Chondroblastoma-like mass of the temporal bone, secondary aneurysmal bone cyst, and intracerebral hemorrhage in a patient with cardiofaciocutaneous syndrome: case report

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  • 1 Departments of Neurosurgery,
  • | 2 Pathology, and
  • | 3 Otolaryngology, University of Alabama at Birmingham, Alabama
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Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS. The relationship between malignancy risk and CFCS is unclear with few cases published in the literature. The purpose of this paper is to describe the case of a patient with CFCS presenting in extremis as a result of a large intracerebral hemorrhage arising from a temporal bone mass with histopathology most consistent with chondroblastoma and secondary aneurysmal bone cyst. This is the first case to document an association between CFCS and chondroblastoma.

ABBREVIATIONS

ABC = aneurysmal bone cyst; CBT = chondroblastoma; CFCS = cardiofaciocutaneous syndrome; MAPK = mitogen-activated protein kinase; MGCLS = multiple giant cell lesion syndrome.

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