For some people the condition may just be a bit of a nuisance, while for others it can have a big impact on their everyday life. Sjogren larsson syndrome europe pmc article europe pmc. 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. Sjogrenlarsson syndrome an overview sciencedirect topics. Sjogren larsson syndromein twosibs with peripheral nerve involvement andbisalbuminaemia maria maia fromthe departmentofneurology, hospitalst. Along with symptoms of extensive dryness, other serious complications include profound fatigue, chronic pain, major organ involvement, neuropathies, and lymphomas.
Sjogren larsson syndrome sls is an autosomal recessive condition with a triad of ichthyosis, mental deficiency and spastic diplegia or tetraplegia. Antonio, porto, portugal synopsis twosibs are describedwith sjogren larsson syndrome. We report a case of sls in an 11monthold girl of lebanese and mexicansyrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Sjogrenlarsson syndrome sls is a rare neurocutaneous disorder caused by deficient activity of fatty aldehyde dehydrogenase faldh and is characterized by congenital ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. The sjogrenlarsson syndrome jama ophthalmology jama network. Sjogrenlarsson syndrome sls is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0. The condition often accompanies other immune system disorders, such as rheumatoid arthritis and lupus. The sjogren larsson syndrome sls is an autosomal recessive disorder. Originally described in 1967, sjogrenlarsson syndrome sls is an autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. Sjogren larsson syndrome sls is a rare autosomal recessive inborn error of lipid metabolism due to mutations in the aldh3a2 that. Marinescosjogren syndrome genetics home reference nih. Sjogren s showgrins syndrome is a disorder of your immune system identified by its two most common symptoms dry eyes and a dry mouth.
In sjogrens syndrome, the mucous membranes and moisturesecreting glands of your eyes and mouth are. The main symptoms of sjogrens syndrome are dry eyes and a dry mouth, but it can also cause several other problems. Sjogrens showgrins syndrome is a disorder of your immune system identified by its two most common symptoms dry eyes and a dry mouth. The disorder is characterized by the presence of congenital ichthyosis, mental retardation, and spastic ditetraplegia. Sjogrens showgrins is a systemic autoimmune disease that affects the entire body. Sjogrenlarsson syndrome sls is a rare inherited neurocutaneous disorder resulting from mutations in the aldh3a2 gene encoding fatty. Sls is caused by mutations in a gene called fatty aldehyde dehydrogenase, or fadh. Symptoms associated with sls are attributed to the. Defective metabolism of leukotriene b4 in the sjogrenlarsson syndrome. Our purpose was to characterize the nature of the cerebral involvement in sls. Presentation as a collodion baby has been described, but it is unusual. 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. After infancy, the skin loses its redness and dark scales often appear on the neck and. Sjogrenlarsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis.
The protein that is made by this gene is responsible for breaking down certain molecules called medium and longchain fatty aldehydes. There are many conditions that can cause similar symptoms. Definition of syndrome, sjogrenlarsson medicinenet. It has rarely been reported in asian and indian populations. Abnormal lipid accumulation in the membranes of the skin and brain results. Sjogrenlarsson syndrome sls is a rare inherited neurocutaneous disorder resulting from mutations in the aldh3a2 gene encoding fatty aldehyde dehydro genase faldh, an enzyme responsible for catalysing the oxidation of fatty aldehyde to. Sjogrenlarsson syndrome genetics home reference nih. Sjogren larsson syndrome sls is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0. The sjogren larsson 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. These symptoms are apparent by early childhood and usually do not worsen with age.
Mar 01, 2020 a collection of disease information resources and questions answered by our genetic and rare diseases information specialists for sjogren larsson like syndrome. 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. Individuals with sjogrenlarsson syndrome a have a deficiency in the enzyme fatty aldehyde dehydrogenase, which breaks down fatty aldehydes and fatty alcohols. Sjogrens syndrome is a relatively common condition that mainly affects the eyes and salivary glands, but can affect different parts of the body. It is characterized by the triad of congenital ichthyosis. Sjogren larsson syndrome sls is a rare autosomal recessive, neurocutaneous disorder. If fadh is not functioning properly, these and related molecules build up in the body, leading to. We report the clinical characteristics and the results of molecular studies in 19 sls patients. 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.
The faldh enzyme deficiency results in the accumulation of longchain aliphatic aldehydes and alcohols. Sjogren syndrome to distinguish it from the sicca syndrome see 200400, 270150, which was described by henrick sjogren, swedish ophthalmologist born in 1899. What are the clinical features of sjogrenlasson syndrome. A study of topical ns2 cream to treat ichthyosis in sjogren. In sjogren s syndrome, the mucous membranes and moisturesecreting glands of your eyes and mouth are. In addition, a characteristic retinopathy has been noted. Sjogrens syndrome american college of rheumatology. Another sib died in early life with signs which appear to be indicative ofthe samecondition. Sep 21, 2012 a collection of disease information resources and questions answered by our genetic and rare diseases information specialists for sjogren larsson syndrome. It is a rare genetic disorder with autosomal recessive inheritance, characterized by the three cardinal symptoms. Sjogrenlarsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Affected individuals also have muscle weakness myopathy and difficulty coordinating movements ataxia, which may impair their ability.
