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SjÖgren-Larsson Syndrome

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Abstract

Sjögren-Larsson syndrome (SLS) is a metabolic disorder with neurocutaneous features inherited as an autosomal recessive trait (OMIM # 270200) characterized by a clinical triad of congenital ichthyosis, gradually developing spastic di- or tetraplegia and mental retardation (Gordon 2007; Rizzo 2006, 2007).

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References

  • Aslam SA, Sheth HG (2007) Ocular features of Sjögren-Larsson syndrome. J Main e Med Assoc 56: 98–99.

    Google Scholar 

  • Baar HS, Galindo J (1965) Pathology of the Sjögren-Larsson syndrome. J Maine Med Assoc 56: 223–226.

    PubMed  CAS  Google Scholar 

  • Bredmose GV (1940) Et tilfaelde af mongoloid idioti og ichtyosis med neurohistologiske forandringer. Nord Med 5: 440–442.

    Google Scholar 

  • Chang C, Yoshida A (1997) Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression. Genomics 40: 80–85.

    Article  PubMed  CAS  Google Scholar 

  • Chaves-Carballo E (1987) Sjögren-Larsson syndrome. In: Gomez MR (ed.) Neurocutaneous diseases. A practical approach. Boston: Butterworths, pp. 119–224.

    Google Scholar 

  • De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB (1996) Sjögren-Larsson syndrome is caused by a common mutation in the fatty aldehyde dehydrogenase gene. Nat Genet 12: 52–57.

    Article  PubMed  Google Scholar 

  • De Laurenzi V, Rogers GR, Tarcsa E, Carney G, Marekov L, Bale SJ, Compton JG, Markova, Steinert PM, Rizzo WB (1997) Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients. J Invest Dermatol 109: 79–83.

    Article  PubMed  Google Scholar 

  • Fernandez-Vbzmediano JM, Armario-Hita JC, Gonzalez-Cabrerizo A (2003) Sjögren-Larsson syndrome: treatment with topical calcipotriol. Pediatr Dermatol 20: 179–180.

    Article  Google Scholar 

  • Forsberg H, Jagell S, Reuterving CO (1983) Oral conditions in Sjögren-Larsson syndrome. Swed Dent J 7: 141–151.

    PubMed  CAS  Google Scholar 

  • Fuijkschot J, Cruysberg JR, Willemsen MA, Keunen JE, Theelen T (2008) Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren-Larsson syndrome detected by optical coherence tomography. Ophthalmology 115: 870–875.

    Article  PubMed  Google Scholar 

  • Gedde-Dahl T Jr, Rajka G, Larsen TE, Jellum E (1984) Autosomal recessive ichthyosis in Norway. II. Sjögren-Larsson-like ichthyosis without CNS or eye involvement. Clin Genet 25: 242–244.

    Google Scholar 

  • Gordon (2007) Sjögren-Larsson syndrome. Dev Med Child Neurol 49: 152–154.

    Article  PubMed  Google Scholar 

  • Inamadar AC, Palit A (2007) Persistent, aberrant Mongolian spots in Sjögren-Larsson syndrome. Pediatr Dermatol 24(1): 98–99.

    PubMed  Google Scholar 

  • Iselius L, Jagell S (1989) Sjögren-Larsson syndrome in Sweden: distribution of the gene. Clin Genet 35(4): 272–275.

    PubMed  CAS  Google Scholar 

  • Jagell S, Polland W, Sandgren O (1980) Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients. Acta Ophthalmol (Copenh) 58: 321–330.

    Article  CAS  Google Scholar 

  • Jagell S, Gustavson KH, Holmgren G (1981a) Sjögren-Larsson syndrome in Sweden: a clinical, genetical and epidemiological study. Clin Genet 19: 233–256.

    Article  PubMed  CAS  Google Scholar 

  • Jagell S, Hallmans G, Gustavson KH (1981b) Zinc and copper concentration in serum of patients with congenital ichthyosis, spastic di-or tetraplegia and mental retardation (Sjögren-Larsson syndrome). Ups J Med Sci 86: 291–295.

    Article  PubMed  CAS  Google Scholar 

  • Jagell S, Heijbel J (1982) Sjögren-Larsson syndrome: physical and neurological features. A survey of 35 patients. Helv Paediatr Acta 37: 519–530.

    PubMed  CAS  Google Scholar 

  • Judge MR, Lake BD, Smith VV, Besley GT, Harper JI (1990) Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren-Larsson syndrome. J Invest Dermatol 95: 632–634.

    Article  PubMed  CAS  Google Scholar 

  • Lake BD, Smith W, Judge MR, Harper JI, Besley GT (1991) Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyoses. J Inherit Metab Dis 14: 338–340.

