The most common symptoms and signs are variable degrees of. Enzymatic diagnosis of sjogren larsson syndrome using electrospray ionization mass spectrometry. We report a typical case of sjogrenlarsson syndrome in a male patient, aged 20. Affected infants develop various degrees of reddened skin with fine scales soon after birth. Listing a study does not mean it has been evaluated by the u. Sjogrenlarsson syndrome baylor college of medicine. Dermatologic manifestations of sjogrenlarsson syndrome. Individuals with sjogrenlarsson syndrome a have a deficiency in the enzyme fatty aldehyde dehydrogenase, which breaks down fatty aldehydes and fatty alcohols. Files are available under licenses specified on their description page.
Sjogren larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The second identifier is paraplegia which is characterized by leg spasms. A sjogrens patients treatment path should be decided on a casebycase basis after the potential benefits and sideeffects are weighed by patients and their healthcare providers. Carrier screening to help detect the risk of having a baby with a specific inherited disorder, such as cystic fibrosis.
In addition, sjogren syndrome may cause skin, nose, and vaginal dryness. Mutations in the aldh3a2 gene cause sjogrenlarsson syndrome. Sjogrenlarsson syndrome fatty aldehyde dehydrogenase deficiency disease sjogren larsson syndrome. Hmrs findings of three patients with sjogrenlarsson.
Sjogrenlarsson syndrome sls is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetraplegia, and mental. Sjogrenlarsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms. 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 faldh enzyme is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy. The normal formation of multilamellar membranes in the stratum corneum and myelin is impaired. The sjogren of the sjorgren larsson syndrome was torsten sjogren 18961974, professor of psychiatry at the celebrated karolinska hospital in stockholm and a. We report a typical case of sjogren larsson syndrome in a male patient, aged 20. Sjogrenlarsson syndrome sls is an inherited disorder characterized by scaling skin ichthyosis, intellectual disability, speech abnormalities, and spasticity. We have describeda 6yearold girl with classical features of this syndrome, the symptoms having started in.
What are the clinical features of sjogrenlasson syndrome. 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. Since sjogrens affects each patient differently, a personalized plan should be developed by you and your physician, dentist, eye care provider and other specialists about how to treat your various symptoms. Diagnosis of sjogrenlarsson syndrome is confirmed by measurement of faldh or fatty alcohol.
The disorder is characterized by the presence of congenital ichthyosis, mental retardation, and spastic ditetraplegia. Sjogrenlarsson syndrome is a rare inherited disorder that affects the skin and nervous system. Sjogren 1956 and sjogren and larsson 1957 suggested that all of their. People with marinescosjogren syndrome have clouding of the lens of the eyes cataracts that usually develops soon after birth or in early childhood. Sjogrenlarsson syndrome nord national organization for. Sjogrenlarsson syndrome, magnetic resonance imaging, proton spectroscopy. Marinescosjogren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. Sjogrenlarsson syndrome definition of sjogrenlarsson. Nad oxidoreductase in cultured skin fibroblasts 7 andor sequence analysis of. At birth the skin is red erythema, but later in infancy the skin becomes dry, rough. After infancy, the skin loses its redness and dark scales often appear on the neck and. 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 first is ichthyosis, which is a buildup of skin to form a scalelike covering that causes dry skin and other problems. The skin changes in the sjogrenlarsson syndrome are similar to those in congenital ichthyosiform erythroderma, a genetic disease that results. The orthopaedic presentation and management of sjogrenlarsson syndrome. The purpose of this study is to define the clinical spectrum and natural history of sjogrenlarsson syndrome, and identify biomarkers that.
All structured data from the file and property namespaces is available under the creative commons cc0 license. May 28, 2019 sanders rj, ofman r, dekker c, kemp s, wanders rj. Presentation as a collodion baby has been described, but it is unusual scaling more usually develops after infancy. 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.
