Sjögren–Larsson syndrome: Difference between revisions
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{{Distinguish|text=[[Sjögren's syndrome]], an autoimmune disorder which can cause many problems including dry skin}} |
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{{Infobox medical condition (new) |
{{Infobox medical condition (new) |
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| name = Sjögren–Larsson syndrome |
| name = Sjögren–Larsson syndrome |
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| synonyms = |
| synonyms = SLS |
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| image = Sjögren-Larsson icthyosis.jpg |
| image = Sjögren-Larsson icthyosis.jpg |
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| caption = Two brothers (21 and 25 years old) with generalized dryness of skin with fine scales mainly around the [[Navel|umbilicus]] and in the flexural folds, one of Sjögren–Larsson syndrome characteristics. |
| caption = Two brothers (21 and 25 years old) with generalized dryness of skin with fine scales mainly around the [[Navel|umbilicus]] and in the flexural folds, one of Sjögren–Larsson syndrome's characteristics. |
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'''Sjögren–Larsson syndrome''' ('''SLS''') is an autosomal recessive form of [[ichthyosis]] apparent at birth.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.</ref>{{rp|485}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|564}}<ref name="Bolognia">{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages= |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}}</ref> |
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Sjögren–Larsson syndrome |
'''Sjögren–Larsson syndrome''' is a rare autosomal recessive form of [[ichthyosis]] with neurological symptoms.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine'' (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.</ref>{{rp|485}}<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology'' (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref>{{rp|564}}<ref name="Bolognia">{{Cite book |last=Rapini, Ronald P. |title=Dermatology: 2-Volume Set |last2=Bolognia, Jean L. |last3=Jorizzo, Joseph L. |publisher=Mosby |year=2007 |isbn=978-1-4160-2999-1 |location=St. Louis, MO}}</ref> 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 [[Xerosis|dry skin]] and other problems. The second identifier is [[paraplegia]] which is characterized by leg spasms. The final identifier is [[Cognitive deficit|intellectual delay]]. |
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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.<ref>http://www.socialstyrelsen.se/ovanligadiagnoser/sjogren-larssonssyndrom</ref> |
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SLS is caused by a mutation in the [[fatty aldehyde dehydrogenase]] gene found on [[chromosome 17]].<ref name=":0">{{Cite web |title=Sjogren-Larsson syndrome |url=https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome |url-status=dead |archive-url=https://web.archive.org/web/20210318075819/https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome |archive-date=2021-03-18 |access-date=2020-10-31 |publisher=Genetic and Rare Diseases Information Center (GARD)}}</ref> 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 {{Sfrac|1|4}} chance of getting the disease. In 1957 [[Torsten Sjögren|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.<ref>{{Cite web |title=Sjögren-Larssons syndrom |url=http://www.socialstyrelsen.se/ovanligadiagnoser/sjogren-larssonssyndrom |url-status=dead |archive-url=https://web.archive.org/web/20180123214402/http://www.socialstyrelsen.se/ovanligadiagnoser/sjogren-larssonssyndrom |archive-date=2018-01-23 |access-date=2015-09-11}}</ref> |
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== Signs and symptoms == |
== Signs and symptoms == |
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[[File:Sjögren-Larsson T2-MRI.jpg|thumb|[[MRI|T2-weighted MRI]] images of a 25 |
[[File:Sjögren-Larsson T2-MRI.jpg|thumb|[[MRI|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]].]] |
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*Dry and scaly skin similar to all other ichtyosiforms (types of [[ichthyosis]]). |
* Dry and scaly skin similar to all other ichtyosiforms (types of [[ichthyosis]]). |
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*Neurological problems – this can often cause mild [[paralysis]] in the legs |
* Neurological problems – this can often cause mild [[paralysis]] in the legs |
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*Mild to moderate [[intellectual disability]]. |
* Mild to moderate [[intellectual disability]]. |
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associated ocular features, which include pigmentary changes in the retina. |
* Often associated ocular features, which include pigmentary changes in the retina. |
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The usual presentation of crystalline maculopathy is from the age of 1–2 years onwards.{{citation needed|date=August 2021}} |
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==Causes== |
==Causes== |
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It is associated with a deficiency of the enzyme fatty aldehyde dehydrogenase ([[ALDH3A2]]) |
