Sjögren–Larsson syndrome | |
---|---|
Other names | SLS |
Two brothers (21 and 25 years old) with generalized dryness of skin with fine scales mainly around the umbilicus and in the flexural folds, one of Sjögren–Larsson syndrome characteristics. | |
Specialty | Medical genetics |
Sjögren–Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms. [1]: 485 [2]: 564 [3] It can be identified by a triad of medical disorders. The first is ichthyosis, which is a buildup of skin to form a scale-like covering that causes dry skin and other problems. The second identifier is paraplegia which is characterized by leg spasms. The final identifier is intellectual delay.
SLS is caused by a mutation in the fatty aldehyde dehydrogenase gene found on chromosome 17. [4] In order for a child to receive SLS both parents must be carriers of the SLS gene. If they are carriers their child has a 1⁄4 chance of getting the disease. In 1957 Sjögren and Larsson proposed that the Swedes with the disease all descended from a common ancestor 600 years ago. Today only 30–40 persons in Sweden have this disease. [5]
The usual presentation of crystalline maculopathy is from the age of 1–2 years onwards.[ citation needed]
It is associated with a deficiency of the enzyme fatty aldehyde dehydrogenase ( ALDH3A2) which is encoded on the short arm of chromosome 17 (17p11.2). At least 11 distinct mutations have been identified. [6]
Without a functioning fatty aldehyde dehydrogenase enzyme, the body is unable to break down medium- and long-chain fatty aldehydes which then build up in the membranes of the skin and brain. [4]
This condition is inherited in an autosomal recessive pattern. [7]
Diagnosis is made with a blood test which sees if the activity of the fatty aldehyde dehydrogenase enzyme is normal. [4] Gene sequencing can also be used, which can additionally be used by would-be parents to see if they are carriers. [4]
The ichthyosis is usually treated with topical ointment. [4] Anti-convulsants are used to treat seizures [4] and the spasms may be improved with surgery. [4]
It was characterized by Torsten Sjögren and Tage Konrad Leopold Larsson (1905–1998), a Swedish medical statistician. [8] [9] It should not be confused with Sjögren's syndrome, which is a distinct condition named after a different person, Henrik Sjögren.[ citation needed]
Sjögren–Larsson syndrome | |
---|---|
Other names | SLS |
Two brothers (21 and 25 years old) with generalized dryness of skin with fine scales mainly around the umbilicus and in the flexural folds, one of Sjögren–Larsson syndrome characteristics. | |
Specialty | Medical genetics |
Sjögren–Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms. [1]: 485 [2]: 564 [3] It can be identified by a triad of medical disorders. The first is ichthyosis, which is a buildup of skin to form a scale-like covering that causes dry skin and other problems. The second identifier is paraplegia which is characterized by leg spasms. The final identifier is intellectual delay.
SLS is caused by a mutation in the fatty aldehyde dehydrogenase gene found on chromosome 17. [4] In order for a child to receive SLS both parents must be carriers of the SLS gene. If they are carriers their child has a 1⁄4 chance of getting the disease. In 1957 Sjögren and Larsson proposed that the Swedes with the disease all descended from a common ancestor 600 years ago. Today only 30–40 persons in Sweden have this disease. [5]
The usual presentation of crystalline maculopathy is from the age of 1–2 years onwards.[ citation needed]
It is associated with a deficiency of the enzyme fatty aldehyde dehydrogenase ( ALDH3A2) which is encoded on the short arm of chromosome 17 (17p11.2). At least 11 distinct mutations have been identified. [6]
Without a functioning fatty aldehyde dehydrogenase enzyme, the body is unable to break down medium- and long-chain fatty aldehydes which then build up in the membranes of the skin and brain. [4]
This condition is inherited in an autosomal recessive pattern. [7]
Diagnosis is made with a blood test which sees if the activity of the fatty aldehyde dehydrogenase enzyme is normal. [4] Gene sequencing can also be used, which can additionally be used by would-be parents to see if they are carriers. [4]
The ichthyosis is usually treated with topical ointment. [4] Anti-convulsants are used to treat seizures [4] and the spasms may be improved with surgery. [4]
It was characterized by Torsten Sjögren and Tage Konrad Leopold Larsson (1905–1998), a Swedish medical statistician. [8] [9] It should not be confused with Sjögren's syndrome, which is a distinct condition named after a different person, Henrik Sjögren.[ citation needed]