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Sjögren-Larsson syndrome(SLS)

MedGen UID:
11443
Concept ID:
C0037231
Congenital Abnormality
Synonyms: FADH deficiency; FAO deficiency; FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY; Fatty aldehyde dehydrogenase deficiency; Ichthyosis, spastic neurologic disorder, and oligophrenia; Sjogren-Larsson Syndrome; SLS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Sjogren-Larsson syndrome (111303009); Sj+¦gren-Larsson syndrome (111303009); Fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency (111303009); FAO - Fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency (111303009)
 
Gene: ALDH3A2
Cytogenetic location: 17p11.2
OMIM: 270200

Definition

Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, 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 GHR
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).  http://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome

Clinical features

Hypoplasia of dental enamel
MedGen UID:
501010
Concept ID:
CN005491
Finding
Developmental hypoplasia of the `dental enamel` (FMA:55629).
Retinopathy
MedGen UID:
427824
Concept ID:
CN000456
Finding
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Inflammatory abnormality of the eye
MedGen UID:
451869
Concept ID:
CN117426
Finding
Inflammation of the eye, parts of the eye or the periorbital region.
Corneal erosion
MedGen UID:
506552
Concept ID:
CN117761
Finding
An erosion or abrasion of the cornea's outermost layer of epithelial cells.
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Hemiplegia/hemiparesis
MedGen UID:
446595
Concept ID:
CN003873
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Skeletal dysplasia
MedGen UID:
505316
Concept ID:
CN002411
Finding
A general term describing features characterized by abnormal development of bones and connective tissues.
Hyperkeratosis
MedGen UID:
504662
Concept ID:
CN000900
Finding
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Abnormality of the nail
MedGen UID:
446417
Concept ID:
CN001454
Finding
Abnormality of the `nail` (FMA:54326).
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGSjögren-Larsson syndrome

Recent clinical studies

Etiology

Sarret C, Rigal M, Vaurs-Barrière C, Dorboz I, Eymard-Pierre E, Combes P, Giraud G, Wanders RJ, Afenjar A, Francannet C, Boespflug-Tanguy O
J Neurol Sci 2012 Jan 15;312(1-2):123-6. Epub 2011 Aug 26 doi: 10.1016/j.jns.2011.08.006. [Epub ahead of print] PMID: 21872273
van der Veen RL, Fuijkschot J, Willemsen MA, Cruysberg JR, Berendschot TT, Theelen T
Ophthalmology 2010 May;117(5):966-71. Epub 2010 Feb 16 doi: 10.1016/j.ophtha.2009.10.019. [Epub ahead of print] PMID: 20163870
Fuijkschot J, Cruysberg JR, Willemsen MA, Keunen JE, Theelen T
Ophthalmology 2008 May;115(5):870-5. Epub 2007 Sep 12 doi: 10.1016/j.ophtha.2007.05.063. [Epub ahead of print] PMID: 17826835
Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ
Brain 2001 Jul;124(Pt 7):1426-37. PMID: 11408337
Kawakami T, Saito R, Fujikawa Y, Kazama H, Shinomiya N, Yamaguchi K, Yamaguchi Y, Aoki T, Kobayashi T
Dermatology 1999;198(1):93-6. doi: 18075. PMID: 10026413

Diagnosis

Takeichi T, Sugiura K, Arai H, Ishii K, Kono M, Akiyama M
Acta Derm Venereol 2013 Sep 4;93(5):579-80. doi: 10.2340/00015555-1526. PMID: 23450279
Bhallil S, Chraibi F, Andalloussi IB, Tahri H
Int Ophthalmol 2012 Oct;32(5):495-8. Epub 2012 Aug 30 doi: 10.1007/s10792-012-9590-9. [Epub ahead of print] PMID: 22932746
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. [Epub ahead of print] PMID: 22833178
Balakumar B, Arora S, Palocaren T
J Pediatr Orthop B 2012 Nov;21(6):583-6. doi: 10.1097/BPB.0b013e328357180d. PMID: 22828186
Yiş U, Terrinoni A
Turk J Pediatr 2012 Jan-Feb;54(1):64-6. PMID: 22397046

Therapy

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. [Epub ahead of print] PMID: 22833178
Elias PM, Williams ML, Feingold KR
Clin Dermatol 2012 May-Jun;30(3):311-22. doi: 10.1016/j.clindermatol.2011.08.017. PMID: 22507046Free PMC Article
Benez MD, Fontenelle E, Tozzi BB, Presotto C
An Bras Dermatol 2010 Nov-Dec;85(6):951-3. PMID: 21308331
Gånemo A, Jagell S, Vahlquist A
Acta Derm Venereol 2009;89(1):68-73. doi: 10.2340/00015555-0561. PMID: 19197545
Haug S, Braun-Falco M
Gene Ther 2006 Jul;13(13):1021-6. Epub 2006 Mar 9 doi: 10.1038/sj.gt.3302743. [Epub ahead of print] PMID: 16525484

Prognosis

Sharma P, Chaudhuri Z, Raina UK, Ghosh B, Sethi S
J Pediatr Ophthalmol Strabismus 2009 Jan-Feb;46(1):42-4. PMID: 19213277
Pirgon O, Aydin K, Atabek ME
J Child Neurol 2006 Dec;21(12):1092-5. PMID: 17156709
Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H
Arch Neurol 2006 Feb;63(2):278-80. doi: 10.1001/archneur.63.2.278. PMID: 16476818Free PMC Article
Auada MP, Taube MB, Collares EF, Tanaka AM, Cintra ML
Eur J Dermatol 2002 May-Jun;12(3):263-6. PMID: 11978568
Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ
Brain 2001 Jul;124(Pt 7):1426-37. PMID: 11408337

Clinical prediction guides

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. [Epub ahead of print] PMID: 21834825
Hu S, Vissink A, Arellano M, Roozendaal C, Zhou H, Kallenberg CG, Wong DT
Proteomics 2011 Apr;11(8):1499-507. Epub 2011 Mar 17 doi: 10.1002/pmic.201000206. [Epub ahead of print] PMID: 21413148Free PMC Article
van der Veen RL, Fuijkschot J, Willemsen MA, Cruysberg JR, Berendschot TT, Theelen T
Ophthalmology 2010 May;117(5):966-71. Epub 2010 Feb 16 doi: 10.1016/j.ophtha.2009.10.019. [Epub ahead of print] PMID: 20163870
Fuijkschot J, Maassen B, Gorter JW, Gerven Mv, Willemsen M
Dev Neurorehabil 2009 Apr;12(2):106-12. doi: 10.1080/17518420902800944. PMID: 19340663
Fuijkschot J, Cruysberg JR, Willemsen MA, Keunen JE, Theelen T
Ophthalmology 2008 May;115(5):870-5. Epub 2007 Sep 12 doi: 10.1016/j.ophtha.2007.05.063. [Epub ahead of print] PMID: 17826835

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