Moccia Livio G, Castaldo Sabrina, Sirignano Emanuela, Napolitano Maddalena, Barra Enrica, Sanduzzi Alessandro
Division of Pneumology, Department of Clinical Medicine and Surgery, University "Federico II" Medical School, Naples, Italy.
Division of Dermatology, Department of Clinical Medicine and Surgery, University "Federico II" Medical School, Naples, Italy.
Multidiscip Respir Med. 2016 Jun 29;11:27. doi: 10.1186/s40248-016-0064-1. eCollection 2016.
Sarcoidosis is a systemic granulomatous disease of unknown origin, characterized by the formation of granulomas without central necrosis. Each organ and tissue can be affected by the disease, but in most cases mainly the lungs and mediastinal lymph nodes but also skin, heart, eyes and joints are involved, the latter are mainly the metacarpophalangeal joints and bone lesions are often associated with involvement of the overlying skin. The diagnosis is often of exclusion, based on clinical and radiological suspicion, and should be confirmed by biopsy, although in each case it is necessary to exclude other possible causes of granulomatosis, including infections by mycobacteria. Here it is reported a case of particularly aggressive sarcoidosis with primitive involvement of the small joints of the hands and feet, and mediastinal lymph nodes.
The subject, a man, 60 years old, born in Morocco but living in Italy for many years, presented important involvement of bone structures and soft periarticular tissue, and was affected by the formation of granulomas without "caseum necrosis". The painful symptoms and the skin ulceration had led to surgical amputation of the distal phalanges of most fingers of his hands and feet, but with subsequent resurgence of lesions in acral locations after surgery. The PET/CT scan showed an amount of radiotracer in mediastinal lymph nodes, while the lymph nodes sampled by TBNA were normal and the CD4/CD8 ratio was less than 3 in the bronchoalveolar lavage. We ruled out any possible infectious cause, including mycobacterial infection (both tubercular and atypical), so the patient was treated with systemic corticosteroids, with an excellent clinical and radiological response.
Such a case shows how the disease can have variable expressions, without primitive lung involvement; therefore, it should be necessary to consider any possible, unpredictable localization of the disease.
结节病是一种病因不明的全身性肉芽肿性疾病，其特征是形成无中央坏死的肉芽肿。每个器官和组织都可能受到该疾病影响，但在大多数情况下主要是肺和纵隔淋巴结，皮肤、心脏、眼睛和关节也会受累，后者主要是掌指关节，且骨病变常伴有上方皮肤受累。诊断通常是排除性的，基于临床和影像学怀疑，并且应通过活检确诊，尽管在每种情况下都有必要排除肉芽肿病的其他可能原因，包括分枝杆菌感染。本文报道了一例特别侵袭性的结节病病例，首发累及手足小关节和纵隔淋巴结。
患者为一名60岁男性，出生于摩洛哥，但在意大利生活多年，主要表现为骨结构和关节周围软组织受累，并形成无“干酪样坏死”的肉芽肿。疼痛症状和皮肤溃疡导致其手足多数手指的远端指骨被手术截肢，但术后肢端部位病变复发。PET/CT扫描显示纵隔淋巴结有一定量的放射性示踪剂，而经支气管针吸活检采集的淋巴结正常，支气管肺泡灌洗中CD4/CD8比值小于3。我们排除了任何可能的感染原因，包括分枝杆菌感染（结核和非典型），因此该患者接受了全身糖皮质激素治疗，临床和影像学反应良好。
该病例表明该疾病可表现多样，首发时可不累及肺部；因此有必要考虑该疾病任何可能的、不可预测的发病部位。
