Stiff Skin Syndrome Pictures, Symptoms, Causes, Treatment
Stiff skin syndrome, as the name indicates it is a skin disorder in which skin become hard, tough and thick. It is a rare disease and whole body of patient is involved. This syndrome further causes many complications in body like flexion contractures (joints become immoveable or stuck due to thickening of skin. Stiff skin syndrome is a genetic syndrome which occurs at the time of birth and stays through childhood. As it is genetic syndrome, so it is also known as congenital facial dystrophy.
The skin of patient become rock hard and there are no immunity abnormalities or hypersensitivity. At starting stage, skin got stiff in some areas and then slowly it spreads to surrounding areas. People say that it slowly covers limbs and patient is not able to move around freely. It hurts to walk around. Once skin becomes hard due to stiff skin syndrome, it cannot be reversed to its original healthy texture. It is also observed that chemotherapy helps to recover skin and stop spreading it over the whole body. It occurs due to mutation in a specific gene named FBN1. Its diagnosis is simple because of visible hard skin but genetic testing verify it.
Stiff skin syndrome as its name shows hardening of skin. So its main symptom involves hard, tough and thick skin which feels rough on touch. Hard skin is associated with some other symptoms like excessive hair growth on skin i.e. hypertrichosis, body fat get reduced i.e. lipodystrophy, muscles get weak, growth become slow, scoliosis and short stature. Eye become weak and sometimes eye paralysis is also reported. Patient feel immobility in limbs and joints due to thickening of skin. Patient loss elasticity of skin. Rare patient with this syndrome got abnormality in lipid metabolism.
It is a genetic disease which occur due to gene mutation. Mutation occur in a specific gene named FBN1. This gene is responsible for instructing body to make a protein called fibrillin 1. This protein in turn is responsible for providing elasticity to cells by making elastic fibers. This protein named fibrillin 1 also provide strength and support to bones and tissues related to nerves, muscles and lenses of eye. When fibrillin 1 protein is disturbed, its association with another protein elastin is also disturbed. As a result both these proteins interact abnormally in extracellular matrix and features of stiff skin syndrome arise.
Stiff skin syndrome once acquired, it cannot be reversed to a healthy skin. There are no specific therapies to treat this syndrome but its associated symptoms can be treated. Proper physical therapy and exercise are recommended to relax stiff joints and muscles. A lot of treatments are tried to improve this syndrome like steroids, light sensitive therapy i.e. psoralens, immunosuppressant drugs and light therapy but these all treatments are of no use in treating stiff skin syndrome. Antibiotic treatment is used to block some substances responsible for TGF beta antibodies and integrin binding.
The skin of patient become rock hard and there are no immunity abnormalities or hypersensitivity. At starting stage, skin got stiff in some areas and then slowly it spreads to surrounding areas. People say that it slowly covers limbs and patient is not able to move around freely. It hurts to walk around. Once skin becomes hard due to stiff skin syndrome, it cannot be reversed to its original healthy texture. It is also observed that chemotherapy helps to recover skin and stop spreading it over the whole body. It occurs due to mutation in a specific gene named FBN1. Its diagnosis is simple because of visible hard skin but genetic testing verify it.
Stiff Skin Syndrome Pictures
Stiff Skin Syndrome Symptoms
Stiff skin syndrome as its name shows hardening of skin. So its main symptom involves hard, tough and thick skin which feels rough on touch. Hard skin is associated with some other symptoms like excessive hair growth on skin i.e. hypertrichosis, body fat get reduced i.e. lipodystrophy, muscles get weak, growth become slow, scoliosis and short stature. Eye become weak and sometimes eye paralysis is also reported. Patient feel immobility in limbs and joints due to thickening of skin. Patient loss elasticity of skin. Rare patient with this syndrome got abnormality in lipid metabolism.
Stiff Skin Syndrome Causes
It is a genetic disease which occur due to gene mutation. Mutation occur in a specific gene named FBN1. This gene is responsible for instructing body to make a protein called fibrillin 1. This protein in turn is responsible for providing elasticity to cells by making elastic fibers. This protein named fibrillin 1 also provide strength and support to bones and tissues related to nerves, muscles and lenses of eye. When fibrillin 1 protein is disturbed, its association with another protein elastin is also disturbed. As a result both these proteins interact abnormally in extracellular matrix and features of stiff skin syndrome arise.
Stiff Skin Syndrome Treatment
Stiff skin syndrome once acquired, it cannot be reversed to a healthy skin. There are no specific therapies to treat this syndrome but its associated symptoms can be treated. Proper physical therapy and exercise are recommended to relax stiff joints and muscles. A lot of treatments are tried to improve this syndrome like steroids, light sensitive therapy i.e. psoralens, immunosuppressant drugs and light therapy but these all treatments are of no use in treating stiff skin syndrome. Antibiotic treatment is used to block some substances responsible for TGF beta antibodies and integrin binding.
Stiff Skin Syndrome Pictures, Symptoms, Causes, Treatment
Reviewed by Simon Albert
on
June 13, 2019
Rating:
Reviewed by Simon Albert
on
June 13, 2019
Rating:
