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Related Experiment Video

Updated: May 26, 2026

Examination of Oral Candida Infection in Primary Sjögren's Syndrome Patients

Examination of Oral Candida Infection in Primary Sjögren's Syndrome Patients

Published on: March 1, 2024

[Sjögren-Larsson syndrome: 2 case reports].

C Galoin-Bertail¹, H Ogier de Baulny, R Wanders

¹Centre de référence des maladies héréditaires du métabolisme, hôpital Robert-Debré, AP-HP, Paris, France. clairebertail@hotmail.fr

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie

|December 24, 2011

Summary

Sjögren-Larsson syndrome (SLS), a rare genetic disorder, presents challenges in early diagnosis. Treatment with zileuton offers partial relief for symptoms like itching and ichthyosis in affected individuals.

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Last Updated: May 26, 2026

Examination of Oral Candida Infection in Primary Sjögren's Syndrome Patients

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Ultrasonographic Evaluation of Salivary Glands for Sjogren's Syndrome: Diagnostic and Monitoring Insights

Ultrasonographic Evaluation of Salivary Glands for Sjogren's Syndrome: Diagnostic and Monitoring Insights

Published on: October 13, 2023

Area of Science:

Genetics and rare diseases
Biochemistry and metabolic disorders
Neurology and neurocutaneous conditions

Background:

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder.
It stems from a deficiency in fatty aldehyde dehydrogenase (FADH).
Key features include ichthyosis, intellectual disability, and spasticity.

Observation:

Two cases of SLS with delayed diagnosis are presented.
Symptoms included congenital ichthyosis, psychomotor retardation, and spastic tetraplegia.
One patient also presented with Guillain-Barré syndrome.

Findings:

Diagnosis was confirmed via fibroblast culture, lipid spectroscopy, and enzymology.
Zileuton, a leukotriene synthesis inhibitor, showed moderate efficacy for pruritus and ichthyosis.
Delayed diagnosis was noted due to non-neonatal symptom onset.

Implications:

Early diagnosis of SLS can be challenging.
Zileuton demonstrates partial therapeutic benefit, particularly for pruritus.
The co-occurrence of SLS and Guillain-Barré syndrome is a rare association warranting further investigation.