    Article  PubMed  CAS  Google Scholar 

  • Laubenthal F (1938) Über einige Sonderformen des “angehorenen Schwachsinns”. Z Ges Neurol Psychiatr 163: 233–238.

    Article  Google Scholar 

  • Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H (2006) Phenotypic variability among adult siblings with Sjögren-Larsson syndrome. Arch Neurol 63: 278–280.

    Article  PubMed  Google Scholar 

  • Maia M (1974) Sjögren-Larsson syndrome in two sibs with peripheral nerve involvement and bisalbuminaemia. J Neurol Neurosurg Psychiatr 37: 1306–1315.

    Article  PubMed  CAS  Google Scholar 

  • Mano R, Ono J, Kaminaga T, Imai K, Sakurai K, Harada K, Nagai T, Rizzo WB, Okada S (1999) Proton MR rrelation in Sjögren-Larsson syndrome. Am J Neuroradiol 20: 1671–1673.

    PubMed  CAS  Google Scholar 

  • McLennan JE, Gilles FH, Robb RM (1974) Neuropathological correlation in Sjögren-Larsson syndrome. Oligophrenia, ichthyosis, spasticity. Brain 97: 693–703.

    Article  PubMed  CAS  Google Scholar 

  • Miyanomae Y, Ochi M, Yoshioka H, Takaya K, Kizaki Z, Inoue E, Furuya S, Naruse S (1995) Cerebral MRI and spots in Sjögren-Larsson syndrome: case report. Neuroradiology 37: 225–228.

    Article  PubMed  CAS  Google Scholar 

  • Pardo-Castello V, Faz H (1932) Ichthyosis-Little’s disease. Arcj Dermatol Syph (Chicago) 26: 915.

    Google Scholar 

  • Pigg M, Jagell S, Sillen A, Weissenbach J, Gustavson KH, Wadeuius C (1994) Sjögren-Larsson syndrome. Pirgon O, Aydin K, Atabek ME(2006)Protonmagne tic close to D17S805 as determined by linkage analysis and allelic association. Nat Genet 8: 381–384.

    Article  Google Scholar 

  • Pirgon O, Aydin K, Atabek ME (2006) Proton magnetic resonance spectroscopy findings and clinical effects of montelukast sodium in a case with Sjögren-Larsson syndrome. J Child Neurol 21: 1092–1095.

    Article  PubMed  Google Scholar 

  • Pisani D, Cacchione A (1935) Frenastenia e dermatosi. Riv Sper Freniat 58: 722–736.

    Google Scholar 

  • Rizzo WB (1999) Sjögren-Larsson syndrome: explaining the skin-brain connection. Neurology 52: 1307–1308.

    PubMed  CAS  Google Scholar 

  • Rizzo WB (2006) Sjögren-Larsson syndrome. E-medicine from webMD. http://www.emedicine.com/ped/ topic2111.httm

    Google Scholar 

  • Rizzo WB (2007) Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab 90: 1–9.

    Article  PubMed  CAS  Google Scholar 

  • Rizzo WB, Craft DA (1991) Sjögren-Larsson syndrome. Deficit activity of the fatty aldehyde dehydrogenase component of fatty alcohol: NAD + oxidoreductase in cultured fibroblasts. J Clin Invest 88: 1643–1648.

    Article  PubMed  CAS  Google Scholar 

  • Rizzo WB, Carney G (2005) Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat 26: 1–10.

    Article  PubMed  CAS  Google Scholar 

  • Rizzo WB, Damman AL, Craft DA (1988) Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol: nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest 81: 738–744.

    Article  PubMed  CAS  Google Scholar 

  • Rizzo WB, Carney G, Lin Z (1999) The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet 65: 1547–1560.

    Article  PubMed  CAS  Google Scholar 

  • Rogers GR, Markova NG, De Laurenzi V, Rizzo WB, Compton JG (1997) Genomic organization and expression of the human fatty aldehyde hydrogenase gene (FALDH). Genomics 39: 127–135.

    Article  PubMed  CAS  Google Scholar 

  • Sillén A, Jagell S, Wadelius C (1997) A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients origination from the northern part of Sweden. Hum Genet 100: 201–203.

    Article  PubMed  Google Scholar 

  • Silva CA, Saraiva A, Goncales V, de Sousa G, Martins R, Cruz C (1980) Pathologial findings in one of two siblings with Sjögren-Larsson syndrome. Eur Neurol 19: 166–170.

    Article  PubMed  CAS  Google Scholar 

  • Sjögren T (1956) Oligophrenia combined with congenital ichthyosiform erythrodermia, spastic syndrome and macular-retinal degeneration. A clinical and genetic study. Acta Genet Stat Med 6: 80–91.

    PubMed  Google Scholar 

  • Sjögren T, Larsson T (1957) Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr Neurol Scand 32(Suppl 113): 1–113.

