| Sjögren–Larsson syndrome | |
|---|---|
| Other names | SLS |
 | |
| Two brothers (21 and 25 years old) with generalized dryness of skin with fine scales mainly around theumbilicus and in the flexural folds, one of Sjögren–Larsson syndrome's characteristics | |
| Specialty | Medical genetics  |
Sjögren–Larsson syndrome is a rare autosomal recessive form ofichthyosis with neurological symptoms.[1]: 485 [2]: 564 [3] It can be identified by a triad of medical disorders. The first isichthyosis, which is a buildup of skin to form a scale-like covering that causesdry skin and other problems. The second identifier isparaplegia which is characterized by leg spasms. The final identifier isintellectual delay.
SLS is caused by a mutation in thefatty aldehyde dehydrogenase gene found onchromosome 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 a1/4 chance of getting the disease. In 1957Sjögren 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 enzymefatty aldehyde dehydrogenase (ALDH3A2) which is encoded on the short arm ofchromosome 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-chainfatty aldehydes which then build up in the membranes of the skin and brain.[4]
This condition is inherited in anautosomal 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 byTorsten Sjögren andTage Konrad Leopold Larsson (1905–1998), a Swedish medical statistician.[8][9] It should not be confused withSjögren's syndrome, which is a distinct condition named after a different person,Henrik Sjögren.[citation needed]