|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.|
Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth.:485:564 Sjögren–Larsson syndrome is a rare autosomal, recessive, neurocutaneous disease. This disease 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. The gene of SLS is found on chromosome 17. 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 ¼ chance of getting the disease. In 1957 Sjogren 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.
Signs and symptoms
- Dry and scaly skin similar to all other ichtyosiforms (types of ichthyosis).
- Neurological problems – this can often cause mild paralysis in the legs
- Mild to moderate intellectual disability.
associated ocular features, which include pigmentary changes in the retina. The usual presentation of crystalline maculopathy is from the age of 1-2 years onwards.
This condition is inherited in an autosomal recessive pattern.
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- synd/1678 at Who Named It?
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- Sjögren, K. G. Torsten; Larsson, Tage K. (1957). "Oligophrenia in combination with congenital ichtyosis and spastic disorders; a clinical and genetic study". Acta Psychiatrica et Neurologica Scandinavica. Copenhagen. 32 (supplement 113): 9–105. PMID 13457946.