Sjogren-Larsson syndrome is found primarily in Europe and particularly in Scandinavian countries. It is named after the Swedish physician, Karl Gustaf Torsten Sjogren, and a Swedish actuary, Tage Konrad Leopold Larsson, who first reported it in the 1950s.
This disorder involves primarily the skin, eyes and the nervous system. Infants are born with a reddened and thickened skin and early in life develop a scaly appearance to the skin. These changes involve primarily the skin around joints and over the abdomen but sometimes involve the eyelids as well. Many patients complain of itching. The retina in the eye has changes as well which often produce some loss of vision but this is usually mild. The cornea (windshield) of the eye is usually involved as well causing discomfort and light sensitivity. Often the cornea has small opacities, especially in the lower portion. The genetic defect leads to brain damage as well with some degree of mental retardation. The limbs are often stiff and reflexes become overly reactive which leads to difficulty in walking and patients may be wheelchair-bound.
This is an autosomal recessive disorder in which two mutations, one from each normal parent, must be present. The family tree usually shows a horizontal pattern of affected individuals.
The diagnosis may be made by a pediatrician or dermatologist. An ophthalmologist should be consulted for a complete eye examination to confirm the diagnosis. Most patients live to adulthood. Moisturizing skin treatments can be helpful.