Pdf sjogrenlarsson syndrome in clinical practice researchgate. Steven carsons and an expert committee of the sjogrens syndrome foundation have published a clinical practice guidelines cpgs and recommendations for the managment of sjogrens syndrome. Pubmed is a searchable database of medical literature and lists journal articles that discuss sjogren larsson like syndrome. Genetics of sjogren larsson syndrome and a case report from india. This is a temporary file and hence do not link it from a website, instead link the url of this page if you wish to link the pdf file. Singlevoxel proton mr spectra were acquired from cerebral white matter and. Affected infants develop various degrees of reddened skin with fine scales soon after birth. Sjogrenlarsson syndrome nord national organization for. New insight into the pathogenesis of sjogrenlarsson syndrome is emerging from knowledge about the metabolic role of this enzyme. Sjogrenlarsson syndrome sls foundation for ichthyosis.
Herein, we describe a case of a greek patient with ichthyosis and spasticity of the legs but with normal intelligence iq 95. All structured data from the file and property namespaces is available under the creative commons cc0 license. If you have problems viewing pdf files, download the latest version of. The new sjogrens syndrome handbook kindle edition by sjogrens syndrome foundation, daniel j.
The gene that is altered in patients with sjogrenlarsson syndrome is the aldehyde dehydrogenase 3a2 aldh3a2 gene. If you have problems viewing pdf files, download the latest version of adobe reader. This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if. The normal formation of multilamellar membranes in the stratum corneum and myelin is impaired. This page was last edited on 6 october 2019, at 08.
A patient friendly description of sjogrenlarsson syndrome sls. Patients with secondary sjogrens syndrome also have signs and symptoms associated with rheumatic disorder. Pubmed is a searchable database of medical literature and lists journal articles that discuss sjogren larsson syndrome. Sjogrens syndrome foundations 2017 sjogrens treatment. 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. Rare inborn error of lipid metabolism, characterized by congenital ichthyosis, mental. Sjogrenlarsson syndrome an overview sciencedirect topics.
Sjogrens syndrome causes increased levels of il1ra in csf suggesting increased activity in the interleukin 1 system and that this is associated with increased fatigue through cytokine induced sickness behavior2. Sjogren larsson syndrome sls is a rare autosomal recessive inborn error of lipid metabolism due to mutations in the aldh3a2 that. Pdf sjogrenlarsson syndrome sls is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic. Patients are usually born with evidence of ichthyosis, but they soon show developmental delay in the first year or two of life, especially in their motor abilities such as sitting up or walking. Sep 21, 2012 pubmed is a searchable database of medical literature and lists journal articles that discuss sjogren larsson syndrome. Mar 30, 2015 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. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal.
Patients with secondary sjogren s syndrome also have signs and symptoms associated with rheumatic disorder. The ichthyosis usually evident at birth may be seen in some patients after the first year of life. Presentation as a collodion baby has been described, but it is unusual scaling more usually develops after infancy. According to these authors, the syndroriie is characterized by congenital stationary lowgrade oligophrenia, congenital stationary pronounced ichthyosis, which may be diagnosed as ichthyosiform erythrodermia, and congenital symmetric spastic pyramidal symptoms in the extremities, especially. Dhanuka ak, gupta m dayanand medical college, 907 2a, tagore nagar, ludhiana 141001, punjab, india. Sjogren larsson syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. Sls is caused by mutations in a gene called fatty aldehyde dehydrogenase, or fadh. Abstract sjogren larsson syndrome sls is a rare autosomal disorder that is characterised by congenital ichthyosis, spastic diplegia or qudriplegia and. Sjogrenlarsson syndrome sls is an inherited neurocutaneous disease characterized by ichthyosis, mental retardation and spastic diplegia or tetraplegia 6. Sjogren larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. Sjogrenlarsson syndrome genetic and rare diseases information. Sjogrenlarssonlike syndrome genetic and rare diseases. The sjogrenlarsson syndrome jama ophthalmology jama.
