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Sjögren-Larsson syndrome(SLS)

MedGen UID:
11443
Concept ID:
C0037231
Disease or Syndrome
Synonyms: FADH deficiency; FALDH DEFICIENCY; FAO deficiency; FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY; FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY; ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIA; Sjogren-Larsson Syndrome; SLS
SNOMED CT: Sjogren-Larsson syndrome (111303009); Sjögren-Larsson syndrome (111303009); Fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency (111303009); FAO - Fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency (111303009)
Modes of inheritance:
 
ALDH3A2 (17p11.2)
 
Monarch Initiative: MONDO:0010031
OMIM®: 270200
Orphanet: ORPHA816

Definition

Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). [from OMIM]

Additional description

From MedlinePlus Genetics
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age.

Affected infants tend to be born prematurely. At birth the skin is red (erythema), but later in infancy the skin becomes dry, rough, and scaly with a brownish or yellowish tone. Mild to severe itchiness (pruritus) is also common. These skin abnormalities are generally dispersed over the whole body, most severely affecting the nape of the neck, the torso, and the extremities. The skin of the face is usually not affected.

People with this condition may also have neurological signs and symptoms. Most affected individuals have leukoencephalopathy, which is a change in a type of brain tissue called white matter. White matter consists of nerve fibers covered by a substance (myelin) that insulates and protects the nerves. The leukoencephalopathy is thought to contribute to many of the neurological signs and symptoms in people with Sjögren-Larsson syndrome. Most affected individuals have intellectual disability that varies from mild to profound and is usually apparent by early childhood. People with Sjögren-Larsson syndrome have speech difficulties (dysarthria) and delayed speech. Usually they are able to produce only short sentences with poorly formed words. Rarely, people with this condition have normal intelligence. In addition, approximately 40 percent of people with Sjögren-Larsson syndrome have seizures.

Children with this condition often experience delayed development of motor skills (such as crawling and walking) due to abnormal muscle stiffness (spasticity) that is typically in their legs and, less commonly, also in their arms. About one-half of people with Sjögren-Larsson syndrome require wheelchair assistance and many others need some form of support to walk.

Affected individuals have tiny crystals in the light-sensitive tissue at the back of the eye (retina) that can be seen during an eye exam. Based on their appearance, these retinal crystals are often called glistening white dots. These white dots are usually apparent by early childhood, and it is unclear if they affect normal vision. People with Sjögren-Larsson syndrome may also have nearsightedness (myopia) or an increased sensitivity to light (photophobia).  https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSjögren-Larsson syndrome

Professional guidelines

PubMed

Weustenfeld M, Eidelpes R, Schmuth M, Rizzo WB, Zschocke J, Keller MA
Hum Mutat 2019 Feb;40(2):177-186. Epub 2018 Nov 26 doi: 10.1002/humu.23679. PMID: 30372562Free PMC Article
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849
Jagell S, Lidén S
Acta Derm Venereol 1983;63(1):89-91. PMID: 6191505

Recent clinical studies

Etiology

Franzen MH, LeRiger MM, Pellegrino KP, Kugler JA, Rizzo WB
Paediatr Anaesth 2020 Dec;30(12):1390-1395. Epub 2020 Oct 26 doi: 10.1111/pan.14034. PMID: 33037729Free PMC Article
Jack LS, Benson C, Sadiq MA, Rizzo WB, Margalit E
Ophthalmology 2015 Aug;122(8):1730-2. Epub 2015 Mar 14 doi: 10.1016/j.ophtha.2015.02.003. PMID: 25784589Free PMC Article
Craiglow BG
Semin Perinatol 2013 Feb;37(1):26-31. doi: 10.1053/j.semperi.2012.11.001. PMID: 23419760Free PMC Article
Brandling-Bennett HA, Liang MG
Pediatr Dermatol 2005 Nov-Dec;22(6):569-71. doi: 10.1111/j.1525-1470.2005.00143.x. PMID: 16354265
Sood M, Trehan A, Dinakaran J, Marwaha RK
Indian J Pediatr 2002 Feb;69(2):193-4. doi: 10.1007/BF02859387. PMID: 11929038

