Pycnodysostosis, also called Toulouse-Lautrec Syndrome, is a rare genetic bone disorder that causes bones of individuals to be abnormally dense and has 1.7 occurrences per 1 million births (hindawi paper). The abnormal mutation of the gene that codes the enzyme cathepsin-K causes a disruption in normal osteoclast production. This disease occurs more commonly in male children than female children at a 2:1 ration (hindawi), but other factors such as age and race seem to show minimal differences. Many of the symptoms of Pycnodysostosis are associated with bone fracture, maxiofacial abnormalities and dense bones. Since its naming and description by Maroteaux and Lamy in 1962, less than 200 cases have been reported (Hashem, Krochak, Culbertson,
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Born in 1864, he was a French artist who is well known for his posters and paintings of Moulin Rouge and Parisian nightlife. Toulouse-Lautrec was born into a rich family in Southern France who enjoyed hunting and horseback riding. At a young age, he suffered from severe pain in his legs and eventually had to withdraw from school and these activities. When Toulouse-Lautrec was 13, he suffered two falls which caused broken femurs. Throughout his young life his medical ailments were attributed to dampness, nerves, poor nutrition and rheumatism (Hodder, Huntley, Aronson, & Ramachandran, 2014). It wasn’t until 1965 when Drs. Maroteaux and Lamy diagnosed Toulouse-Lautrec with pycnodysostosis. This disease is an autosomal recessive disorder caused by a mutation in a gene on chromosome 1q21 (Hodder et al., 2014). Since Toulouse-Lautrec’s parents were first cousins, there is a great chance he inherited this disease. Pycnodysostosis is a genetic disorder of the bone caused by a mutation in the genetic enzyme cathepsin K and has been mapped by chromosome 1q21 (NHI Paper). The enzyme cathepsin K is very important in the normal function of osteoclasts and the reabsorption of organic bone matrix (Hodder et al., 2014); the lack of cathepsin K causes a disruption in the normal function of the osteoclasts. The mutation of this gene results in osteosclerosis. (ADD 3-4 MORE SENTENCES HERE ABOUT
Born in 1864, he was a French artist who is well known for his posters and paintings of Moulin Rouge and Parisian nightlife. Toulouse-Lautrec was born into a rich family in Southern France who enjoyed hunting and horseback riding. At a young age, he suffered from severe pain in his legs and eventually had to withdraw from school and these activities. When Toulouse-Lautrec was 13, he suffered two falls which caused broken femurs. Throughout his young life his medical ailments were attributed to dampness, nerves, poor nutrition and rheumatism (Hodder, Huntley, Aronson, & Ramachandran, 2014). It wasn’t until 1965 when Drs. Maroteaux and Lamy diagnosed Toulouse-Lautrec with pycnodysostosis. This disease is an autosomal recessive disorder caused by a mutation in a gene on chromosome 1q21 (Hodder et al., 2014). Since Toulouse-Lautrec’s parents were first cousins, there is a great chance he inherited this disease. Pycnodysostosis is a genetic disorder of the bone caused by a mutation in the genetic enzyme cathepsin K and has been mapped by chromosome 1q21 (NHI Paper). The enzyme cathepsin K is very important in the normal function of osteoclasts and the reabsorption of organic bone matrix (Hodder et al., 2014); the lack of cathepsin K causes a disruption in the normal function of the osteoclasts. The mutation of this gene results in osteosclerosis. (ADD 3-4 MORE SENTENCES HERE ABOUT