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. We describe a young woman with spastic diplegia and intellectual. Presentation as a collodion baby has been described, but it is unusual. Magnetic resonance of myelination and myelin disorders, 3rd, springer, new york 2005. Oct 28, 2018 the genetic defect in sjogrenlarsson syndrome results in deficient activity of faldh, which catalyzes the oxidation of fatty aldehyde to fatty acid. A rare form of ichthyosis accompanied by spastic paraplegia and delayed mental development. Carrier screening to help detect the risk of having a baby with a specific inherited disorder, such as cystic fibrosis. It seems more common in north sweden than elsewhere in europe and has been estimated as having the incidence of 10. Sjogrenlarsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms 485. The cutaneous symptoms of ichthyosis are usually apparent in the neonatal period as dry, scaly skin, which has a generalized distribution and is typically pruritic itchy in.
Our purpose was to characterize the nature of the cerebral involvement in sls. Sjogren syndrome to distinguish it from the sicca syndrome see 200400, 270150, which was described by henrick sjogren, swedish ophthalmologist born in 1899. Sjogrenlarsson syndrome sls is a rare neurocutaneous disorder caused by deficient activity of fatty aldehyde dehydrogenase faldh and is characterized. Genes provide instructions for creating proteins that play a critical role in many functions of the body. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. The second identifier is paraplegia which is characterized by leg spasms. Sjogren larsson syndrome sls is a rare neuroectodermal genodermatosis inherited as an autosomal recessive disorder. Sjogrens syndrome foundations 2017 sjogrens treatment guidelines by jack cush, md 23 march 2017. Download it once and read it on your kindle device, pc, phones or tablets.
Abnormal lipid accumulation in the membranes of the skin and brain results in cutaneous and neurologic manifestations. Teri rumpf is a clinical psychologist and kathy hammitt is past president of the sjogren s syndrome foundation. In addition, a characteristic retinopathy has been noted. Sjogrenlarsson syndrome sls is a neurocutaneous syndrome caused by a genetic enzyme deficiency in lipid metabolism. Sjogren s syndrome causes increased levels of il1ra in csf suggesting increased activity in the interleukin 1 system and that this is associated with increased fatigue through cytokine induced sickness behavior2. Robert fox provides an update on diagnosing and managing sjogrens syndrome based on data presented at the 2011 american college of rheumatology annual meeting. The sjogrenlars5on syndrome sls was described first by two swedes, sjogretn and larsson, in 1957. Children with sjogrenlarsson syndrome have red, dry skin from birth. Sjogrenlarsson syndrome is a hereditary neurocutaneous syndrome that is nonprogressive in nature. Sls is an inherited neurocutaneous disorder caused by mutations in the aldh3a2 gene that encodes fatty aldehyde dehydrogenase faldh. Diagnosis and management of sjogren syndrome paul kruszka, lcdr, usphs, u.
Please note, for carriertargeted variant tests the approval status depends on whether the gene is in an approved genedx singlegene or. It gives the reader a comprehensive, but plain spoken, perspective on living with this complex disease. What are the clinical features of sjogrenlasson syndrome. It is characterized by dysfunction and destruction of the exocrine glands associated with lymphocytic infiltrates and immunological. Sjogrens syndrome ichthyosis sjogrenlarsson syndrome syndrome. By continuing to use our website, you are agreeing to our use of cookies. The faldh enzyme is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy.
Sjogrens syndrome is an autoimmune condition, which means it occurs as a result of a malfunctioning immune system. Sjogrens syndrome is a relatively common condition that mainly affects the eyes and salivary glands, but can affect different parts of the body. The skin changes respond well to 1 to 2 mgkgday of oral etretinate. Aug 29, 2018 sjogren larsson syndrome is a hereditary neurocutaneous syndrome that is nonprogressive in nature. Click on the link to view a sample search on this topic. The sjogrenlarsson syndrome jama ophthalmology jama network. Mr imaging and proton mr spectroscopic studies in sjogren. Sjogrenlarsson syndrome sls is an autosomal recessive condition characterized by a triad of ichthyosis, mental deficiency, and spastic diplegia or tetraplegia, which was first described in 1957 sjogren and larsson, 1957. The patients have deficient activity of the aldehyde portion fatty. Sjogren larsson syndrome introduction sjogren larsson syndrome sls is a rare autosomal recessive, neurocutaneous disorder. Mr imaging was performed in 18 patients aged 5 months to 45 years and repeated in 14. Sjogren larsson syndrome is a condition characterized by dry, scaly skin ichthyosis.
