Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal
Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.
BMJ Case Rep. 2023 Apr 12;16(4):e254829. doi: 10.1136/bcr-2023-254829.
Sarcoidosis is a multisystemic disease, characterised by histopathologic presence of non-necrotising granulomas, primarily affecting the lungs (>90%). We present three cases predominantly characterised by uncommon extrapulmonary manifestations of sarcoidosis, where only one had pulmonary involvement. We describe three female patients, between the second and third decades of life, whose sarcoidosis was a diagnostic challenge due to their atypical extrapulmonary manifestations, from which we highlight: livedo reticularis and painful subcutaneous nodules with uncommon localisation, size and histology, being the first reported case of extensive subcutaneous nodules triggered by intramuscular penicillin; extensive symptomatic and refractory osseous involvement; and dispersed erythema nodosum affecting the entire body surface. All three patients required third-line treatment (antitumour necrosis factor agents) to achieve significant clinical and imagiological improvement. Through this case series, we highlight the importance of considering the rare and atypical presentations of sarcoidosis to avoid diagnostic delays and serious repercussions on the patient's prognosis.
结节病是一种多系统疾病,其特征为组织病理学上存在非坏死性肉芽肿,主要影响肺部(>90%)。我们报告了三个主要表现为罕见肺外结节病表现的病例,其中只有一个病例有肺部受累。我们描述了 3 名女性患者,年龄在第二和第三个十年之间,由于其非典型的肺外表现,结节病的诊断具有挑战性,其中突出表现为:网状青斑和疼痛性皮下结节,具有罕见的位置、大小和组织学,这是首例由肌肉内青霉素注射引起的广泛皮下结节的报告;广泛的症状性和难治性骨受累;以及广泛分布的结节性红斑累及整个体表面积。所有 3 名患者都需要三线治疗(抗肿瘤坏死因子制剂)才能获得显著的临床和影像学改善。通过这个病例系列,我们强调了考虑结节病罕见和非典型表现的重要性,以避免诊断延迟和对患者预后产生严重影响。