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一名唐氏综合征患者的喉浆细胞瘤

Laryngeal plasmacytoma in a patient with Down's syndrome.

作者信息

Hodroj Hassan, Saker Zahraa, Al Najjar Zahraa, Choukr Hassane, El Moussaoui Mohamad Reda Noureddine

机构信息

Lebanese University, Faculty of Medical Sciences, Otolaryngology-Head and Neck Surgery Department, Beirut, Lebanon.

Al-Rassoul Al-Aazam Hospital, Research Department, Beirut, Lebanon.

出版信息

Autops Case Rep. 2024 Aug 2;14:e2024508. doi: 10.4322/acr.2024.508. eCollection 2024.

Abstract

Extramedullary plasmacytoma is a rare localized plasma cell neoplasm typically found in soft tissues outside the bone marrow. Predominantly occurring in the head and neck region, particularly in the sinonasal and nasopharyngeal areas, it presents a diagnostic challenge due to its uncommon nature. Herein, we report a 38-year-old female patient with Down's syndrome with a 2-year complaint of intermittent dysphonia, hoarseness, and progressive respiratory distress, including dyspnea, fatigue, and biphasic stridor. Examination via flexible laryngoscopy revealed a white lesion, prompting direct microscopic laryngeal surgery to excise a 1x1 cm mass. Histological findings confirmed the diagnosis as solitary extramedullary plasmacytoma. Notably, this represented the first documented case of laryngeal solitary extramedullary plasmacytoma in a patient with Down's syndrome. This case underscores the importance of considering tumor development in the larynx among individuals with Down's syndrome, highlighting the necessity for tailored management strategies to address such occurrences effectively. Increasing awareness of this association can aid in early detection and appropriate treatment of tumors in this population.

摘要

髓外浆细胞瘤是一种罕见的局限性浆细胞肿瘤,通常发生在骨髓外的软组织中。主要发生在头颈部区域,尤其是鼻窦和鼻咽部,因其罕见性而带来诊断挑战。在此,我们报告一名38岁患有唐氏综合征的女性患者,有2年间歇性声音嘶哑、嗓音沙哑及进行性呼吸窘迫的主诉,包括呼吸困难、乏力和双相性喘鸣。经软性喉镜检查发现一个白色病变,促使进行直接喉镜显微手术切除一个1×1厘米的肿物。组织学检查结果确诊为孤立性髓外浆细胞瘤。值得注意的是,这是文献记载的首例唐氏综合征患者发生的喉部孤立性髓外浆细胞瘤。该病例强调了在唐氏综合征患者中考虑喉部肿瘤发生的重要性,突出了制定针对性管理策略以有效应对此类情况的必要性。提高对这种关联的认识有助于该人群肿瘤的早期检测和恰当治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8694/11340819/ec3176c50bd5/autopsy-14-e2024508-g01.jpg

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