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. Diagnosis of sjogrenlarsson syndrome is confirmed by measurement of faldh or fatty alcohol. Sjogrenlarsson syndrome sls is a rare autosomal recessive, neurocutaneous disorder. Genetics home reference ghr contains information on sjogrenlarsson. Sls is an inherited neurocutaneous disorder caused by mutations in the aldh3a2 gene that encodes fatty aldehyde dehydrogenase faldh. Sls is a form of ichthyosis associated with other symptoms involving the brain and nervous system. Sjogren syndrome likely results from a combination of genetic and environmental factors it appears to be multifactorial.
Rizzo wb, craft da, somer t, carney g, trafrova j, simon m. The skin changes in sjogren larsson syndrome are similar to those of congenital ichthyosiform erythroderma, although considerable variations in severity have been described goldsmith et al. Those affected are also at an increased risk 5% of lymphoma. The second identifier is paraplegia which is characterized by leg spasms. Sjogren larsson syndrome sls is an inherited disorder characterized by scaling skin ichthyosis, intellectual disability, speech abnormalities, and spasticity. Sjogren 1956 and sjogren and larsson 1957 suggested that all of their.
Sjogrenlarsson syndrome baylor college of medicine. 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 is a rare autosomal recessively inherited neurocutaneous disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental. Although you can develop sjogrens syndrome at any age, most people are older than 40 at the time of diagnosis.
Sjogrenlarsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. The purpose of this study is to define the clinical spectrum and natural history of sjogrenlarsson syndrome, and identify biomarkers that. Sjogrenlarsson syndrome sls is an inborn error of lipid fat metabolism, caused by mutations in the. Herein, we describe a case of a greek patient with ichthyosis and spasticity of the legs but with normal intelligence iq 95. In sjogrens syndrome, the mucous membranes and moisturesecreting glands of your eyes and mouth are usually affected first resulting in decreased tears and saliva. The disorder is characterized by the presence of congenital ichthyosis, mental retardation, and spastic ditetraplegia. Sjogrenlarsson syndrome, magnetic resonance imaging, proton spectroscopy. It seems more common in north sweden than elsewhere in europe and has been estimated as having the incidence of 10. Only two autopsy reports of patients with sjogrenlarsson syndrome, that of. Dermatologic manifestations of sjogrenlarsson syndrome. Patients are usually born with evidence of ichthyosis, but they soon show developmental delay in the first year or two of life, especially in their motor abilities. A study of topical ns2 cream to treat ichthyosis in.
Sjogrenlarsson syndrome nord national organization for. The complex plasmalogen biosynthetic pathway involves multiple enzymatic steps carriedout in peroxisomes and in the endoplasmic reticulum. Plasma cells producing these autoantibodies are mainly high affinity plasma cells originating from germinal centre reactions. Other syndromes combine ichthyosis and neurological disorder, e. Simply having one of these genes does not cause a person to develop the disease. Several different genes appear to affect the risk of developing the condition, but specific genes have not been confirmed. A gatekeeper helix determines the substrate specificity of sjogren larsson syndrome enzyme fatty aldehyde dehydrogenase markus a. Sjogrenlarsson syndrome fatty aldehyde dehydrogenase deficiency disease sjogren larsson syndrome. Pigg m, jagell s, sillen a, weissenbach j, gustavson kh, wadelius c.
Affected infants develop various degrees of reddened skin with fine scales soon after birth. Sjogren larsson syndrome sls is a rare neuroectodermal genodermatosis inherited as an autosomal recessive disorder. Enable javascript to view the expandcollapse boxes. What are the clinical features of sjogrenlasson syndrome.
Nad oxidoreductase in cultured skin fibroblasts 7 andor sequence analysis of. Salivary glands of primary sjogrens syndrome patients. 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 ichthyosis usually evident at birth may be seen in some patients after the first year of life. At birth the skin is red erythema, but later in infancy the skin becomes dry, rough.
Sjogren larsson syndrome is a condition characterized by dry, scaly skin ichthyosis. 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. Definition of syndrome, sjogrenlarsson medicinenet. Presentation as a collodion baby has been described, but it is unusual scaling more usually develops after infancy. Hmrs findings of three patients with sjogrenlarsson. When exposed to the right microenvironment these autoimmune plasma cells become longlived and resistant to. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. The skin changes in the sjogrenlarsson syndrome are similar to those in congenital ichthyosiform erythroderma, a genetic disease that results. The first is ichthyosis, which is a buildup of skin to form a scalelike covering that causes dry skin and other problems. Salomonsson s, larsson p, tengner p, mellquist e, hjelmstrom p, wahrenherlenius m.
These symptoms are apparent by early childhood and usually do not worsen with age. Sjogren syndrome genetic and rare diseases information. Listing a study does not mean it has been evaluated by the u. The presence of circulating rossa and lassb autoantibodies has become an important marker in the classification criteria for primary sjogrens syndrome pss. This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if. After infancy, the skin loses its redness and dark scales often appear on the neck and. 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. Some sort of trigger is also needed, such as a viral or bacterial. Sjogrenlarsson syndrome genetics home reference nih.
A gatekeeper helix determines the substrate specificity of. Sjogrenlarsson syndrome definition of sjogrenlarsson. Sjogrenlarsson syndrome sls is an inherited disorder caused by a defective enzyme called fatty aldehyde dehydrogenase. The most common symptoms of sls are ichthyosis, which is thickened fishlike skin, muscle tightness in the legs, and intellectual disability. Expression of the b cellattracting chemokine cxcl in the target organ and autoantibody production in ectopic lymphoid tissue in the chronic inflammatory disease sjogrens syndrome. Plasmalogens are a special class of etherphospholipids, best recognized by their vinylether bond at the sn1 position of the glycerobackbone and by the observation that their deficiency causes rhizomelic chondrodysplasia punctata rcdp.
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