Recurrent Chondrosarcoma of the Right Skull Base in a Patient with Maffucci Syndrome

Abstract

Maffucci syndrome is a rare, sporadic disease characterized by the development of multiple enchondromas and subcutaneous hemangiomas. Patients with Maffucci syndrome have a 23-37% risk of malignancy, with chondrosarcomas being the most common. Although the development of a chondrosarcoma in a patient with Maffucci syndrome may be expected, intracranial chondrosarcomas are rare. We present a patient with Maffucci syndrome who was diagnosed with an intracranial chondrosarcoma after presenting with hearing loss and vomiting. After three craniotomies and two recurrences of chondrosarcoma of the right skull base, the patient demonstrated a positive outcome to treatment with external radiation therapy.

Otolaryngologic manifestations of Maffucci's syndrome

“…Vascular anomalies associated with Maffucci's syndrome include venous, capillary, and lymphatic malformations, found in the skin or subcutaneous soft tissues, oropharynx, lungs, gastrointestinal tract, retroperitoneal space, and abdominal cavity [1,4,5]. These vascular lesions are usually quite numerous, typically blue or purple in color, occur in an asymmetric pattern around the body, and may be tender to palpation [4].…”

“…Enchondromas associated with Maffucci's syndrome preferentially affect the long bones of the extremities but may also involve the ribs, vertebrae, skull base, and trachea [1,2,5]. It is theorized that these lesions form when previously normal cartilage found in epiphyseal growth plates (ossification centers) or suture lines of the skull fail to undergo normal ossification or when embryological cartilaginous remnants at these same sites undergo malignant degeneration, resulting in deformities such as short stature, scoliosis, and pathologic fractures [4][5][6][7].…”

“…It is theorized that these lesions form when previously normal cartilage found in epiphyseal growth plates (ossification centers) or suture lines of the skull fail to undergo normal ossification or when embryological cartilaginous remnants at these same sites undergo malignant degeneration, resulting in deformities such as short stature, scoliosis, and pathologic fractures [4][5][6][7]. The underlying mechanism of the formation of the enchondromas is suspected to be a mutation in the Indian hedgehog/parathyroid hormone-related protein (IHH/PTHrP) pathway [4].…”

“…The underlying mechanism of the formation of the enchondromas is suspected to be a mutation in the Indian hedgehog/parathyroid hormone-related protein (IHH/PTHrP) pathway [4]. Cartilaginous lesions that continue to grow in size after normal skeletal growth has stopped, or complaints of pain, heaviness, and fatigue, should raise the suspicion of malignant transformation to chondrosarcoma, which is the most commonly encountered malignancy in Maffucci's syndrome [4,5]. These cartilaginous lesions can be seen on plain radiographs, CT, and/or MRI [2,4,6,7,8].…”

“…Histology typically demonstrates poorly differentiated pleomorphic chondrocytes with hypercellularity, hyperchromatism, or other cytological atypia, as well as loss of normal cartilaginous architecture [7,8]. The chondrosarcomas stain positive for vimentin and S100 on immunohistochemistry [5].…”