Sjogren–larsson syndrome: A rare case report
Indian Dermatology Online Journal, 2018 Shah V, Rambhia K, Mukhi J, Singh RP.
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Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report [PDF]
BMC Medical Genetics, 2018 Background Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia ...
Kye Hee Cho +4 more
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Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum [PDF]
JIMD Reports, 2020 Sjögren‐Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase.
Pippa Staps +8 more
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End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature [PDF]
Therapeutic Advances in Rare Disease, 2022 Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive neurocutaneous disorder. It is caused by the inheritance of sequence variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH).
Lester H. Lambert +3 more
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Karl Gustaf Torsten Sjögren and the Sjögren-Larsson syndrome [PDF]
Dermatology Reports, 2011 Karl Gustaf Torsten Sjögren (1896-1974) a Swedish psychiatrist and geneticist, was a pioneer of modern Swedish psychiatry. Sjögren studied medicine at the University of Uppsala.
Khalid Al Aboud, Daifullah Al Aboud
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Atypical Presentation of Sjögren-Larsson Syndrome [PDF]
Case Reports in Pediatrics, 2017 Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal
D. Papathemeli +6 more
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Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation [PDF]
Molecular Genetics & Genomic Medicine, 2020 Backgroundd Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital ichthyosis, and intellectual disability.
Kamel T. Abidi +5 more
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Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome [PDF]
Clinical Case Reports, 2018 Key Clinical Message Sjögren–Larsson syndrome (SLS) is a rare type of congenital ichthyosis with neurological problems and intellectual disability. Homozygous mutations in ALDH3A2 gene are known to be responsible for this syndrome.
Maryam Taghdiri +3 more
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A case report: Sjogren Larsson Syndrome [PDF]
Clinical Practice, 2019 Sjogren-Larsson Syndrome (SLS) is an autosomal recessive disorder with 100% penetrance. It has a characteristic set of clinical features, ichthyosis, spastic diplegia, and severe learning difficulties. To educate the patients about the treatment of dry skin and proper counseling regarding the genetic basis of disease are needed.
Desale Snehal +3 more
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Sjögren-Larsson syndrome: A study of clinical symptoms in six children
Indian Dermatology Online Journal, 2014 Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation.
Sahana M Srinivas +2 more
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