Just a quick preface: I am NOT a licensed physician. I am a high school student who enjoys researching interesting medical phenomena. I just enjoy writing about medicine and science!
Maffucci syndrome is an incredibly rare disorder characterized by the presence of benign growths of cartilage called enchondromas, skeletal deformities, and cutaneous lesions composed of abnormal blood vessels. Maffucci syndrome is caused by a mutation on the IDH1 gene or less commonly the IDH2 gene. This is the same mutation found in those affected by Ollier disease. The difference between Ollier disease, or enchondromatosis, and Maffucci syndrome is that in Maffucci syndrome the tumors can occur as soft tissue hemangiomas which are not possible in Ollier disease. Maffucci syndrome is not considered hereditary and the cases occur randomly via a somatic mutation. The role of the IDH1 gene is that it provides instructions for making an enzyme called isocitrate dehydrogenase 1. Isocitrate dehydrogenase 1 is often found in the cytoplasm and in subcellular organelles called peroxisomes and is involved in a variety of metabolic reactions. IDH1 (the enzyme) is involved in lipid metabolism and glucose sensing. Specifically, in Maffucci syndrome, a type of cancer, a mutation occurs on the gene and therefore the enzyme is affected. Without divulging too much into complicated biochemistry, isocitrate dehydrogenase typically converts isocitrate to 2-ketoglutarate, but with the mutation the enzyme now produces D-2-hydroxyglutarate. This is what is called a gain of function mutation and there is a new product formed, D-2-hydroxyglutarate, which is associated with causing the Maffucci syndrome. Unfortunately, because of the rarity of the disease little is known about how the new product affects the manifestations of the tumors. Because the cancer is somatic, Maffucci syndrome is not recognizable at birth. Although, the cancerous lesions most often occur between the ages of 1-5. Oftentimes, the first sign of Maffucci syndrome is the presence of an enchondroma in a long bone. An enchondroma is a benign bone tumor that starts in the cartilage. These tumors weaken the bones that they surround. As a result, chronic fractures are a common presentation of Maffucci syndrome. These cartilaginous
tumors cause bulging bones, bowing of the arms and legs, and often cause asymmetric growth. In 40% of Maffucci syndrome patients, enchondromas only affect one side of the body. Another common symptom is vascular lesions, which occur during childhood and are progressive. These lesions do not necessarily occur near the bones affected by enchondromas. As the lesions develop, they become firm and often contain calcium stones. The most common location for these stones is on the hand however, they can occur in the spinal cord, tongue, and membranes that cover the brain. The lesions form what is known as venous malformations which often house spindle cell hemangioma. Patients with Maffucci syndrome are at an increased risk for developing a malignant tumor especially chondrosarcomas. As the patient develops more enchondromas, their risk for malignancy increases. The incidence for Maffucci syndrome is unknown as since it was first documented in 1881 there have been fewer than 200 cases reported. This attributes to the lack of information on the disease as patients with the condition are scarce which ultimately slows down research. In terms of prognosis and quality of life, a person with Maffucci syndrome must be monitored consistently as the risk of malignancy is exceptionally high. Although, if this malignancy never occurs then a person with Maffucci syndrome would have an otherwise normal life expectancy. Although they may have a normal life expectancy patients with Maffucci syndrome often need to undergo surgery to correct or remove damage caused by the calcium stones that are present on their hands and throughout their bodies. Also, treatment of the condition requires multidisciplinary teams to work in tandem to increase the quality of life for a patient.
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