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]
Signs and symptoms
[edit]
- 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.[citation needed]
Causes
[edit]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
[edit]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]
Treatment
[edit]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]
Eponym
[edit]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]
See also
[edit]References
[edit]- ^ 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.
- ^ a b c d e f g "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.
- ^ 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. S2CID 37451614.
- ^ Orphanet: Portal de enfermedades raras y medicamentos huérfanos
- ^ 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
[edit]- Sjögren, K. G. Torsten; Larsson, Tage K. (1957). "Oligophrenia in combination with congenital ichtyosis and spastic disorders; a clinical and genetic study". Acta Psychiatrica Scandinavica. 32 (supplement 113). Copenhagen: 9–105. doi:10.1111/j.1600-0447.1956.tb04725.x. PMID 13457946. S2CID 72058188.