SJÖGREN-LARSSON SYNDROME

By Gary M. White, MD

Sjögren-Larsson syndrome combines ichthyosis, mental retardation and spastic diplegia or tetraplegia. The mental retardation is often severe and the neurologic abnormalities are often so severe that many patients are never able to walk. Glistening white dots may be seen on the retina. Short stature and speech defects may occur.

The cause appears to be defective fatty alcohol oxidation caused by a deficiency in fatty aldehyde dehydrogenase, a component of the fatty alcohol enzyme complex. This leads to accumulation of fatty aldehydes in skin, liver, central nervous system, and muscles.

Clinical

The ichthyosis has its onset at birth or soon after. It tends to cover most of the body. Plantar hyperkeratosis may be present.

Treatment

Referral to a specialist is in order. Early dietary intervention with the combined goals of 1) reduction of fat intake to 30% of total calories and 2) supplementation with both n-3 and n-6 fatty acids to obtain a linoleic/linolenic acid ratio of 6 has been reported effective in one case [Dermatology 1999;199;340].

The ichthyotic skin changes may be treated with emollients and keratolytics. If needed, acitretin may be given and maintained at 025 mg/kg.

References

Dermatology Online Journal 18(9)

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