Diagnosis

Pawar N, Meenakshi R, Maheshwari D, Fathima A, Chakrabarty S, Paranjape M
Indian J Ophthalmol 2022 Jul;70(7):2727-2728. doi: 10.4103/ijo.IJO_2994_21. PMID: 35791223Free PMC Article
Jen M, Nallasamy S
Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2 doi: 10.1016/j.clindermatol.2015.11.008. PMID: 26903188
Craiglow BG
Semin Perinatol 2013 Feb;37(1):26-31. doi: 10.1053/j.semperi.2012.11.001. PMID: 23419760Free PMC Article
Fuijkschot J, Theelen T, Seyger MM, van der Graaf M, de Groot IJ, Wevers RA, Wanders RJ, Waterham HR, Willemsen MA
J Inherit Metab Dis 2012 Nov;35(6):955-62. Epub 2012 Jul 26 doi: 10.1007/s10545-012-9518-6. PMID: 22833178
Dutra LA, Braga-Neto P, Pedroso JL, Povoas Barsottini OG
Adv Exp Med Biol 2012;724:344-50. doi: 10.1007/978-1-4614-0653-2_26. PMID: 22411255

Therapy

Xu YC, Hou JQ, Zhu WJ, Li P
J Cosmet Dermatol 2020 Apr;19(4):789-798. Epub 2019 Nov 7 doi: 10.1111/jocd.13209. PMID: 31697031
Fuijkschot J, Seyger MM, Bastiaans DE, Wevers RA, Roeleveld N, Willemsen MA
Acta Derm Venereol 2016 Feb;96(2):255-6. doi: 10.2340/00015555-2195. PMID: 26123322
Ahmed S, Palevsky HI
Rheum Dis Clin North Am 2014 Feb;40(1):103-24. doi: 10.1016/j.rdc.2013.10.001. PMID: 24268012
Fuijkschot J, Theelen T, Seyger MM, van der Graaf M, de Groot IJ, Wevers RA, Wanders RJ, Waterham HR, Willemsen MA
J Inherit Metab Dis 2012 Nov;35(6):955-62. Epub 2012 Jul 26 doi: 10.1007/s10545-012-9518-6. PMID: 22833178
Jagell S, Hallmans G, Gustavson KH
Ups J Med Sci 1981;86(3):291-5. doi: 10.3109/03009738109179240. PMID: 7324288

Prognosis

Kovach JL
Ophthalmic Surg Lasers Imaging Retina 2018 Sep 1;49(9):e78-e82. doi: 10.3928/23258160-20180907-11. PMID: 30222823
Cho KH, Shim SH, Kim M
Clin Genet 2018 Apr;93(4):721-730. Epub 2017 Sep 17 doi: 10.1111/cge.13058. PMID: 28543186
Priyadharshini Christy J, George Priya Doss C
Front Biosci (Landmark Ed) 2015 Jan 1;20(2):335-76. doi: 10.2741/4313. PMID: 25553455
Brandling-Bennett HA, Liang MG
Pediatr Dermatol 2005 Nov-Dec;22(6):569-71. doi: 10.1111/j.1525-1470.2005.00143.x. PMID: 16354265
Sood M, Trehan A, Dinakaran J, Marwaha RK
Indian J Pediatr 2002 Feb;69(2):193-4. doi: 10.1007/BF02859387. PMID: 11929038

Clinical prediction guides

Franzen MH, LeRiger MM, Pellegrino KP, Kugler JA, Rizzo WB
Paediatr Anaesth 2020 Dec;30(12):1390-1395. Epub 2020 Oct 26 doi: 10.1111/pan.14034. PMID: 33037729Free PMC Article
Priyadharshini Christy J, George Priya Doss C
Front Biosci (Landmark Ed) 2015 Jan 1;20(2):335-76. doi: 10.2741/4313. PMID: 25553455
Shirato K, Marshman G
Australas J Dermatol 2011 Aug;52(3):231-2. Epub 2011 Mar 1 doi: 10.1111/j.1440-0960.2011.00729.x. PMID: 21834825
Sillén A, Anton-Lamprecht I, Braun-Quentin C, Kraus CS, Sayli BS, Ayuso C, Jagell S, Küster W, Wadelius C
Hum Mutat 1998;12(6):377-84. doi: 10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I. PMID: 9829906
Jagell S, Hofer PA
Acta Derm Venereol 1982;62(5):397-400. PMID: 6183888

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