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.<ref name="pmid9829906">{{Cite journal |vauthors=Sillén A, Anton-Lamprecht I, Braun-Quentin C, etal |year=1998 |title=Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren–Larsson syndrome |journal=Hum. Mutat. |volume=12 |issue=6 |pages=377–84 |doi=10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I |pmid=9829906 |s2cid=37451614 |doi-access=free}}</ref> |
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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.<ref name=":0" /> |
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This condition is inherited in an [[autosomal recessive]] pattern.<ref name="Orphanet">[http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=es&Expert=816 Orphanet: Portal de enfermedades raras y medicamentos huérfanos]</ref> |
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== Genetics == |
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This condition is inherited in an [[autosomal recessive]] pattern. |
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==Diagnosis== |
==Diagnosis== |
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Diagnosis is made with a blood test which sees if the activity of the fatty aldehyde dehydrogenase enzyme is normal.<ref name=":0" /> [[DNA sequencing#Medicine|Gene sequencing]] can also be used, which can additionally be used by would-be parents to see if they are carriers.<ref name=":0" /> |
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{{Empty section|date=November 2017}} |
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==Treatment== |
==Treatment== |
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The ichthyosis is usually treated with topical ointment.<ref name=":0" /> [[Anti-convulsant]]s are used to treat seizures<ref name=":0" /> and the spasms may be improved with surgery.<ref name=":0" /> |
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{{Empty section|date=November 2017}} |
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==Eponym== |
==Eponym== |
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It was characterized by [[Torsten Sjögren]] and [[Tage Konrad Leopold Larsson]] (1905–1998), a Swedish medical statistician.<ref>{{WhoNamedIt|synd|1678}}</ref><ref name="pmid13457946">{{ |
It was characterized by [[Torsten Sjögren]] and [[Tage Konrad Leopold Larsson]] (1905–1998), a Swedish medical statistician.<ref>{{WhoNamedIt|synd|1678}}</ref><ref name="pmid13457946">{{Cite journal |vauthors=SJOGREN T, LARSSON T |year=1957 |title=Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study |journal=Acta Psychiatr Neurol Scand Suppl |volume=113 |pages=1–112 |pmid=13457946}}</ref> It should not be confused with [[Sjögren's syndrome]], which is a distinct condition named after a different person, [[Henrik Sjögren]].{{citation needed|date=August 2021}} |
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It should not be confused with [[Sjögren's syndrome]], which is a distinct condition named after a different person ([[Henrik Sjögren]]). |
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== See also == |
== See also == |
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{{reflist}} |
{{reflist}} |
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==Further reading |
==Further reading== |
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*{{ |
* {{Cite journal |last=Sjögren |first=K. G. Torsten |last2=Larsson |first2=Tage K. |date=1957 |title=Oligophrenia in combination with congenital ichtyosis and spastic disorders; a clinical and genetic study |journal=Acta Psychiatrica Scandinavica |location=Copenhagen |volume=32 |issue=supplement 113 |pages=9–105 |doi=10.1111/j.1600-0447.1956.tb04725.x |pmid=13457946 |s2cid=72058188}} |
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== External links == |
== External links == |
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{{Medical resources |
{{Medical resources |
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| DiseasesDB = 30051 |
| DiseasesDB = 30051 |
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| ICD10 = {{ICD10|Q|87|1|q|80}} ([[ILDS]] Q87.136) |
| ICD10 = {{ICD10|Q|87|1|q|80}} ([[ILDS]] Q87.136) |
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| ICD9 = {{ICD9|757.1}} ([[CDC/BPA]] 757.120) |
| ICD9 = {{ICD9|757.1}} ([[CDC/BPA]] 757.120) |
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| ICDO = |
| ICDO = |
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| OMIM = 270200 |
| OMIM = 270200 |
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| MedlinePlus = |
| MedlinePlus = |
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| eMedicineSubj = derm |
| eMedicineSubj = derm |
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| eMedicineTopic = 706 |
| eMedicineTopic = 706 |
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| MeshID = D016111 |
| MeshID = D016111 |
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| Orphanet=816 |
| Orphanet=816 |
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Latest revision as of 17:30, 6 November 2024
| 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.