Stone Man Syndrome
A. Introduction
Fibrodysplasia Ossificans Progressiva (FOP), also known as ‘Stone Man Syndrome’, is an extremely rare genetic disorder which affects as little as 1 in 2 million people without ethnic, racial, gender, or geographic predilection (www.iofbonehealth.org). The median life span of someone with FOP is reduced to 40 years due to the debilitating nature of the disorder, with death usually being caused by the complications of thoracic insufficiency syndrome in the later decades of life. FOP causes muscles and connective tissues such as tendons and cartilage to be gradually replaced by bone, resulting in bone forming outside of the skeleton which locks joints into place and heavily restricts movement. (www.ghr.nlm.nih.gov). …show more content…
Those with the condition are born with malformed great (big) toes and, in around 50 percent of cases, malformed thumbs also. This mild malformation, which can be observed at birth, involves a short big toe with a valgus deviation (see Figure 2) which can arouse clinical suspicion and should prompt genetic consultation and testing. This can lead to an early diagnosis. X-rays can also be used to identify less apparent great toe abnormalities (www.ojrd.biomedcentral.com). Other congenital abnormalities include short fingers and toes and an abnormally short and broad neck of the femur. Chronic swelling is also a characteristic symptom of someone with FOP. Swelling can be due to the new bone constricting lymphatic vessels, leading to an accumulation of tissue fluid. It can also be because ossified muscle can cause blood and tissue fluid to form a pool in the limbs. Stiffness in the neck is another frequent symptom which can often anticipate ossification in the area. Most children born with Stone Man Syndrome cannot crawl because they have large posterior elements and the facet joints in the cervical spine have not formed properly or have fused, restricting movement (www.ifopa.org). Patients also develop fibrous nodules over the upper body which form after minor bodily traumas such as falls or viral illnesses. Whilst some of them regress, usually, these nodules are replaced by mature bone …show more content…
Due to being a genetic condition, the ultimate treatment would be some form of gene correction. However, currently there are no effective treatments so management of the symptoms is prioritised. Prevention of soft-tissue injuries and avoidance of viral infections can slow the rate of ossification as these factors can exacerbate the issue. Corticosteroids can be used to reduce the inflammation seen before the heterotopic ossification occurs. Muscle relaxants can also reduce the pain during flare ups involving major muscle groups. (F.S Kaplan,
A. Introduction
Fibrodysplasia Ossificans Progressiva (FOP), also known as ‘Stone Man Syndrome’, is an extremely rare genetic disorder which affects as little as 1 in 2 million people without ethnic, racial, gender, or geographic predilection (www.iofbonehealth.org). The median life span of someone with FOP is reduced to 40 years due to the debilitating nature of the disorder, with death usually being caused by the complications of thoracic insufficiency syndrome in the later decades of life. FOP causes muscles and connective tissues such as tendons and cartilage to be gradually replaced by bone, resulting in bone forming outside of the skeleton which locks joints into place and heavily restricts movement. (www.ghr.nlm.nih.gov). …show more content…
Those with the condition are born with malformed great (big) toes and, in around 50 percent of cases, malformed thumbs also. This mild malformation, which can be observed at birth, involves a short big toe with a valgus deviation (see Figure 2) which can arouse clinical suspicion and should prompt genetic consultation and testing. This can lead to an early diagnosis. X-rays can also be used to identify less apparent great toe abnormalities (www.ojrd.biomedcentral.com). Other congenital abnormalities include short fingers and toes and an abnormally short and broad neck of the femur. Chronic swelling is also a characteristic symptom of someone with FOP. Swelling can be due to the new bone constricting lymphatic vessels, leading to an accumulation of tissue fluid. It can also be because ossified muscle can cause blood and tissue fluid to form a pool in the limbs. Stiffness in the neck is another frequent symptom which can often anticipate ossification in the area. Most children born with Stone Man Syndrome cannot crawl because they have large posterior elements and the facet joints in the cervical spine have not formed properly or have fused, restricting movement (www.ifopa.org). Patients also develop fibrous nodules over the upper body which form after minor bodily traumas such as falls or viral illnesses. Whilst some of them regress, usually, these nodules are replaced by mature bone …show more content…
Due to being a genetic condition, the ultimate treatment would be some form of gene correction. However, currently there are no effective treatments so management of the symptoms is prioritised. Prevention of soft-tissue injuries and avoidance of viral infections can slow the rate of ossification as these factors can exacerbate the issue. Corticosteroids can be used to reduce the inflammation seen before the heterotopic ossification occurs. Muscle relaxants can also reduce the pain during flare ups involving major muscle groups. (F.S Kaplan,