Sjögren–Larsson syndrome
| 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's 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]
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis, MO: Mosby. ISBN 978-1-4160-2999-1.
- ^ "Sjogren-Larsson syndrome". Genetic and Rare Diseases Information Center (GARD). Archived from the original on 2021-03-18. Retrieved 2020-10-31.
- ^ "Sjögren-Larssons syndrom". Archived from the original on 2018-01-23. Retrieved 2015-09-11.