What syndrome is this? Sjögren-Larsson syndrome
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Updated: Nov 7, 2026

Ultrasonographic Evaluation of Salivary Glands for Sjogren's Syndrome: Diagnostic and Monitoring Insights
Published on: October 13, 2023
S Carney1, S B Mallory, M A Kibarian
1Department of Medicine, Washington University School of Medicine, St. Louis, Missouri.
Abstract:
Sjögren-Larsson syndrome is an inborn error of metabolism with its primary clinical manifestations being congenital ichthyosis, spastic hemiplegia or quadriplegia, and moderate to severe mental retardation. Definitive diagnosis can be made by measuring fatty aldehyde dehydrogenase activity in cultured skin fibroblasts. Treatment of dermatologic manifestations is best accomplished with topical emollients and frequent bathing or showering. Some evidence supports medium-chain triglyceride diets and oral retinoids. These modalities, however, remain controversial.
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