Sjogren larsson syndrome, spastic paraplegia, icthyosis, glistening white dots, leukoencephalopathy. Sjogrenlarsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The orthopaedic presentation and management of sjogrenlarsson syndrome. Topical treatment of sjogren larsson syndrome with calcipotriol. Some sort of trigger is also needed, such as a viral or bacterial. Sjogren larsson syndrome is a rare autosomal recessively inherited neurocutaneous disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental. Dec 27, 2018 the sjogren larsson syndrome is sometimes called the t. Sjogrenlarsson syndrome sls is a rare, autosomalinherited, cerebral palsy disorder that is characterized by dry, scaly skin ichthyosis, neurological problems spastic diplegia, usually involving the legs, or tetraplegia, eye problems, varying degrees of intellectual disability and developmental delay. Several different genes appear to affect the risk of developing the condition, but specific genes have not been confirmed.
Sjogren larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. Oct 30, 20 sjogren larsson syndrome sls is a rare genetic disease in which patients typically exhibit ichthyosis dry, scaly skin, intellectual disability, spasticity, seizures and a distinctive maculopathy. Click on the link to view a sample search on this topic. Sjogrenlarsson syndrome sls is a neurocutaneous syndrome caused by a genetic enzyme deficiency in lipid metabolism. Affected infants develop various degrees of reddened skin with fine scales soon after birth. Sahana m srinivas at indira gandhi institute of child health. Simply having one of these genes does not cause a person to develop the disease. Sjogren syndrome to distinguish it from the sicca syndrome, which was described by henrick sjogren, a swedish ophthalmologist.
Singlevoxel proton mr spectra were acquired from cerebral white matter and. These symptoms are apparent by early childhood and usually do not worsen with age. Pubmed is a searchable database of medical literature and lists journal articles that discuss sjogren larsson syndrome. Sjogren syndrome genetic and rare diseases information. Atypical presentation of sjogrenlarsson syndrome hindawi. Ichthyosis dry skin spastic diplegia or tetraplegia forms of cerebral palsy intellectual impairment. Anders johan sjogren 17941855, finnish linguist, historian, ethnographer and explorer. A study of topical ns2 cream to treat ichthyosis in.
If you have problems viewing pdf files, download the latest version of adobe reader. Enzymatic diagnosis of sjogren larsson syndrome using electrospray ionization mass spectrometry. It seems more common in north sweden than elsewhere in europe and has been estimated as having the incidence of 10. We report a typical case of sjogrenlarsson syndrome in a male patient, aged 20.
A study of topical ns2 cream to treat ichthyosis in sjogrenlarsson syndrome sls the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Files are available under licenses specified on their description page. Pdf sjogrenlarsson syndrome sls is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic. For language access assistance, contact the ncats public information officer. Sep 21, 2012 genetics home reference ghr contains information on sjogren larsson syndrome. The sjogren larsson syndrome is a neurocutaneous, autosomal recessive and disabling condition, characterized by. We report a typical case of sjogren larsson syndrome in a male patient, aged 20.
Sjogren larsson syndrome sls is a rare autosomal recessive inborn error of lipid metabolism due to mutations in the aldh3a2 that result in. Cataract and lens replacement day of surgery and postoperative instructions. Sjogren larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nad oxidoreductase in cultured skin fibroblasts 7 andor sequence analysis of aldh3a2 gene on the locus 17p11.
Sjogrenlarsson syndrome sls is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetraplegia, and mental. This page was last edited on 6 october 2019, at 08. A study of topical ns2 cream to treat ichthyosis in sjogren. Sjogrenlarsson syndrome sls is an autosomal recessive disorder characterized by ichthyosis, mental. Sjogrenlarsson syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. Sjogrenlarsson syndrome fatty aldehyde dehydrogenase deficiency disease sjogren larsson syndrome. Restoration of fatty aldehyde dehydrogenase deficiency in sjogrenlarsson syndrome.
The second identifier is paraplegia which is characterized by leg spasms. Pubmed is a searchable database of medical literature and lists journal articles that discuss sjogrenlarsson syndrome. Diagnosis of sjogren larsson syndrome is confirmed by measurement of faldh or fatty alcohol. Listing a study does not mean it has been evaluated by the u. Our purpose was to characterize the nature of the cerebral involvement in sls. This website is maintained by the national library of medicine. Transfoveal oct scan of a patient with sjogren larsson syndrome.
Sjogrenlarsson syndrome sls is a rare genetic disease in which patients typically exhibit ichthyosis dry, scaly skin, intellectual disability, spasticity, seizures and a distinctive maculopathy. May 28, 2019 sanders rj, ofman r, dekker c, kemp s, wanders rj. Willemsen ma, cruysberg jr, rotteveel jj, aandekerk al, van domburg ph, deutman af. The sjogren the sjogren larsson syndrome is a neurocutaneous, autosomal recessive and.