A study of topical ns2 cream to treat ichthyosis in. Simply having one of these genes does not cause a person to develop the disease. The sjogren the sjogren larsson syndrome is a neurocutaneous, autosomal recessive and disabling condition, characterized by. Affected individuals also have muscle weakness myopathy and difficulty coordinating. Sep 21, 2012 genetics home reference ghr contains information on sjogren larsson syndrome. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. All these clinical and radiological findings were diagnostic of sjogren larsson syndrome. Sjogrenlarsson syndrome sls is an inherited disorder caused by a defective enzyme called fatty aldehyde dehydrogenase. It seems more common in north sweden than elsewhere in europe and has been estimated as having the incidence of 10. Marinescosjogren syndrome genetics home reference nih. The sjogren the sjogren larsson syndrome is a neurocutaneous, autosomal recessive and.
Click on the link to view a sample search on this topic. A study of topical ns2 cream to treat ichthyosis in sjogren. Sjogrenlarsson syndrome genetics home reference nih. Sjogren larsson syndrome sls is a rare neuroectodermal genodermatosis inherited as an autosomal recessive disorder. Sjogren larsson syndrome follows the autosomal recessive mode of inheritance.
The disease is caused by mutations in the aldehyde dehydrogenase gene. The aldh3a2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase faldh. Several different genes appear to affect the risk of developing the condition, but specific genes have not been confirmed. Genetics home reference ghr contains information on sjogrenlarsson. Some sort of trigger is also needed, such as a viral or bacterial.
The ichthyosis usually evident at birth may be seen in some patients after the first year of life. Affected individuals also have muscle weakness myopathy and difficulty coordinating movements ataxia, which may impair their. Pubmed is a searchable database of medical literature and lists journal articles that discuss sjogrenlarsson syndrome. This page was last edited on 6 october 2019, at 08.
Sjogrenlarsson syndrome sls is a rare inherited neurocutaneous disorder resulting from mutations in the aldh3a2 gene encoding fatty. Dermnetnz is an online resource about skin diseases developed by the new zealand dermatological society incorporated. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Sjogren syndrome to distinguish it from the sicca syndrome, which was described by henrick sjogren, a swedish ophthalmologist. Sjogren syndrome likely results from a combination of genetic and environmental factors it appears to be multifactorial. Ichthyosis dry skin spastic diplegia or tetraplegia forms of cerebral palsy intellectual impairment. Sjogrenlarsson syndrome sls is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Sjogren larsson syndrome sls is an inherited disorder characterized by scaling skin ichthyosis, intellectual disability, speech abnormalities, and spasticity.
Sjogrenlarsson syndrome is a condition characterized by dry, scaly skin ichthyosis. Ventricles and gray matter of brain, corpus callosum, thalami, brainstem, and cerebellar hemispheres were normal. Sjogrenlarsson syndrome sls is an inherited disease characterized by an inability of the body to breakdown certain molecules called fatty aldehydes and fatty alcohols due to a deficiency in the activity of an enzyme called fatty aldehyde dehydrogenase faldh. Sjogrenlarsson syndrome sls is an inborn error of lipid fat metabolism, caused by mutations in the. This has rarely been described in people of indian origin, case reports mainly being restricted to caucasians. Sls is an inherited neurocutaneous disorder caused by mutations in the aldh3a2 gene that encodes fatty aldehyde dehydrogenase faldh. Sjogrenlarssonsyndrom fettaldehyddehydrogenasemangel. Enable javascript to view the expandcollapse boxes. Dermnetnz provides information on ichthyosis in general. Sjogrenlarsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. These symptoms are apparent by early childhood and usually do not worsen with age. 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. Dec 27, 2018 the sjogren larsson syndrome is sometimes called the t.
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 website is maintained by the national library of medicine. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di or tetraplegia. Symptoms associated with sjogrenlarsson syndrome are attributed to the accumulation of fatty aldehydes and fatty alcohols in. Sjogren syndrome genetic and rare diseases information. The most common symptoms of sls are ichthyosis, which is thickened fishlike skin, muscle tightness in the legs, and intellectual disability. Sjogren larsson syndrome sls is a rare autosomal recessive disease of the mutation aldh3a2 that identifies a part of fatty acids for fatty aldehyde dehydrogenase. 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. Sjogrenlarsson syndrome is a rare autosomal disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. Faldh acts on fatty aldehydes derived from metabolism of fatty alcohol, phytanic acid a branched. Definition of syndrome, sjogrenlarsson medicinenet.
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