The patient explained that years earlier, she’d been given a diagnosis of hereditary hemangiomatosis (Maffucci’s syndrome)—a rare genetic disorder characterized by hemangiomas and enchondromas involving the hands, feet, and long bones. The bone and vascular lesions of Maffucci’s syndrome exist at birth or develop during childhood. While the disorder is genetic, there is no familial pattern of inheritance.
Maffucci’s syndrome is associated with various benign and malignant tumors of the bone and cartilage. Patients with Maffucci’s syndrome often require multiple orthopedic surgeries for their enchondromatous deformities and for cosmetic purposes.
Patients with Maffucci’s syndrome should be monitored closely for both skeletal and nonskeletal tumors, particularly of the brain and abdomen. Fortunately this patient was free of internal tumors.
The FP completed the preventive care exam, including her Pap smear. She also suggested that the patient return if she had any signs or symptoms of new growths on her body.
Text for Photo Rounds Friday courtesy of Richard P. Usatine, MD. Photo courtesy of Tran Shellenberger, MD. This case was adapted from: Hitzeman N. Hereditary vascular lesions in adults. In: Usatine R, Smith M, Mayeaux EJ, et al, eds.The Color Atlas of Family Medicine. New York, NY: McGraw-Hill; 2009:865-868.
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