It seems more common in north sweden than elsewhere in europe and has been estimated as having the incidence of 10. Sjogrenlarsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Defective inactivation of leukotriene b4 in patients with sjogrenlarsson syndrome. An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis mental retardation. Mr imaging and proton mr spectroscopic studies in sjogrenlarsson syndrome. 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. Listing a study does not mean it has been evaluated by the u. The diagnosis of sjogrenlarsson syndrome is usually made clinically. These symptoms are apparent by early childhood and usually do not worsen with age.
Some sort of trigger is also needed, such as a viral. The second identifier is paraplegia which is characterized by leg spasms. Sjogren larsson syndrome is a rare autosomal recessively inherited neurocutaneous disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and. Dermnetnz provides information on ichthyosis in general. Dec 27, 2018 the sjogren larsson syndrome is sometimes called the t. It is caused by mutation of gene encoding microsomal fatty aldehyde dehydrogenase leading to defect in fatty alcohol metabolism. Sjogren syndrome to distinguish it from the sicca syndrome, which was described by henrick sjogren, a swedish ophthalmologist. Willemsen ma, cruysberg jr, rotteveel jj, aandekerk al, van domburg ph, deutman af. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in sjogren larsson syndrome. Sjogrenlarsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms.
Sjogren syndrome genetic and rare diseases information. Sjogren larsson syndrome sls is a rare neuroectodermal genodermatosis inherited as an autosomal recessive disorder. After infancy, the skin loses its redness and dark scales often appear on the neck and. It may be confirmed in some centres by measurement of fatty aldehyde dehydrogenase in white blood cells or cultured fibroblasts collected by skin biopsy. 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. At birth the skin is red erythema, but later in infancy the skin becomes dry, rough. Sjogren larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Optical coherence tomography oct revealed focal hyperreflective spots and intrafoveal microcystoid spaces. This website is maintained by the national library of medicine. Dermnetnz is an online resource about skin diseases developed by the new zealand dermatological society incorporated.
The disorder is characterized by the presence of congenital ichthyosis, mental retardation, and spastic. 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. 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. The first is ichthyosis, which is a buildup of skin to form a scalelike covering that causes dry skin and other problems. A study of topical ns2 cream to treat ichthyosis in. 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. Sjogrenlarsson syndrome is a condition characterized by dry, scaly skin ichthyosis. Simply having one of these genes does not cause a person to develop the disease.
Only two autopsy reports of patients with sjogrenlarsson syndrome, that of. Sep 21, 2012 genetics home reference ghr contains information on sjogren larsson syndrome. These symptoms are apparent by early childhood and usually do not worsen with. Sjogrenlarsson syndrome nord national organization for. Definition of syndrome, sjogrenlarsson medicinenet. Several different genes appear to affect the risk of developing the condition, but specific genes have not been confirmed.
Sjogren syndrome likely results from a combination of genetic and environmental factors it appears to be multifactorial. In addition, sjogren syndrome may cause skin, nose, and vaginal dryness. Sjogrenlarsson syndrome sls is an inherited disorder characterized by scaling skin ichthyosis, intellectual disability, speech abnormalities, and spasticity. Genetics home reference ghr contains information on sjogren. Sjogrenlarsson syndrome is a condition characterized by dry, scaly skin.