Document Detail

Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.
MedLine Citation:
PMID:  20049467     Owner:  NLM     Status:  MEDLINE    
Sjögren-Larsson syndrome is a genetic disease characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene coding for fatty aldehyde dehydrogenase, an enzyme necessary for oxidation of fatty aldehydes and fatty alcohols. We investigated the cutaneous abnormalities in 9 patients with Sjögren-Larsson syndrome to better understand how the enzymatic deficiency results in epidermal dysfunction. Histochemical staining for aldehyde oxidizing activity was profoundly reduced in the epidermis. Colloidal lanthanum perfusion studies showed abnormal movement of tracer into the extracellular spaces of the stratum corneum consistent with a leaky water barrier. The barrier defect could be attributed to the presence of abnormal lamellar bodies, many with disrupted limiting membranes or lacking lamellar contents. Entombed lamellar bodies were present in the cytoplasm of corneocytes suggesting blockade of lamellar body secretion. At the stratum granulosum-stratum corneum interface, non-lamellar material displaced or replaced secreted lamellar membranes, and in the stratum corneum, the number of lamellar bilayers declined and lamellar membrane organization was disrupted by foci of lamellar/non-lamellar phase separation. These studies demonstrate the presence of a permeability barrier abnormality in Sjögren-Larsson syndrome, which localizes to the stratum corneum interstices and can be attributed to abnormalities in lamellar body formation and secretion.
William B Rizzo; Dana S'Aulis; M Anitia Jennings; Debra A Crumrine; Mary L Williams; Peter M Elias
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2010-01-05
Journal Detail:
Title:  Archives of dermatological research     Volume:  302     ISSN:  1432-069X     ISO Abbreviation:  Arch. Dermatol. Res.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-06-25     Completed Date:  2010-11-16     Revised Date:  2013-05-31    
Medline Journal Info:
Nlm Unique ID:  8000462     Medline TA:  Arch Dermatol Res     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  443-51     Citation Subset:  IM    
Department of Pediatrics, University of Nebraska Medical Center, 985456 Nebraska Medical Center, Omaha, NE 68198-5456, USA.
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MeSH Terms
Aldehyde Oxidoreductases / genetics,  metabolism*
Cell Membrane Permeability / genetics
Cell Surface Extensions / pathology*
Cells, Cultured
Child, Preschool
DNA Mutational Analysis
Epidermis / pathology
Fibroblasts / metabolism*,  pathology
Ichthyosis, Lamellar
Mutation / genetics
Secretory Pathway / genetics
Sjogren-Larsson Syndrome / enzymology*,  genetics,  pathology,  physiopathology*
Grant Support
Reg. No./Substance:
EC 1.2.-/Aldehyde Oxidoreductases; EC dehydrogenase

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