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 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.
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 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.[4]
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.
- Often 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.
Causes
It is associated with a deficiency of the enzyme fatty aldehyde dehydrogenase (ALDH3A2) located on the short arm of chromosome 17 (17p11.2). At least 11 distinct mutations have been identified.[5]
This condition is inherited in an autosomal recessive pattern.
Diagnosis
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Treatment
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Eponym
It was characterized by Torsten Sjögren and Tage Konrad Leopold Larsson (1905–1998), a Swedish medical statistician.[6][7]
It should not be confused with Sjögren's syndrome, which is a distinct condition named after a different person (Henrik Sjögren).
See also
References
- ^ 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: Mosby. ISBN 978-1-4160-2999-1.
- ^ "Sjögren-Larssons syndrom".
- ^ Sillén A, Anton-Lamprecht I, Braun-Quentin C, et al. (1998). "Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren–Larsson syndrome". Hum. Mutat. 12 (6): 377–84. doi:10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I. PMID 9829906.
- ^ synd/1678 at Who Named It?
- ^ SJOGREN T, LARSSON T (1957). "Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study". Acta Psychiatr Neurol Scand Suppl. 113: 1–112. PMID 13457946.
Further reading
- 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. 32 (supplement 113). Copenhagen: 9–105. PMID 13457946.