Sjogrenlarsson syndrome definition of sjogrenlarsson. Pubmed is a searchable database of medical literature and lists journal articles that discuss sjogren larsson syndrome. Sjogrenlarsson syndrome sls is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetraplegia, and mental. Sjogrenlarsson syndrome sls is a recessively inher ited disease with congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation, caused by. Novel and recurrent aldh3a2 mutations in italian patients. 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. It has a characteristic set of clinical features, ichthyosis, spastic diplegia, and severe learning difficulties. Comprehensive in silico screening and molecular dynamics. Deficiency in this enzyme causes the sjogren larsson syndrome, a rare inherited disorder characterized by.
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 larsson syndrome sls is a rare inherited neurocutaneous disorder resulting from mutations in the aldh3a2 gene encoding fatty aldehyde dehydro. Mri showed periventricular lesions, high intensity on t2weighted and low intensity on t1weighted images at trigones of the lateral ventricles. Sls is a form of ichthyosis associated with other symptoms involving the brain and nervous system. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Your immune system is designed to identify foreign bodies such as bacteria and viruses and attack them to keep you healthy. 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. Cerebral mri and spectroscopy in 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. Sjogren larsson syndrome sls is a rare autosomal recessive inborn error of lipid metabolism due to mutations in the aldh3a2 that result in.
Pubmed is a searchable database of medical literature and lists journal articles that discuss sjogrenlarssonlike syndrome. We report mri and mrs of the brain in a patient with sjogrenlarsson syndrome sls in whom fatty alcohol. The patients have deficient activity of the aldehyde portion fatty. Presentation as a collodion baby has been described, but it is unusual scaling more usually develops after infancy. Sjogrenlarsson syndrome an overview sciencedirect topics. Sjogrenlarssonlike syndrome genetic and rare diseases. However, in the case of sjogrens syndrome your immune system attacks the glands that make tears and. This 14monthold boy of arabic descent presented with severe motor and speech delay.
What are the clinical features of sjogrenlasson syndrome. Pdf karl gustaf torsten sjogren and sjogrenlarsson syndrome. Pdf sjogrenlarsson syndrome sls is a rare autosomal recessive disorder characterized by triad of congenital. Click on the link to view a sample search on this topic. Sjogren 1956 and sjogren and larsson 1957 suggested that all of their. We recently saw two cases with characteristic features of this rare syndrome. Listing a study does not mean it has been evaluated by the u. At birth the skin is red erythema, but later in infancy the skin becomes dry, rough. Sjogrenlarsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. Sjogrenlarsson syndrome sls is a metabolic disorder with neurocutaneous features inherited as an autosomal. Sjogrenlarsson syndrome is a hereditary neurocutaneous syndrome that is nonprogressive in nature.
It has rarely been reported in asian and indian populations. He was unable to roll over, sit unsupported, or use any specific words or gestures. Dermatologic manifestations of sjogrenlarsson syndrome. 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. The skin changes in the sjogrenlarsson syndrome are similar to those in congenital ichthyosiform erythroderma, a genetic disease that results. Family history revealed consanguinity in the parents.
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. The faldh enzyme deficiency results in the accumulation of longchain aliphatic aldehydes and. Neurodegeneration in an adolescent with sjogrenlarsson. We report here a case which appears to be a variant of the condition described by sjogren and larsson 1957, in which the cardinal features described were. 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.
If you have problems viewing pdf files, download the latest version of adobe reader. After infancy, the skin loses its redness and dark scales often appear on the neck and. Sjogren larsson 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. Files are available under licenses specified on their description page.
Chapter eight comprehensive in silico screening and molecular dynamics studies of missense mutations in sjogren. Sjogren larsson syndrome is a condition characterized by dry, scaly skin ichthyosis. A patient friendly description of sjogrenlarsson syndrome sls. Sjogrenlarsson syndrome sls network posts facebook. Striking ophthalmoscopic changes were documented in this case, and the first report of fluorescein angiograms of the macular changes in this syndrome was made. Sjogrenlarsson syndrome genetics home reference nih. Pubmed is a searchable database of medical literature and lists journal articles that discuss sjogrenlarsson syndrome. Sjogren larsson syndrome sls is an inherited disorder characterized by scaling skin ichthyosis, intellectual disability, speech abnormalities, and spasticity. A study of topical ns2 cream to treat ichthyosis in.
Restoration of fatty aldehyde dehydrogenase deficiency in sjogren. Sjogren larsson syndrome is characterized by the triad of ichthyosis, mental retardation and spastic diplegia. Sjogren larsson syndrome sls is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0. A rare form of ichthyosis accompanied by spastic paraplegia and delayed mental development. It is characterized by the triad of congenital ichthyosis. Definition of syndrome, sjogrenlarsson medicinenet. Sjogrenlarsson syndrome nord national organization for.
For language access assistance, contact the ncats public information officer. We report a case of sls in an 11monthold girl of lebanese and mexicansyrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Nad oxidoreductase in cultured skin fibroblasts 7 andor sequence analysis of. These symptoms are apparent by early childhood and usually do not worsen with age. This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if. His examination was significant for spastic diplegia and scaly skin lesions fig a. 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. This page was last edited on 6 october 2019, at 08. The ichthyosis usually evident at birth may be seen in some patients after the first year of life. Download article pdf view full text html machine readable. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Sjogrenlarsson syndrome is a rare autosomal recessive form of ichthyosis with neurological. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic.
Download fulltext pdf download fulltext pdf karl gustaf torsten sjogren and sjogren larsson syndrome article pdf available in dermatology reports 32. 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. Advances in protein chemistry and structural biology. Mclennan departments of neurosurgery, pathology neuropathology and ophthalmology, the childrens hospital medical center, and the departments of neurologyneuropathology and ophthalmology, harvard medical school.
Fatty acid alcohol oxidoreductase deficiency disease summary. 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. We report the case of an indian patient with sls who presented with the classical clinical triad and demonstrated characteristic findings on magnetic. Sjogrenlarsson syndrome sls is an autosomal recessive neurocutaneous disorder caused by mutation in the aldh3a2 gene that codes. The sjogrenlarsson syndrome jama ophthalmology jama. Sjogrens syndrome is an autoimmune condition, which means it occurs as a result of a malfunctioning immune system. Sjogrens syndrome american college of rheumatology. Sjogrenlarsson syndrome sls foundation for ichthyosis. All structured data from the file and property namespaces is available under the creative commons cc0 license. The normal formation of multilamellar membranes in the stratum corneum and myelin is impaired. Affected infants develop various degrees of reddened skin with fine scales soon after birth. Sjogren larsson syndrome sls is a rare autosomal recessive inborn error. Sjogrenlarsson syndrome sls is an autosomal recessive neurocutaneous disorder most commonly seen in the scandinavian.
The second identifier is paraplegia which is characterized by leg spasms. Sjogrenlarsson syndrome sls is inherited as an autosomal recessive trait. The purpose of this study is to define the clinical spectrum and natural history of sjogrenlarsson syndrome, and identify biomarkers that. Pdf sjogrenlarsson syndrome in clinical practice researchgate.
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