Sjogren-Larsson Syndrome
Patient Information
Characteristics
Background and History
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.
Clinical Correlations
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.
Genetics
Inheritance
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.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
Diagnosis and Prognosis
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.
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