Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (5)

Sjögren-Larsson syndrome in Adult
Other Resources UpToDate PubMed

Sjögren-Larsson syndrome in Adult

Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Sjögren-Larsson syndrome (SLS) is a rare inborn error of metabolism characterized by congenital ichthyosis, intellectual disability, and spastic di- or tetraplegia. Ichthyosis, usually present at birth, may occur after the first year of life. It is an autosomal recessive condition due to defective fatty aldehyde dehydrogenase (FALDH) mapped to the SLS locus on chromosome 17.

Codes

ICD10CM:
Q87.19 – Other congenital malformation syndromes predominantly associated with short stature

SNOMEDCT:
111303009 – Sjögren-Larsson syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated:01/24/2022
Copyright © 2022 VisualDx®. All rights reserved.
Sjögren-Larsson syndrome in Adult
A medical illustration showing key findings of Sjögren-Larsson syndrome : Seizures, Paraplegia, Quadriplegia, Diplegia, Pruritus, Developmental delay, Ichthyosis
Clinical image of Sjögren-Larsson syndrome - imageId=1611776. Click to open in gallery.  caption: 'Xerotic, linear, and ichthyotic plaques on the arm.'
Xerotic, linear, and ichthyotic plaques on the arm.
Copyright © 2022 VisualDx®. All rights reserved.