The Mafucci-Kast Syndrome. Dyschondroplasia with hemangiomas and frontal lobe astrocytoma.
The authors describe radiologic and pathoanatomic findings in the very rare Mafucci-Kast syndrome. In a 39-year-old Libyan patient multiple enchondromas of the fifth ray of the left hand were found with signs of malignant transformation. Furthermore, there were angiomas of the skin, of the soft meninges, and the bone. In addition, there was a low-grade malignant astrocytoma of the frontal lobe of the brain. Chromosome analysis revealed a normal male chromosome set. The tendency to develop malignant tumors which is repeatedly emphasized in the literature was also shown in the present case. The reason for this, especially for the high spontaneous rate of malignant transformation of multiple enchondromas, is unknown. The occurrence of angiomas and multiple enchondromas in cartilaginous performed bone suggests the presence of mesodermodysplasia.
D000328:Adult; D001254:Astrocytoma / Q000473:pathology*; D001859:Bone Neoplasms / Q000473:pathology*; D001932:Brain Neoplasms / Q000473:pathology*; D005625:Frontal Lobe; D006391:Hemangioma / Q000473:pathology*; D006801:Humans; D008297:Male; D008663:Metacarpus; D009378:Neoplasms, Multiple Primary / Q000473:pathology*; D010009:Osteochondrodysplasias / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology*; D013577:Syndrome