Brooke-Spiegler Syndrome With Cervical Spine Lesion

Abstract

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.

Keywords: adenoid cystic; carcinoma; epidural space; hereditary skin neoplasms; sweat gland neoplasms.

Figure 1. Left: Sagittal T2-weighted image of the cervical spine showing soft tissue mass invading C7 vertebral body and spinous process (arrow). Right: Axial post-contrast T1 weighted image of the cervical spine showing tumor extension into C67 neural foramen (arrow).

Figure 2. Needle biopsy tract (arrow).

Figure 3. Cylindroma. Tumor comprised of small basaloid cells admixed with some larger cells. There are scattered small, duct-like structures (arrow).