Sjögren–Larsson syndrome in clinical practice

• Published in: Journal of inherited metabolic disease Vol. 35; no. 6; pp. 955 - 962
• Main Authors: Fuijkschot, Joris, Theelen, Thomas, Seyger, Marieke M. B., van der Graaf, Marinette, de Groot, Imelda J. M., Wevers, Ron A., Wanders, Ronald J. A., Waterham, Hans R., Willemsen, Michèl A. A. P.
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.11.2012; Springer; Blackwell Publishing Ltd
• Subjects: Aldehyde Oxidoreductases - deficiency; Aldehyde Oxidoreductases - genetics; Bezafibrate - therapeutic use; Biochemistry; Biological and medical sciences; Brain - pathology; Brain - physiopathology; Carotenoids - therapeutic use; Dermatology; Eye - pathology; Female; Genetic Therapy; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue; Human Genetics; Humans; Infant, Newborn; Internal Medicine; Male; Medical genetics; Medical sciences; Medicine; Medicine & Public Health; Metabolic Diseases; Metabolic Dissertation; Mutation; Pediatrics; Pregnancy; Premature Birth; Sjogren-Larsson Syndrome - diagnosis; Sjogren-Larsson Syndrome - genetics; Sjogren-Larsson Syndrome - physiopathology; Sjogren-Larsson Syndrome - therapy; Skin - pathology; LTB4; Optical Coherence Tomography; Preterm Birth; Carotenoid; Fatty Alcohol; Eye disease; Skin disease; Nervous system diseases; Nutrition; Professional practice; Genetics; Metabolic diseases; Degenerative disease; Sjögren-Larsson syndrome; Genetic disease
• ISSN: 0141-8955; 1573-2665; 1573-2665
• DOI: 10.1007/s10545-012-9518-6

This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren–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 toward the diagnosis SLS. Furthermore, current and future treatment strategies are discussed to render a comprehensive review of the topic.