The splice site mutations led to exon skipping or utilization of cryptic acceptorsplice sites. The sjogren of the sjorgren larsson syndrome was torsten sjogren 18961974, professor of psychiatry at the celebrated karolinska hospital in stockholm and a. This has rarely been described in people of indian origin, case reports mainly being restricted to caucasians. Users can purchase an ebook on diskette or cd, but the most popular method of getting an ebook is to purchase a downloadable file of the ebook or other reading material from a web site such as barnes and noble to be read from the users computer or reading device. Dermnetnz provides information on ichthyosis in general. The most common symptoms and signs are variable degrees of. Carrier screening to help detect the risk of having a baby with a specific inherited disorder, such as cystic fibrosis. Ann mari sjogren, swedish fantasy artist and illustrator. Dermatologic manifestations of sjogrenlarsson syndrome. The sjogrenlarsson syndrome is a genetic disease usually characterized by a triad of clinical findings consisting of ichthyosis thickened fishlike skin, spastic paraplegia spasticity of the legs and mental retardation the skin changes in the sjogrenlarsson syndrome are similar to those in congenital ichthyosiform erythroderma, a genetic disease that results. Sjogren syndrome likely results from a combination of genetic and environmental factors it appears to be multifactorial. Sjogrenlarsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms.
Sjogrenlarsson syndrome definition of sjogrenlarsson. Gupta, amit mittal, 1 baljeet maini, and sanjeev gupta 2 department of pediatrics, mm institute of medical sciences and research, mullana, ambala, india. What are the clinical features of sjogrenlasson syndrome. At birth the skin is red erythema, but later in infancy the skin becomes dry, rough. Sjogrenlarsson syndrome sls is an inherited disorder characterized by scaling skin ichthyosis, intellectual disability, speech abnormalities, and spasticity. The purpose of this study is to define the clinical spectrum and natural history of sjogrenlarsson syndrome, and identify biomarkers that.
Sjogren larsson syndrome sls is a rare neuroectodermal genodermatosis inherited as an autosomal recessive disorder. The involvement of brain and skin is justified by a mutation in faldh gene that affects the metabolism of fatty acids and leads to abnormal accumulation of lipids. Sjogrenlarsson syndrome sls is a recessively inher ited disease with congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation, caused by. Oct 23, 2015 cataract and lens replacement day of surgery and postoperative instructions. We have describeda 6yearold girl with classical features of this syndrome, the symptoms having started in. The disorder is characterized by the presence of congenital ichthyosis, mental retardation, and spastic ditetraplegia. Sjogren 1956 and sjogren and larsson 1957 suggested that all of their. Mr imaging was performed in 18 patients aged 5 months to 45 years and repeated in 14. The skin changes in sjogrenlarsson syndrome are similar to those of congenital ichthyosiform erythroderma, although considerable variations in severity have been described goldsmith et al. Sjogren larsson syndrome sls is an inherited disorder characterized by scaling skin ichthyosis, intellectual disability, speech abnormalities, and spasticity. Pdf topical treatment of sjogrenlarsson syndrome with. Presentation as a collodion baby has been described, but it is unusual scaling more usually develops after infancy.
Sjogrenlarsson syndrome nord national organization for. All structured data from the file and property namespaces is available under the creative commons cc0 license. In addition, sjogren syndrome may cause skin, nose, and vaginal dryness. Deficiency in this enzyme causes the sjogren larsson syndrome, a rare inherited disorder characterized by ichthyosis. Pdf sjogrenlarsson syndrome in clinical practice researchgate.
Dermnetnz is an online resource about skin diseases developed by the new zealand dermatological society incorporated. The ichthyosis usually evident at birth may be seen in some patients after the first year of life. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Sjogrenlarsson syndrome is a rare inherited disorder that affects the skin and nervous system. Sjogrenlarsson syndrome how is sjogrenlarsson syndrome. Sjogrenlarsson syndrome sls is a rare neurocutaneous disorder caused by deficient activity of fatty aldehyde dehydrogenase faldh and is characterized. The normal formation of multilamellar membranes in the stratum corneum and myelin is impaired. Definition of syndrome, sjogrenlarsson medicinenet.
After infancy, the skin loses its redness and dark scales often appear on the neck and. The first is ichthyosis, which is a buildup of skin to form a scalelike covering that causes dry skin and other problems. Mr imaging and proton mr spectroscopic studies in sjogren. Sjogrenlarsson syndrome genetics home reference nih. Sjogren larsson syndrome is a condition characterized by dry, scaly skin ichthyosis. Sls is an inherited neurocutaneous disorder caused by mutations in the aldh3a2 gene that encodes fatty aldehyde dehydrogenase faldh. The sjogrenlarsson syndrome is a genetic disease usually characterized by a triad of clinical findings consisting of ichthyosis thickened fishlike skin, spastic paraplegia spasticity of the legs and mental retardation. The skin changes in the sjogrenlarsson syndrome are similar to those in congenital ichthyosiform erythroderma, a genetic disease that results. Aslam sa, sheth hg 2007 ocular features of sjogrenlarsson syndrome. Sjogrenlarssonsyndrom fettaldehyddehydrogenasemangel.
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