Sjogren syndrome sjs, ss is a longterm autoimmune disease that affects the bodys moistureproducing glands. Sjogrenlarsson syndrome genetics home reference nih. Sls is a form of ichthyosis associated with other symptoms involving the brain and nervous system. Sjogren larsson syndrome sls is an inherited disorder characterized by scaling skin ichthyosis, intellectual disability, speech abnormalities, and spasticity. All these clinical and radiological findings were diagnostic of sjogren larsson syndrome. Sjogrenlarsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The purpose of this study is to define the clinical spectrum and natural history of sjogrenlarsson syndrome, and identify biomarkers that. Dermatologic manifestations of sjogrenlarsson syndrome. The protein that is made by this gene is responsible for breaking down certain molecules called medium and longchain fatty aldehydes. Use features like bookmarks, note taking and highlighting while. Sjogrenlarsson syndrome sls is an autosomal recessive neurocutaneous disorder. Sls is caused by alterations mutations in the gene for an enzyme fatty aldehyde dehydrogenase that is necessary for metabolism of certain unusual fats lipids called fatty aldehyde and fatty alcohol.
Sahana m srinivas at indira gandhi institute of child health. Neurodegeneration in an adolescent with sjogrenlarsson. Sjogren larsson syndrome manifests with congenital ichthyosis with generalized but variable distribution and quality in the first year of life. 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 aldh3a2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase faldh. Indian dermatology online journal sjogrenlarsson 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. Mutations in the aldh3a2 gene cause sjogrenlarsson syndrome. Sjogrens syndrome foundations 2017 sjogrens treatment guidelines by jack cush, md 23 march 2017 dr.
Other symptoms can include dry skin, vaginal dryness, a chronic cough, numbness in the arms and legs, feeling tired, muscle and joint pains, and thyroid problems. Sjogrenlarsson syndrome is characterized by congenital ichthyosis, mental retardation and spastic diplegia or quadriplegia. A study of topical ns2 cream to treat ichthyosis in sjogren. Sjogrenlarsson syndrome definition of sjogrenlarsson.
Transfoveal oct scan of a patient with sjogren larsson syndrome. The first is ichthyosis, which is a buildup of skin to form a scalelike covering that causes dry skin and other problems. Patients are usually born with evidence of ichthyosis, but they soon show developmental delay in the first year or two of life, especially in their motor abilities. A mouse model for sjogrenlarsson syndrome produced by.
Other characteristic features are delayed motor development due to spastic diplegia or tetraplegia, mental retardation, speech delay, short stature, and seizures. This has rarely been described in people of indian origin, case reports mainly being restricted to caucasians. For language access assistance, contact the ncats public information officer. The new sjogrens syndrome handbook kindle edition by. Those affected are at an increased risk 5% of lymphoma.
Atypical presentation of sjogrenlarsson syndrome hindawi. Sjogrenlarsson syndrome sls is inherited as an autosomal recessive trait. 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. A rare neurocutaneous disorder caused by an inborn error of lipid metabolism. Sjogrens syndrome ss is a chronic autoimmune disorder. Sjogrenlarsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. People with this condition may also have neurological signs and symptoms. Sjogren larsson syndrome is characterized by congenital ichthyosis, mental retardation and spastic diplegia or quadriplegia. If fadh is not functioning properly, these and related molecules build up in the body, leading to.
Sjogrenlarsson syndrome an autosomal recessive condition omim. This rare syndrome harbors mutations in the aldh3a2 gene located on chromosome 17p11. Files are available under licenses specified on their description page. The disorder is characterized by the presence of congenital ichthyosis, mental retardation, and spastic ditetraplegia. Striking ophthalmoscopic changes were documented in this case, and the first report of fluorescein angiograms of the macular changes in this syndrome was made. Although neuroregression has been reported in seizureprone preschool children requiring antiepileptic treatment, teenageonset dystonia precipitating neurodegeneration without any immediate causal events has yet to be reported. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for sjogrenlarsson syndrome. Results of an enzymatic assay and genomic dna testing in cultured skin fibroblasts confirmed a homozygous c237y mutation. Teri rumpf is a clinical psychologist and kathy hammitt is past president of the sjogrens syndrome foundation. Defective metabolism of leukotriene b4 in the sjogrenlarsson syndrome. We use cookies to offer you a better experience, personalize content, tailor advertising, provide social media features, and better understand the use of our services.
Sjogrenlarsson syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. A study of topical ns2 cream to treat ichthyosis in. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. Pubmed is a searchable database of medical literature and lists journal articles that discuss sjogrenlarsson syndrome. Sjogren larsson like ichthyosis without cns or eye involvement.