    Google Scholar 

  • Sylvester PE (1969) Pathological findings in Sjögren-Larsson syndrome. J Ment Defic Res 13: 267–275.

    PubMed  CAS  Google Scholar 

  • Tsukamoto N, Chang C, Yoshida A (1997) Mutations associated with Sjögren-Larsson syndrome. Ann Hum Genet 61: 235–242.

    PubMed  CAS  Google Scholar 

  • van der Brink DM, van Miert JM, Wanders RJ (2005) A novel assay for the prenatal diagnosis of Sjögren-Larsson syndrome. J Inherit Metab Dis 28: 965–969.

    Article  PubMed  CAS  Google Scholar 

  • Van der Knaap M, Valk J (2005) Magnetic resonance of myelinisation and myelin disorders, 3rd ed. Berlin: Springer Verlag, pp. 383–386.

    Google Scholar 

  • Van Domburg PH, Willemsen MA, Rotteveel JJ, de Jong JG, Thijssen HO, Heerschap A, Cruysberg JR, Wanders RJ, Gabreels FJ, Steijlen PM (1999) Sjögren-Larson syndrome. Clinical and MRI/MRS findings in FALDH-deficit patients. Neurology 52: 1345–1352.

    PubMed  Google Scholar 

  • Verhoog J, Fuijkschot J, Willemsen M, Ketelaar M, Rotteveel J, Gorter JW (2008) Sjögren-Larsson syndrome: motor performance and everyday functioning in 17 patients. Dev Med Child Neurol 50: 38–43.

    Article  PubMed  Google Scholar 

  • Willemsen MA, Rottveel JJ, van Domburg PH, Gabreëls FJM, Mayatepek E, Sengers RCA (1999) Preterm birth in Sjögren-Larsson syndrome. Neuropediatrics 30: 325–327.

    Article  PubMed  CAS  Google Scholar 

  • Willemsen MA, Rotteweel JJ, Steijlen PM, Heerschap A, Mayatepe E (2000a) 5-Lipoxygenase inhibition: a new treatment strategy for Sjögren-Larsson syndrome. Neuropediatrics 31: 1–3.

    Article  PubMed  CAS  Google Scholar 

  • Willemsen MA, Cruysberg JR, Rotteveel JJ, Aandekerk AL, van Domburg PH, Deutman AF (2000b) Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome. Am J Ophthalmol 130: 782–789.

    Article  PubMed  CAS  Google Scholar 

  • Willemsen MA, Ijlst L, Steijlen PM, Rotteveel JJ, dejong JGN, van Domburg PH, Mayatepek E, Gabreels FJ, Wanders RJ (2001a) Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain 124: 1426–1437.

    Article  PubMed  CAS  Google Scholar 

  • Willemsen MA, Lutt MAJ, Steijlen PM, Cruysberg JRM, van der Graaf M, Nijhuis-van der Sanden MWG, Pasman JW, Mayatepek E, Rotteveel JJ (2001b) Clinical and biochemical effects of Zileuton in patients with the Sjögren-Larsson syndrome. Eur J Pediatr 160: 711–717.

    PubMed  CAS  Google Scholar 

  • Willemsen MA, Van Der Graaf M, Van Der Knaap MS, Heerschap A, Van Domburg PH, Gabreels FJ, Rotteveel JJ (2004) MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy. Am J Neuroradiol 25: 649–657.

    PubMed  Google Scholar 

  • Willemsen MA, Telen T, Fuijckschot J, Rotteveel JJ, Cruysberg JRM (2005) The crystalline retinopathy in Sjögren-Larsson syndrome: new insights by a novel imaging technique. Eur J Paediatr Neurol 9: 272 (Abstract).

    Google Scholar 

  • Willemsen MA, Rotteveel JJ (2008) Mongolian spots in Sjögren-Larsson syndrome. Pediatr Dermatol 25: 285.

    Article  PubMed  Google Scholar 

  • Williams ML, Bruckner AL, Nopper AJ (2006) Generalized disorders of cornification (the Ichthyoses). In: Harper J, Oranje A, Prose N (eds.) Textbook of Pediatric Dermatology, 2nd ed. Oxford: Blackwell Science, pp. 1304–1358.

    Google Scholar 

  • Yamaguchi K, Handa T (1998) Sjögren-Larsson syndrome. postmortem brain abnormalities. Pediatr Neurol 18: 338–341.

    Article  PubMed  CAS  Google Scholar 

  • Zalewska A (2006) Sjögren-Larsson syndrome. E-medicine from webMD. http://www.emedicine.com/derm/ topic706.httm

    Google Scholar 

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Ruggieri, M., Pascual-Castroviejo, I. (2008). SjÖgren-Larsson Syndrome. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_39

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  • DOI: https://doi.org/10.1007/978-3-211-69500-5_39

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