Maffucci syndrome characterized by A/E -
Ans. is 'd' i.e., Hamartomaso Maffucci syndrome is an extremely rare disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities and cutaneous lesions composed of abnormal blood vessels.o Maffucci syndrome is not recognizable at birth. Lesions usually develop early in childhood, most often between 1- 5 years of age. The severity of the disorder is variable. Some patients have a very benign course, whereas others develop serious complications.Maffucci syndrome||Enchondroma SyndromeVascular lesions(Cavernous hemangiomas)Chondrosarcomao The first sign of Maffucci syndrome is usually finding an enchondroma in a long bone.o Distort and weaken the affected bones.o Thus initial presentation with a pathologic fracture is common.o Cause bulging of the bones.o Bowing of the arms and legs.o Disproportionate (asymmetric) growth (different lengths of the arms or legs).o The patient may exhibit short stature in adulthood.o Affect only one side of the body in approximately 40percent of patients.o Often progressive.o Begin as compressible, round, bluish spots.o In time, they become firm, knotty, warty, and often contain calcium stones (phleboliths).o The hand is the most common locationo Can also occur in internal structures, such as the membranes that cover the brain and spinal cord (meninges), the tongue, and the oral mucosa.o They are comprised of abnormally- formed veins so that the more modern term is "venous malformationo "Spindle cell hemangioma, " often arises in these malformed veins.o Malignant tumor, of cartilage known as "chondrosarcoma."o The more enchondromas, the higher the risk of malignancy,o Frequency has been estimated to be between 15-40 %.o The cause of Maffucci syndrome was discovered to be a mutation in a gene known as IDH1 (rarely IDH2).
Enchondromas
Cavernous remangioma
Chondrosarcoma
Hamartomas
Oncology