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Ocular features of Sjogren?Larsson syndrome
Clinical and Experimental Ophthalmology, 2007AbstractSjogren–Larson syndrome is a rare autosomal recessive neurocutaneous disorder characterized by a triad of intellectual disability, spastic diplegia or tetraplegia and congenital ichthyosis with associated ocular features, which include pigmentary changes in the retina.
Hiten G Sheth
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Typical Neuroradiological Features of Sjogren-Larsson Syndrome
Neuroradiology Journal, 2009Sjogren-Larsson syndrome is a rare inherited autosomal recessive neurocutaneous disorder with typical findings on MRI. We describe the typical MRI and MR Spectroscopy findings in a clinically diagnosed case of Sjogren-Larsson syndrome ...
G, Srinivasan +3 more
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Sjogren-Larsson syndrome in clinical practice
, 2012 This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjogren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician ...
Fuijkschot, J. +13 more
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Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 1996
A 9-year-old boy with classical features of Sjogren-Larsson syndrome was reported. He had had diffuse dry skin with ichthyotic scales since birth. The skin biopsy was compatible with ichthyosis. At the age of two he was unable to walk normally and also had learning problems.
K, Phanthumchinda +2 more
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A 9-year-old boy with classical features of Sjogren-Larsson syndrome was reported. He had had diffuse dry skin with ichthyotic scales since birth. The skin biopsy was compatible with ichthyosis. At the age of two he was unable to walk normally and also had learning problems.
K, Phanthumchinda +2 more
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Sjogren‐Larsson syndrome associated hypermelanosis
Journal of Cosmetic Dermatology, 2019AbstractBackground/ObjectivesSjogren – Larsson syndrome (SLS) is a rare autosomal recessive disease of the mutation ALDH3A2 that identifies a part of fatty acids for fatty aldehyde dehydrogenase: NAD‐oxidoreductase enzyme complex. This study aimed to access variant ALDH3A2 gene coded for FALDH and products regulating pathogenic melanogenesis owing to ...
Yang‐Chun Xu +3 more
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2008
Sjogren-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).
RUGGIERI, MARTINO +1 more
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Sjogren-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).
RUGGIERI, MARTINO +1 more
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Sjogren Larsson syndrome: a case report
2015Sjogren Larsson sendromu konjenital ihtiyozis, spastik diplejitetrapleji ve mental retardasyon He karakterize otozomal resesif geçişli bir hastalıktır. Hastalardaki temel patoloji yağ alkol oksıdasyon bozukluğundaki yetmezliktir. Bu çalışmada ihtiyozis, spastik dipleji, serebral kortikal atroji ve subdural efuzyon nedeniyle izlediğimiz 11 aylık bir kız
ÖZGEN, Dr. Ünsal +6 more
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[Sjogren-Larsson syndrome. Apropos of a case].
Annales de dermatologie et de venereologie, 1988Sjögren-Larsson syndrome is a rare genodermatosis described by Sjögren and Larsson in 1957 (28) and characterized by ichthyosis, spastic di- or tetraplegia and oligophrenia. In the case reported here a female child, born to consanguineous parents, presented at birth as a "collodion baby".
J L, Bonafé +4 more
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Sjogren - Larsson Syndrome: a case report.
Neurology India, 2002Two male siblings aged 8 and 11 years, born of non-consanguineous parents, presented with classical triad of congenital ichthyosis, mental retardation and spastic diplegia. They had no eye, hair, nails and teeth changes. MRI showed diffuse dysmyelination.
A K, Dhanuka, M, Gupta
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The Sjogren-Larsson syndrome in a north Indian sibship
The Indian Journal of Pediatrics, 1991B K, Thakur, E H, Smith
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