Genetics home reference ghr contains information on sjogren. Sjogren larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. This website is maintained by the national library of medicine. Dec 27, 2018 the sjogren larsson syndrome is sometimes called the t. What are the clinical features of sjogrenlasson syndrome. Sjogren 1956 and sjogren and larsson 1957 suggested. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in sjogren larsson syndrome. 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. Several different genes appear to affect the risk of developing the condition, but specific genes have not been confirmed. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Clinical, biochemical and molecular genetic characteristics of 19 patients with the sjogren larsson syndrome. Sjogren syndrome to distinguish it from the sicca syndrome, which was described by henrick sjogren, a swedish ophthalmologist.
Dermatologic manifestations of sjogrenlarsson syndrome. At birth the skin is red erythema, but later in infancy the skin becomes dry, rough. The disorder is characterized by the presence of congenital ichthyosis, mental retardation, and spastic. 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. Sjogrenlarsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Affected infants develop various degrees of reddened skin with fine scales soon after birth.
Mr imaging and proton mr spectroscopic studies in sjogrenlarsson syndrome. It is caused by mutation of gene encoding microsomal fatty aldehyde dehydrogenase leading to defect in fatty alcohol metabolism. Simply having one of these genes does not cause a person to develop the disease. After infancy, the skin loses its redness and dark scales often appear on the neck and.
Presentation as a collodion baby has been described, but it is unusual scaling more usually develops after infancy the neck, lower abdomen and large folds are most involved. Sep 21, 2012 genetics home reference ghr contains information on sjogren larsson syndrome. Some sort of trigger is also needed, such as a viral. The first is ichthyosis, which is a buildup of skin to form a scalelike covering that causes dry skin and other problems.
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 diagnosis of sjogrenlarsson syndrome is usually made clinically. Sjogrenlarsson syndrome is a condition characterized by dry, scaly skin ichthyosis. Definition of syndrome, sjogrenlarsson medicinenet.
Dermnetnz is an online resource about skin diseases developed by the new zealand dermatological society incorporated. Listing a study does not mean it has been evaluated by the u. These symptoms are apparent by early childhood and usually do not worsen with age. Sjogren larsson syndrome is a rare autosomal recessively inherited neurocutaneous disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and. Sjogrenlarsson syndrome is a condition characterized by dry, scaly skin. The skin changes in the sjogrenlarsson syndrome are similar to those in congenital ichthyosiform erythroderma, a.
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. 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. Dermnetnz provides information on ichthyosis in general. Sjogrenlarsson syndrome genetics home reference nih. In addition, sjogren syndrome may cause skin, nose, and vaginal dryness. Sjogren larsson syndrome is a condition characterized by dry, scaly skin ichthyosis. Willemsen ma, cruysberg jr, rotteveel jj, aandekerk al, van domburg ph, deutman af. Sjogren larsson syndrome sls is a rare neuroectodermal genodermatosis inherited as an autosomal recessive disorder. Optical coherence tomography oct revealed focal hyperreflective spots and intrafoveal microcystoid spaces. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in sjogrenlarsson syndrome. These symptoms are apparent by early childhood and usually do not worsen with. Sjogrenlarsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms. The second identifier is paraplegia which is characterized by leg spasms. It seems more common in north sweden than elsewhere in europe and has been estimated as having the incidence of 10.
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