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