Sjogrens syndrome is a systemic condition, which means it can affect the entire body. Other characteristic features are delayed motor development due to spastic diplegia or tetraplegia, mental retardation, speech delay, short stature, and seizures. Sjogren syndrome sjs, ss is a longterm autoimmune disease that affects the bodys moistureproducing glands. Sjogren larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms. Striking ophthalmoscopic changes were documented in this case, and the first report of fluorescein angiograms of the macular changes in this. Sjogren larsson syndrome introduction sjogren larsson syndrome sls is a rare autosomal recessive, neurocutaneous disorder. The first is ichthyosis, which is a buildup of skin to form a scalelike covering that causes dry skin and other problems. Sls was first described by sjogren in 1958, sjogren and larsson. Understanding sjogrens sjogrens syndrome foundation.
Mar 30, 2015 this is a multicenter, randomized, doubleblind, vehiclecontrolled, parallelgroup study designed to evaluate the safety, pk, and exploratory activity of topicallyapplied ns2 dermatologic cream administered oncedaily qd to subjects with ichthyosis secondary to sjogren larsson syndrome sls. In order for a child to receive sls both parents must. Children with sjogrenlarsson syndrome have red, dry skin from birth. Usually hyperkeratosis excess keratinized skin cells that gives the rough and scaly appearance is present at birth and appears more pronounced in the next few months. Sjogrenlarsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms 485. Herein, we describe a case of a greek patient with ichthyosis and spasticity of the legs but with normal intelligence iq 95. Sls is a form of ichthyosis associated with other symptoms involving the brain and nervous system. At birth the skin is red erythema, but later in infancy the skin becomes dry, rough. Sjogrenlarsson syndrome sls is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetraplegia, and mental. A person must have two variants in the aldh3a2 gene in order to have this condition. The mr findings included confluent hyperintense white matter lesions in the. Carrier screening to help detect the risk of having a baby with a specific inherited disorder, such as cystic fibrosis. Sjogrenlarsson syndrome nord national organization for.
A missense mutation in the faldh gene identified in sjogren larsson syndrome patients originating from the northern part of sweden. Sjogrenlarsson syndrome is a condition characterized by dry, scaly skin ichthyosis. Symptoms associated with sjogrenlarsson syndrome are attributed to the accumulation of fatty. It can be identified by a triad of medical disorders. Sjogrenlarssonlike syndrome genetic and rare diseases. Sjogrens syndrome is an autoimmune condition, which means it occurs as a result of a malfunctioning immune system. 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.
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. Sjogrenlarsson syndrome sls is a recessively inher ited disease with congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation, caused by. Sjogrenlarsson syndrome sls is an inherited disorder characterized by scaling skin ichthyosis, intellectual disability, speech abnormalities, and spasticity. Sjogrenlarsson syndrome online mendelian inheritance in man omim270200 is an autosomal recessive neurocutaneous disorder caused by mutations in the aldh3a2 gene that encodes fatty aldehyde dehydrogenase falh. Sjogrenlarsson syndrome definition of sjogrenlarsson. The sjogrenlarsson syndrome jama ophthalmology jama. Sjogrenlarsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase.
Sjogren larsson syndrome sls is an autosomal recessive disorder characterizedbythe presence ofcongenitalichthyosis, mentalretardation, andspasticdiandtetraplegia1. Diagnosis and management of sjogren syndrome paul kruszka, lcdr, usphs, u. People with marinescosjogren syndrome have clouding of the lens of the eyes cataracts that usually develops soon after birth or in early childhood. We report the case of an indian patient with sls who presented with the classical clinical triad and demonstrated characteristic findings on magnetic. Sjogren larsson syndrome sls is a rare neuroectodermal genodermatosis inherited as an autosomal recessive disorder. Sjogrenlarsson syndrome sls foundation for ichthyosis. Sjogren larsson syndrome, spastic paraplegia, icthyosis, glistening white dots, leukoencephalopathy, faldh, aldh3a2, fatty aldehydes, leukotriene b4 this work is published and licensed by dove medical press limited.
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. Pdf sjogrenlarsson syndrome in clinical practice researchgate. Abnormal lipid accumulation in the membranes of the skin and brain results in cutaneous and neurologic manifestations. A rare neurocutaneous disorder caused by an inborn error of lipid metabolism. Mr imaging was performed in 18 patients aged 5 months to 45 years and repeated in 14. Abstract backgroundobjectives 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. Abstract backgroundobjectives sjogren larsson syndrome sls is a rare autosomal recessive disease of the mutation aldh3a2 that. Sjogren larsson syndrome online mendelian inheritance in man omim270200 is an autosomal recessive neurocutaneous disorder caused by mutations in the aldh3a2 gene that encodes fatty aldehyde dehydrogenase falh.
Marinescosjogren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. Enable javascript to view the expandcollapse boxes. Sjogrenlarsson syndrome sls is a rare autosomalrecessive neurocutaneous disorder comprising a triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. Sjogrenlarsson syndrome an autosomal recessive condition omim. Magnetic resonance of myelination and myelin disorders, 3rd, springer, new york 2005. The mr findings included confluent hyperintense white matter lesions in the periventricular and deep white matter of the centrum semiovale, with sparing of the subcortical u fibers. Jan 07, 2020 sjogren larsson syndrome online mendelian inheritance in man omim270200 is an autosomal recessive neurocutaneous disorder caused by mutations in the aldh3a2 gene that encodes fatty aldehyde dehydrogenase falh. It is characterized by scaly dry skin, intellectual disability, and persistent muscle stiffness. The second identifier is paraplegia which is characterized by leg spasms.