The combination of prednisolone and chlorambucil as well as intravenous immunoglobulins seem to be effective therapeutic options. We present four cases from our clinic as well as the current results of the literature in this mini-review and would like to highlight the therapeutic challenge as well as the need for the development of guidelines.

UNASSIGNED: Necrobiotic xanthogranuloma (NXG) is a non-Langerhans cell histiocytosis and multisystem disorder. Low level of HDL cholesterol associated with a systemic inflammatory profile, which may result from the interaction of monoclonal immunoglobulin and lipoproteins, is a characteristic feature. There is no evidence of NXG-associated large-vessel vasculitis, nor are there any established treatments, although chemotherapy for comorbid multiple myeloma is most often administered.
UNASSIGNED: We describe a case of a 53-year-old male with a first history of heart failure with impaired systolic function. He presented with orbital xanthomas and multiple subcutaneous nodules, and laboratory examination showed elevated levels of C-reactive protein, low HDL, and paraproteinemia. A constellation of these clinical features and pathological findings of skin biopsy led to the diagnosis of NXG. 18F-Fluorodeoxyglucose positron emission tomography (PET)/computed tomography (CT) confirmed increased uptake in the aorta and bilateral common carotid arteries. He began prednisolone treatment with reference to treatment for large-vessel vasculitis. After the treatment, C-reactive protein immediately decreased with markedly increased levels of apolipoprotein A1 (Apo-A1) and HDL. Systolic dysfunction was restored at 6-month follow-up. The patient has not experienced heart failure for 5 years after treatment, and the follow-up PET/CT demonstrated resolution of vascular inflammation.
UNASSIGNED: This is the first report of NXG-associated large-vessel vasculitis. Low-dose prednisolone may benefit for NXG-associated vasculitis and cardiomyopathy. HDL, Apo-A1, and C-reactive protein levels may be useful for monitoring the activity of NXG, and PET/CT was a valuable diagnostic tool for NXG-associated vasculitis.

暂无摘要。