Vasenina Valentina, Cibull Thomas, Stadlan Noam
Neurosurgery, University of Chicago, Chicago, USA.
Pathology and Laboratory Services, NorthShore University HealthSystem, Evanston, USA.
Cureus. 2020 Oct 16;12(10):e10982. doi: 10.7759/cureus.10982.
Brooke-Spiegler syndrome (BSS) is a rare hereditary autosomal dominant disorder with variable phenotypic expressivity that results in a variety of benign cutaneous face, scalp, and neck tumors with a histology profile of cylindroma, spiradenoma and trichoepithelioma. Reports of lymph node and distant metastasis are scarce. We present the first case of Brooke-Spiegler syndrome with metastasis to the cervical spine. An 86-year-old female with Brooke-Spiegler syndrome presented to the clinic with a finding of cervical spine lesion involving vertebral body, prevertebral, paraspinal, foraminal, and epidural spaces. The histopathology of the lesion showed benign cylindroma. Considering the location of the lesion and local invasion of neural structures, the malignant transformation of existing tumors could not be excluded. Brooke-Spiegler syndrome rarely presents with malignant transformation and distant metastatic spread. It is important to be aware of these rare cases while monitoring the disease and addressing clinical symptoms. This is to our knowledge the first case of metastatic spread of the cylindroma to the cervical spine resulting in local bone destruction and neural elements compromise. Physicians should be aware of this rare possibility.
布鲁克-施皮格勒综合征(BSS)是一种罕见的常染色体显性遗传性疾病,具有可变的表型表达,可导致多种良性皮肤面部、头皮和颈部肿瘤,其组织学特征为圆柱瘤、螺旋腺瘤和毛发上皮瘤。关于淋巴结转移和远处转移的报道很少。我们报告首例布鲁克-施皮格勒综合征转移至颈椎的病例。一名86岁患有布鲁克-施皮格勒综合征的女性到诊所就诊,检查发现颈椎病变累及椎体、椎前、椎旁、椎间孔和硬膜外间隙。病变的组织病理学显示为良性圆柱瘤。考虑到病变的位置以及神经结构的局部侵犯,不能排除现有肿瘤发生恶变。布鲁克-施皮格勒综合征很少出现恶变和远处转移扩散。在监测疾病和处理临床症状时,了解这些罕见病例很重要。据我们所知,这是首例圆柱瘤转移至颈椎导致局部骨质破坏和神经结构受损的病例。医生应意识到这种罕见的可能性。