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
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
T2-weighted MRI images of a 25-year-old male with Sjögren–Larsson syndrome revealing dysmyelination in the deep periventricular white matter and reduced brain volume in the frontal lobe
.- 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
It is associated with a deficiency of the enzyme
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
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
The ichthyosis is usually treated with topical ointment.
Eponym
It was characterized by
Sjögren's syndrome, which is a distinct condition named after a different person, Henrik Sjögren.[citation needed
]
See also
- Shabbir syndrome
- List of cutaneous conditions
References
- ISBN 0-07-138076-0.
- ISBN 0-7216-2921-0.
- ISBN 978-1-4160-2999-1.
- ^ a b c d e f g "Sjogren-Larsson syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. 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.
- S2CID 37451614.
- ^ Orphanet: Portal de enfermedades raras y medicamentos huérfanos
- Who Named It?
- 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 Scandinavica. 32 (supplement 113). Copenhagen: 9–105. S2CID 72058188.